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Rozprawy doktorskie na temat „Inborn errors of”

Autor: Grafiati

Data publikacji: 4 czerwca 2021

Data aktualizacji: 29 lipca 2024

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1

Ristoff, Ellinor. "Inborn errors in the metabolism of glutathione /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-392-9/.

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2

Pastore, Nunzia. "Gene therapy for inborn errors of metabolism." Thesis, Open University, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.590807.

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Inborn errors of liver metabolism are frequent causes of morbidity and mortality especially in children. For several of these diseases, treatment approaches depend on ,manipulation of the affected metabolic pathway by diet, drugs, vitamin cofactors, enzyme induction, end-product replacement, and alternative pathway activation. Unfortunately, these approaches often remain unsatisfactory especially in the face of illness or catabolism. Ideally, transfer of the normal genes in the liver cells that are defective might restore the metabolic function. The goal of my PhD thesis was to develop gene-ba

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3

Kocic, Vesna Garovic. "Methionine auxotrophy in inborn errors of cobalamin metabolism." Thesis, McGill University, 1992. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=56756.

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Several of the inborn errors of vitamin B$ sb{12}$ (cobalamin, Cbl) metabolism (cblC, cblD, cblE, cblF, cblG) are associated with homocystinuria and hypomethioninemia due to a functional deficiency of the cytoplasmic enzyme methionine synthase which requires methylcobalamin (MeCbl) as a cofactor. We compared the growth of cultured fibroblasts from controls with those from patients with a selective deficiency of MeCbl (cblE and cblG) and with those from patients with a defect in both MeCbl and adenosylcobalamin (AdoCbl) (cblC, cblD and cblF). Cells were grown in methionine and folic acid free m

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4

Byck, Susan. "Cross-correctional studies in inborn errors of vitamin B12 metabolism." Thesis, McGill University, 1989. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=59259.

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Human skin fibroblasts derived from patients with all 7 known inborn errors of vitamin B$ sb{12}$ metabolism have been studied for functional integrity of methylmalonyl CoA mutase and methionine synthase. Cocultivation of cblC and cblF fibroblasts in the absence of polyethylene glycol resulted in a twofold increase over the expected in both ($ sp{14}$C) propionate and ($ sp{14}$C) methyltetrahydrofolate incorporation into acid-precipitable material, suggesting that metabolic cooperation between cells occurs. CblD fibroblasts, which are biochemically similar to cblC cells (Goodman et al, 1970;

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5

Black, Duncan Arthur. "Aspects of purine and pyrimidine metabolism." Doctoral thesis, University of Cape Town, 1989. http://hdl.handle.net/11427/26590.

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In Chapter 1 a review of the literature concerning aspects of erythrocyte membrane transport and metabolism, and purine and pyrimidine metabolism is presented. The effects of pH, pO₂ and inorganic phosphate (Pi) on the uptake and metabolism of hypoxanthine by erythrocytes has been studied in Chapter 2. Uptake of hypoxanthine and accumulation of inosine 5'-monophosphate (IMP) were markedly increased at acid pH, high external phosphate concentrations, and low pO₂. Release of accumulated IMP as hypoxanthine occurred at alkaline pH values and low external phosphate concentrations. Conditions favou

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6

Moras, Emily. "Mitochondrial cobalamin binding proteins in patients with inborn errors of cobalamin metabolism." Thesis, McGill University, 2006. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=97972.

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Vitamin B12 (cobalamin, Cbl) is required as a cofactor for two human enzymes: methylmalonyl-CoA mutase (MCM) and methionine synthase (MS). Fibroblasts from patients with inborn errors of cobalamin metabolism have been classified into nine distinct complementation classes ( cblA-cblH and mut). Previous studies have shown that cobalamin binds MCM in mitochondria and MS in the cytosol. Cobalamin binding patterns were analyzed in crude mitochondrial fractions obtained from normal and mutant fibroblasts. Crude mitochondrial fractions from wildtype fibroblasts confirmed that the majority of [57Co]Cb

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7

MIGNANI, LUCA. "Study of inborn errors of Coenzyme A biosynthesis using Danio rerio animal models." Doctoral thesis, Università degli studi di Brescia, 2022. http://hdl.handle.net/11379/558461.

