Thematische Bibliographien / Metabolism, Inborn errors of

Inhaltsverzeichnis

  1. Zeitschriftenartikel
  2. Dissertationen
  3. Bücher
  4. Buchteile
  5. Konferenzberichte

Auswahl der wissenschaftlichen Literatur zum Thema „Metabolism, Inborn errors of“

Autor: Grafiati
Veröffentlicht am 4. Juni 2021
Zuletzt aktualisiert am 31. Juli 2024

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Zeitschriftenartikel zum Thema "Metabolism, Inborn errors of"

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BURTON, BARBARA K. "Inborn Errors of Metabolism." Pediatrics 80, no. 4 (October 1, 1987): 600. http://dx.doi.org/10.1542/peds.80.4.600.

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In Reply.— I thank Drs Wiswell and Weisse for their interesting observations regarding the occurrence of intracranial hemorrhage in term infants with inborn errors of metabolism. There is no question that intracranial hemorrhage is a potentially devastating, although presumably uncommon, complication of these disorders. In my personal experience, neonates with inborn errors of metabolism who have experienced intracranial hemorrhages have all had obvious predisposing factors, such as severe metabolic acidosis, which would provide a clue to the underlying diagnosis.
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Levy, Paul A. "Inborn Errors of Metabolism." Pediatrics In Review 30, no. 4 (April 1, 2009): e22-e28. http://dx.doi.org/10.1542/pir.30.4.e22.

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WISWELL, THOMAS E., and MARTIN E. WEISSE. "Inborn Errors of Metabolism." Pediatrics 80, no. 4 (October 1, 1987): 599–600. http://dx.doi.org/10.1542/peds.80.4.599.

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To the Editor.— We read with great interest the review by Dr Burton on inborn errors of metabolism.1 These myriad disorders frequently present with clinical manifestations that are associated with a variety of more common neonatal diseases. Dr Burton is to be commended for presenting a lucid, rational approach for the diagnosis of these oft-confusing afflictions. However, there is another manifestation of these disorders, not previously recognized in the pediatric literature, that we wish to address.
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Levy, Paul A. "Inborn Errors of Metabolism." Pediatrics In Review 30, no. 4 (April 1, 2009): 131–38. http://dx.doi.org/10.1542/pir.30.4.131.

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Kiess, Wieland, Anna Kirstein, and Skadi Beblo. "Inborn errors of metabolism." Journal of Pediatric Endocrinology and Metabolism 33, no. 1 (January 28, 2020): 1–3. http://dx.doi.org/10.1515/jpem-2019-0582.

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Berry, Helen K. "Inborn Errors of Metabolism." Endocrinologist