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Animal models are widely used to investigate the pathogenesis and molecular processes involved in the development and progression of human diseases. The Danio rerio, assumed a predominant role in the last decade due to some characteristics such as ease of use, the high number of embryos obtainable, the possibility to follow embryonic development and a completely sequenced genome. Neurodegeneration with Brain Iron Accumulation (NBIA) is a family of diseases characterized by a peculiar accumulation of iron in the brain. All known forms of NBIA are induced by mutations in single genes that code f

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8

MIGNANI, LUCA. "Study of inborn errors of Coenzyme A biosynthesis using Danio rerio animal models." Doctoral thesis, Università degli studi di Brescia, 2022. http://hdl.handle.net/11379/558476.

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Animal models are widely used to investigate the pathogenesis and molecular processes involved in the development and progression of human diseases. The Danio rerio, assumed a predominant role in the last decade due to some characteristics such as ease of use, the high number of embryos obtainable, the possibility to follow embryonic development and a completely sequenced genome. Neurodegeneration with Brain Iron Accumulation (NBIA) is a family of diseases characterized by a peculiar accumulation of iron in the brain. All known forms of NBIA are induced by mutations in single genes that code f

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9

MIGNANI, LUCA. "Study of inborn errors of Coenzyme A biosynthesis using Danio rerio animal models." Doctoral thesis, Università degli studi di Brescia, 2022. http://hdl.handle.net/11379/558458.

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Animal models are widely used to investigate the pathogenesis and molecular processes involved in the development and progression of human diseases. The Danio rerio, assumed a predominant role in the last decade due to some characteristics such as ease of use, the high number of embryos obtainable, the possibility to follow embryonic development and a completely sequenced genome. Neurodegeneration with Brain Iron Accumulation (NBIA) is a family of diseases characterized by a peculiar accumulation of iron in the brain. All known forms of NBIA are induced by mutations in single genes that code f

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10

Yamani, Lama. "Studies on transcobalamin in cultured fibroblasts from patients with inborn errors of cobalamin metabolism." Thesis, McGill University, 2008. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=112320.

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Cobalamin must be metabolized intracellularly in order to bind two enzymes: methionine synthase in cytoplasm and methylmalonyl-CoA mutase in mitochondria. Defects in this process cause different inborn errors of cobalamin metabolism (cblA-cblG and mut). A previous study described a cobalamin-binding protein, in addition to methylmalonyl-CoA mutase, in crude mitochondrial fractions. The amount of [57Co]cobalamin bound to this protein was increased in cblB, mut and cblD variant2 cell lines, compared to control cell lines. In the present study, this protein was identified as transcobalamin (TC).

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11

Lerner-Ellis, Jordan. "The molecular characterization of inborn errors of vitamin B₁₂ metabolism : cblA, cblB and cblC." Thesis, McGill University, 2006. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111863.

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This work investigates the molecular basis of three genetic diseases of vitamin B12 metabolism: cblA, cblB and cblC. Two genes responsible for isolated forms of methylmalonic aciduria types cblA and cblB, called MMAA and MMAB respectively, were recently identified. We sequenced the coding sequence and flanking regions of the MMAA and MMAB genes from the gDNA of 37 cblA and 35 cblB patient cell lines and identified 31 novel mutations in total. The biochemical properties of these cell lines were examined in cell culture. Haplotype analysis was used to investigate the history of mutations. The oc

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Dolenga, Michael Peter. "Metabolic studies of prolidase deficiency in cultured human fibroblasts." Thesis, McGill University, 1991. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=61190.

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Prolidase deficiency (McKusick 26413) is a rare autosomal recessive disorder characterized by iminodipeptiduria, skin lesions and mental retardation. The enzyme prolidase hydrolyzes dipeptides containing C-terminal proline or hydroxyproline.<br>The results presented here indicate that prolidase plays a major role in the recycling of dipeptide bound proline. Control fibroblasts were able to use iminodipeptides in lieu of proline to sustain normal growth and protein synthesis whereas prolidase deficient cells were not.<br>Iminodipeptides added to the media of control and mutant cells showed no a

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13

Mandla, Suzan (Suzan G. ). "Studies on mammalian 25-hydroxyvitamin D3-24-hydroxylase." Thesis, McGill University, 1992. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=39363.

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This thesis describes three studies on mammalian 25-hydroxyvitamin D$ sb3$-24-hyroxylase (24-hydroxylase), the first enzyme in the C24-oxidation pathway, a major catabolic pathway for vitamin D metabolites in kidney and other target tissues for vitamin D hormone. The first study examines the involvement of protein kinase C in the regulation of 24-hydroxylase activity in mouse kidney. Evidence is presented supporting a stimulatory role for protein kinase C in the regulation of constitutive, but not inducible, renal 24-hydroxylase. The kinase is also implicated in the aberrant expression of rena

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14

Buist, Neil R. M. "Fifty years in inborn errors of metabolism : from urine ferric chloride to mass spectrometry and gene analysis." Thesis, University of St Andrews, 2014. http://hdl.handle.net/10023/12724.

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Prefatory material introducing a collection of articles spanning fifty years of research into inborn errors of metabolism. Table of Contents: 1. Introduction -- 2. Background information about inborn errors of metabolism -- 3. Lessons from phenylketonuria [PKU] -- 4. My role in developing new medical foods -- 5. My role in solving an epidemic of benzyl alcohol poisoning in premature infants -- 6. My role in galactosaemia research -- 7. My start in the metabolic world - screening tests in urine -- 8. My experiences in disaster relief -- 9. My first appearance in the medical literature -- 10. A

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15

Mak, Miu, and 麥苗. "Chemical pathology analysis of inborn errors of metabolism for expanded newborn screening in Hong Kong." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B48540924.

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Inborn errors of metabolism (IEM) are under international spotlight because of the recent tremendous development in expanded newborn screening (NBS) and molecular genetics. IEM is a difficult subject involving more than 1,000 different disorders with protean clinical presentations and complicated diagnostic pathways. Cumulative incidence of IEM was reported up to 1 in 800. Patients can be affected in any ages. High clinical suspicion alone is not sufficient to reduce morbidities and mortalities. Notably, some IEM are amenable to treatment with promising outcome. Local data regarding the dise

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16

Farah, Rita S. "Intragenic complementation in methylmalonyl CoA mutase." Thesis, McGill University, 1994. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=55444.

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Methylmalonic aciduria (MMA) is an autosomal recessive metabolic disorder with an incidence of 1 in 48,000, which may be due to a defect in the mitochondrial homodimeric enzyme methylmalonyl CoA mutase (mut MMA). mut MMA is subdivided into $mut sp circ$ and $mut sp-$ subclasses on the basis of complementation analysis; $mut sp circ$ cell lines have very low incorporation of ($ sp{14}$C) from propionate into acid precipitable material while incorporation in $mut sp-$ cells is increased when cells are incubated in cobalamin. Intragenic complementation was first observed with WG 1130, a $mut sp c

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17

Qureshi, Amber A. (Amber Ateef). "The molecular characterization of mutations at the methylmalonyl CoA mutase locus involved in interallelic complementation /." Thesis, McGill University, 1993. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=69686.

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Methylmalonic aciduria is an autosomal recessive metabolic disorder, which may be due to a defect in the methylmalonyl CoA mutase (MCM) apoenzyme. The mut$ sp circ$ mutation is characterized by undetectable enzyme activity in cell extracts, and by the low incorporation of ($ sp{14}$C) propionate in the presence of hydroxocobalamin in culture. A mut$ sp circ$ fibroblast cell line, WG 1681, from an African-American male infant was shown to complement another mut$ sp circ$ cell line, WG 1130. Subsequent cloning and sequencing of cDNA from WG 1681 identified two previously described homozygous pol

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18

Boright, Andrew Pepler. "Prolidase deficiency : studies in human dermal fibroblasts." Thesis, McGill University, 1988. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=75956.

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Prolidase deficiency (MIM 26413), an autosomal recessive phenotype, is caused by rare alleles at a locus on chromosome 19cent.-q13.2. The clinical phenotype is pleiotropic (affecting skin, brain, etc.) and of variable expressivity (benign to early death). I established skin fibroblast cultures from 6 homozygous probands and 6 obligate heterozygotes, purified prolidase (E.C. 3.4.13.9, a homodimer) from normal human fibroblasts, raised a monospecific rabbit antiserum to the subunit, and studied its biosynthesis. Pulse-chase immunoprecipitation experiments showed that the subunit is synthesized i

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19

Vieira, Tatiane Alves. "Fatores associados a adesão ao tratamento dos pacientes com fenilcetonúria acompanhados pelo Serviço de Genética Médica do Hospital de Clinícas de Porto Alegre." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2010. http://hdl.handle.net/10183/26896.

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Introdução: Os Erros Inatos do Metabolismo ocorrem devido a um defeito enzimático que determina um bloqueio em uma via metabólica, sendo a maioria herdada de forma autossômica recessiva. A fenilcetonúria (PKU) é um erro inato do metabolismo associado à atividade deficiente da enzima hepática fenilalanina hidroxilase, a qual converte a fenilalanina em tirosina. Em conseqüência, os pacientes apresentam níveis séricos elevados de fenilalanina. Quando não diagnosticada e tratada precocemente a PKU causa danos neurológicos irreversíveis. O tratamento consiste em uma dieta restrita em fenilalanina,

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20

Brewer, Judy. "Metabolic Modeling of Inborn Errors of Metabolism: Carnitine Palmitoyltransferase II Deficiency and Respiratory Chain Complex I Deficiency." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:24078365.

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The research goal was to assess the current capabilities of a metabolic modeling environment to support exploration of inborn errors of metabolism (IEMs); and to assess whether, drawing on evidence from published studies of EMs, the current capabilities of this modeling environment correlate with clinical measures of energy production, fatty acid oxidation, accumulation of toxic by-products of defective metabolism, and mitigation via therapeutic agents. IEMs comprise several hundred disorders of energy production, often with significant impact on morbidity and mortality. Despite advances in g

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21

Wilson, Aaron. "Molecular genetics and characterisation of functional methionine synthase deficiency : mutation analysis and gene cloning." Thesis, McGill University, 1998. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=21665.

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Methionine synthase (MS) is a vitamin B12(cobalamin;cbl) dependent enzyme that catalyses the methylation of homocysteine to methionine. It uses methyl-cbl as coenzyme and in ethyl tetrahydrofolate as the methyl donor. Methionine sythase reductase (MSR) maintains MS in it active state using S-adenosyl methionine as the methyl donor. Functional MS deficiency may occur as a result of a defect in either enzyme. Patients with this disorder have been classified into two complemetation groups according to which protein is defective: cblG patients are deficient in MS and cblE patients in MSR. A subset

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22

Nowacki, Piotr Marek. "Design, development, and deployment of a locus specific mutation database : the PAHdb example." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape10/PQDD_0004/MQ44234.pdf.

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Roy, Stéphane. "Regulation of 1,25 dihydroxyvitamin D3-24-hydroxylase gene expression." Thesis, McGill University, 1997. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=34441.

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The first three studies in this thesis address the mechanism for the aberrant fall in serum 1,25-dihydroxyvitamin D$ sb3$ (1,25-(OH)$ sb2$D$ sb3 rbrack$ and increase in renal 1,25-(OH)$ sb2$D$ sb3$-24-hydroxylase(24-hydroxylase) activity in X-linked hypophosphatemic mice (Hyp). The 24-hydroxylase is the first enzyme in the C-24 oxidation pathway that degrades the vitamin D hormone to its final inactivation product, calcitroic acid. We demonstrated that: (i) the aberrant increase in 24-hydroxylase activity in Pi-deprived Hyp mice is specific to the kidney and is the result of an increase in enz

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24

Lewis, Martin David. "Human lysosomal sulphate transport." Title page, contents and abstract only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phl6752.pdf.

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Addendum inserted at back Includes bibliographical references (leaves 266-287). 1. Introduction -- 2. Materials and general methods -- 3. Characterisation and partial purification of the lysosomal sulphate transporter -- 4. Identification of proteins involved in lysosomal sulphate transport -- 5. The relationship between a sulphate anion transporter family and the lysosomal sulphate transporter -- 6. Investigation of sulphate transport in human skin fibroblasts -- 7. Concluding remarks

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25

Cochran, Brittany Paige. "Nutrition Support and Newborn Screening in the NICU Population: Is There a Link?" Thesis, Virginia Tech, 2010. http://hdl.handle.net/10919/76756.

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Background: Recent research is revealing the high rate of false-positive screening results for IEMs in the NICU population. No study published to date has specifically studied the possible relationship between nutrition and newborn screening in this population. Objective: It is suspected that NICU infants who receive PN are more likely to have abnormal newborn screening results than infants who receive EN. An understanding of the role of nutrition will assist in developing protocols for screening in the NICU and decrease false-positives. Design: Infants admitted to the NICU between January

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26

Tappin, David Michael. "Prevalence of HIV infection in childbearing women in Scotland : a project testing inborn errors screening cards for HIV-1 antibodies." Thesis, University College London (University of London), 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.338468.

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27

Marx, Laura. "Parents’ Reflections of their Child’s Initial Visit to Metabolic Clinic: A Qualitative Study." University of Cincinnati / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1553513682882592.

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28

Spiegel, Erin Kathleen. "Psychomotor deficits in mice transgenic for a mutant adenylosuccinate lyase associated with autism in humans /." Connect to full text via ProQuest. IP filtered, 2006.

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Thesis (Ph.D. in Human Medical Genetics) -- University of Colorado at Denver and Health Sciences Center, 2006.<br>Typescript. Includes bibliographical references (leaves 127-143). Free to UCDHSC affiliates. Online version available via ProQuest Digital Dissertations;

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29

Lalovic, Aleksandra. "The relationship between lipid metabolism and suicidal behaviour : clinical and molecular studies." Thesis, McGill University, 2007. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=103207.

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Suicide continues to claim hundreds of thousands of lives worldwide each year, in spite of the significant progress of research efforts aimed at understanding the complexity of this tragic behaviour. Data accumulated over the last decades suggest a certain biological predisposition to suicidal behaviour. Among the possible biological risk factors, cholesterol has frequently been cited. Several lines of evidence support the relationship between altered lipid metabolism, particularly low levels of serum cholesterol, and suicidal behaviour, yet the possible mechanisms governing the relationship r

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30

Nalin, Tatiéle. "Hiperfenilalaninemia por deficiência de fenilalanina hidroxilase : avaliação da responsividade ao BH4 em pacientes acompanhados no Serviço de Genética Médica do HCPA e que apresentam controle metabólico adequado." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2011. http://hdl.handle.net/10183/31887.

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Introdução: Estudos recentes, utilizando vários protocolos, têm demonstrado que pacientes com Hiperfenilalaninemia por deficiência de fenilalanina hidroxilase (HPA-PAH) podem apresentar redução das concentrações plasmáticas de fenilalanina (Phe) mediante a administração de tetrahidrobiopterina (BH4). Objetivo: Determinar, em uma amostra de pacientes brasileiros com HPA-PAH, a responsividade à administração de dose única de BH4 por meio de um protocolo incluindo o teste de sobrecarga simples de Phe e o teste combinado de sobrecarga de Phe+BH4. Métodos: Foram incluídos no estudo pacientes com id

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31

Grecco, Mariana Setanni. "Síndrome HELLP e defeitos de beta oxidação de ácidos graxos de cadeia longa hidroxi-acil: um estudo de caso-controle." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/17/17144/tde-29082016-114203/.

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Introdução: A enzima 3-hidroxiacil CoA desidrogenase de cadeia longa (LCHAD) é uma das enzimas envolvidas na beta-oxidação mitocondrial de ácidos graxos e faz parte do complexo enzimático chamado proteína trifuncional. Sua deficiência segue um modelo de herança autossômica recessiva com uma mortalidade maior que 70%, porém um tratamento dietoterápico adequado reduz substancialmente a morbimortalidade. Estudos recentes descreveram que gestantes de fetos homozigóticos para defeitos de LCHAD apresentam grandes chances de desenvolver síndrome HELLP e doença hepática aguda da gestação, com risco de

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32

Freeman, Craig. "The lysosomal degradation of heparan sulphate : a comparative study of the physical and catalytic properties of the heparan sulphate degradative enzymes /." Title page, contents and abstract only, 1991. http://web4.library.adelaide.edu.au/theses/09PH/09phf855.pdf.

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33

Moreno, Carolina Araujo 1981. "Estudo da etiopatogenia da hidropisia fetal não-imune a partir de uma série de casos utilizando um protocolo de investigação ampliado." [s.n.], 2013. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308790.

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Orientador: Denise Pontes Cavalcanti<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-22T09:53:23Z (GMT). No. of bitstreams: 1 Moreno_CarolinaAraujo_M.pdf: 4072523 bytes, checksum: 09921eee06d7c1098048c98a3f891b33 (MD5) Previous issue date: 2013<br>Resumo: A hidropisia fetal não-imune (HFNI) é causada por um grupo heterogêneo de condições e atualmente corresponde à maior parte dos casos de hidropisia fetal. Em função da ampla diversidade etiopatogênica, a investigação dos casos de HFNI constitui um desafio dia

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34

Mezzomo, Nathana Jamille. "AVALIAÇÃO DE LIPOSSOMAS COM CREATINA SOBRE O METABOLISMO CEREBRAL DE RATOS WISTAR COM HIPERFENILALANINEMIA." Centro Universitário Franciscano, 2015. http://www.tede.universidadefranciscana.edu.br:8080/handle/UFN-BDTD/535.

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Submitted by MARCIA ROVADOSCHI (marciar@unifra.br) on 2018-08-16T19:41:42Z No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Dissertacao_NathanaJamilleMezzomo.pdf: 2403536 bytes, checksum: a811beb07b8f995e286c3f3f76fad6bd (MD5)<br>Made available in DSpace on 2018-08-16T19:41:42Z (GMT). No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Dissertacao_NathanaJamilleMezzomo.pdf: 2403536 bytes, checksum: a811beb07b8f995e286c3f3f76fad6bd (MD5) Previous issue date: 2015-03-27<br>Phenylketonuria (PKU) is an inborn erro

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35

Carter, Kevin C. (Kevin Craig). "Population genetic variation at the human phenylalanine hydroxylase locus." Thesis, McGill University, 1996. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=23991.

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Denaturing gradient gel electrophoresis (DGGE) and sequencing of the PAH locus has found 38 different mutations on 141 chromosomes in the PKU patients resident in Quebec; mutation analysis is now 92.5% complete. Two novel disease producing alleles (K421, R157N) and one silent allele (IVS6 nt-55) were discovered in this project; these mutations remain unique to the Quebec population. Three novel mutation-(haplotype) combinations were also found (S67P (H1), G218V (H2), V245A (H7)); they are not at hypermutable sites and are therefore compatible with a single homologous recombination event betwee

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Sim, Keow Giak. "Quantitative Fibroblast Acylcarnitine Profiling In The Diagnostic and Prognostic Assessment of Mitochondrial fatty acid [beta]-oxidation disorders." Thesis, The University of Sydney, 2002. http://hdl.handle.net/2123/801.

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Mitochondrial fatty acid ß-oxidation disorders are a group of clinically and biochemically heterogeneous defects mainly associated with intolerance to catabolic stress. The diseases are potentially fatal, but treatable and the prognosis for most diagnosed disorders is generally favourable. Early diagnosis is thus important to prevent morbidity and mortality. This project describes an improved and validated quantitative fibroblast acylcarnitine profile assay for the investigation of suspected fatty acid ß-oxidation disorders. Intact cells were incubated with deuterium-labelled hexadecanoate

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Harper, Peter Andrew Windsor. "Studies on neurological disorders of neonatal calves associated with spongy changes in the central nervous system : neuroaxial oedema and the inborn errors of amino acid metabolism." Thesis, The University of Sydney, 1987. https://hdl.handle.net/2123/25996.

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Investigations of neurological disease in neonatal calves were conducted over a four and a half year period. The studies commenced with so called Hereditary Neuraxial Oedema of Poll Hereford calves. It was determined that two distinct disease entities in this breed had led to confusion regarding the diagnosis of this disorder.

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Rahman, Alvi. "Estimating Screening Results Following the Introduction of Next-generation Sequencing Into Newborn Screening." Thesis, Université d'Ottawa / University of Ottawa, 2017. http://hdl.handle.net/10393/36988.

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Objective: The objective of this thesis was to estimate the impact on newborn screening (NBS) results of changing screening technology from tandem mass spectrometry (MS/MS) to an approach using targeted next-generation sequencing (T-NGS) and MS/MS in parallel. Methods: We integrated results of an analysis of MS/MS screening data for phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency; and a query of genetic compendia for variants of genes associated with the two disorders. Results: The introduction of T-NGS into NBS may reduce nearly 80% of false positives that a

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Gradinger, Abigail. "Atypical methylmalonic aciduria : frequency of mutations in the methylmalonyl-CoA epimerase (MCEE) gene." Thesis, McGill University, 2007. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=101848.

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Methylmalonic aciduria results from defects in the enzyme methylmalonyl-CoA mutase and from defects in the synthesis of the enzyme's cofactor adenosylcobalamin. Two patients who excrete methylmalonic acid have been shown to have a homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE). To further understand the causes of methylmalonic acid excretion, the MCEE gene was sequenced in 229 patients who excreted methylmalonic acid for which no cause was known. Mutations were detected in five patients. Fusion of fibroblast lines from two patients with a homozygous nonsense mutati

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Mirandola, Sandra Regina. "Disfunção mitocondrial induzida por metilmalonato e 3-nitropropionato." [s.n.], 2004. http://repositorio.unicamp.br/jspui/handle/REPOSIP/311828.

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Orientador: Roger Frigerio Castilho<br>Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-11T10:41:34Z (GMT). No. of bitstreams: 1 Mirandola_SandraRegina_D.pdf: 3705031 bytes, checksum: e1e34dd5e1b3949d9c308b3c20a19787 (MD5) Previous issue date: 2008<br>Resumo: A acidemia metilmalônica (MMAemia) é uma desordem metabólica hereditária do metabolismo de aminoácidos com cadeia ramificada e de ácidos graxos com cadeia ímpar, envolvendo um defeito na conversão de metilmalonil-CoA a succinil-CoA. Manifestações sistêmicas e neur

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Herber, Silvani. "Doença da urina do xarope do bordo no Brasil : um panorama das duas últimas décadas." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2012. http://hdl.handle.net/10183/48974.

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Introdução: A Doença da Urina do Xarope do Bordo (DXB) é um Erro Inato do Metabolsimo (EIM), causada pela deficiência da atividade do complexo enzimático desidrogenase dos L-cetoácidos de cadeia ramificada (CACR). O programa público brasileiro de triagem neonatal não inclui o diagnóstico e o tratamento da DXB. Objetivo: Caracterizar aspectos relacionados ao diagnóstico e ao tratamento de pacientes brasileiros com DXB. Metodologia: Estudo retrospectivo. Os pacientes foram identificados a partir dos registros de laboratório considerado referência nacional para o diagnóstico de DXB, e de contato

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Holmberg, Larsson Albin. "Biochemical characterization of resurrected ancestral ammonia lyases." Thesis, KTH, Skolan för kemi, bioteknologi och hälsa (CBH), 2019. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-261355.

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This study set out to express, purify and characterize twelve ammonia lyase enzymes for potential application as a supplement to a treatment of an inborn error of metabolism disease. The DNA sequence for two wild-type ammonia lyases, three modified ammonia lyases and seven resurrected ancestral ammonia lyases had been synthesized and cloned in vectors. These were transformed into Escherichia coli, expressed, purified using immobilized metal affinity chromatography and size exclusion chromatography and characterized. Ten of the enzymes were successfully expressed and purified. All enzymes had a

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Alves, Sofia Alexandra Micaelo. "Plano de comunicação integrada de marketing para um Laboratório de Análises Clínicas." Master's thesis, Instituto Superior de Economia e Gestão, 2013. http://hdl.handle.net/10400.5/11086.

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Mestrado em Marketing<br>O principal objetivo da Comunicação Integrada de Marketing é juntar todas as ferramentas de marketing e comunicar de forma clara e consistente para que a empresa possa alcançar o público pretendido. Este Plano de Comunicação Integrada de Marketing destina-se a apresentar à população todos os serviços, conhecimento e tecnologia de que dispõe o Laboratório de Análises Clínicas da Faculdade Farmácia da Universidade de Lisboa. Pretende-se aumentar a notoriedade do laboratório bem como a preferência pelo mesmo. Para alcançar este objetivo recorre-se à comunicação interna

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García, Villoria Judit. "Deficiencia de 2-metil-3-hidroxibutiril-CoA deshidrogenasa (MHBD o HSD10) e implicaciones en la enfermedad de Alzheimer." Doctoral thesis, Universitat de Barcelona, 2016. http://hdl.handle.net/10803/398985.

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Esta tesis se basa en diagnóstico de pacientes con deficiencia de 2 metil 3 hidroxibutiril CoA deshidrogenasa (MHBD o HSD10) y en el estudio de la fisiopatología de esta enfermedad y de su implicación en la Enfermedad de Alzheimer (EA). El desarrollo de un método cuantitativo de metabolitos clave en orina y un método de análisis enzimático de la proteína HSD10 en fibroblastos cultivados, así como el análisis molecular, de los niveles de HSD10 y de los estudios patogenicidad de las mutaciones encontradas, nos ha permitido el diagnóstico de 6 pacientes y 8 portadoras, que representan el 37% d

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Hinttala, R. (Reetta). "Genetic causes of mitochondrial complex I deficiency in children." Doctoral thesis, University of Oulu, 2006. http://urn.fi/urn:isbn:9514282884.

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Abstract The mitochondrial oxidative phosphorylation system is composed of five multisubunit enzyme complexes. Complex I is the first and largest of these, containing 46 subunits, seven encoded by mitochondrial DNA (mtDNA) and the rest by nuclear DNA. Isolated complex I deficiency is a major cause of metabolic errors in infancy and childhood, presenting as encephalomyopathies or multisystem disorders. Due to the bigenomic origin of complex I, the genetic causes of these defects can be either mitochondrial or nuclear. The object of the present work was to identify the underlying genetic cause

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Sim, Keow Giak. "Quantitative Fibroblast Acylcarnitine Profiling In The Diagnostic and Prognostic Assessment of Mitochondrial Fatty Acid �-Oxidation Disorders." University of Sydney. Paediatrics and Child Health, 2002. http://hdl.handle.net/2123/801.

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Mitochondrial fatty acid �-oxidation disorders are a group of clinically and biochemically heterogeneous defects mainly associated with intolerance to catabolic stress. The diseases are potentially fatal, but treatable and the prognosis for most diagnosed disorders is generally favourable. Early diagnosis is thus important to prevent morbidity and mortality. This project describes an improved and validated quantitative fibroblast acylcarnitine profile assay for the investigation of suspected fatty acid �-oxidation disorders. Intact cells were incubated with deuterium-labelled hexadecanoate

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Lemonde, Hugh Arnold. "A study using tandem mass spectrometry and molecular biological techniques to facilitate the diagnoses of inborn errors of bile acid synthesis : with particular reference to #delta#'4-3-oxostero-reductase synthesis deficiency." Thesis, University College London (University of London), 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.342301.

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Pérez, Martí Albert. "The role of FGF21 in the metabolic response to amino acid restriction." Doctoral thesis, Universitat de Barcelona, 2017. http://hdl.handle.net/10803/401895.

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Obesity and associated metabolic diseases have reached epidemic proportions, affecting not only high-income countries but also low- and middle-income ones. In this context, the search for therapeutic approaches to treat obesity is becoming a priority worldwide. In this regard, the metabolic hormone fibroblast growth factor 21 (FGF21) has been identified as a potential candidate for the treatment of obesity and metabolic syndrome. Previous work by our group described that FGF21 is highly induced in liver in response to leucine deprivation and that the transcription factor ATF4 mediates this

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Chipeaux, Caroline. "Recherche et validation de biomarqueurs lipidiques du globule rouge par chromatographie en phase liquide couplée à la spectrométrie de masse. Application au diagnostic et au suivi thérapeutique de la maladie de Gaucher." Thesis, Université Paris-Saclay (ComUE), 2019. http://www.theses.fr/2019SACLS419.

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Chez l’homme, les erreurs innées du métabolisme des lipides sont dues à des déficits enzymatiques, entraînant une accumulation intracellulaire de substrats lipidiques. Il en résulte un large éventail de symptômes tels que des atteintes viscérales, osseuses et dans certains cas neurologiques. En outre, de nombreux patients atteints de ce type de maladie présentent des anomalies hématologiques et vasculaires attribuées à des anomalies rhéologiques du globule rouge (GR). Ces observations ont conduit à l’hypothèse de l’existence d’un lien entre les propriétés anormales du GR et sa composition lipi

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Benetó, Gandia Noelia. "iPSCs, CRISPR/Cas9 y protocolos de diferenciación basados en factores de transcripción para generar nuevos modelos neuronales y astrocíticos del síndrome de Sanfilippo." Doctoral thesis, Universitat de Barcelona, 2020. http://hdl.handle.net/10803/673991.

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El objetivo general de esta tesis doctoral ha sido la generación de nuevos modelos celulares para el síndrome de Sanfilippo y su utilización para ensayar una aproximación terapéutica para esta enfermedad basada en el uso de siRNAs como terapia de reducción de sustrato. Los objetivos concretos han sido: 1) Generación de modelos celulares • Obtención y caracterización de líneas isogénicas con mutaciones en el gen HGSNAT derivadas de células madre pluripotentes inducidas de donantes sanos, mediante la tecnología de edición génica CRISPR/Cas9. • Diferenciación de las células madre pl

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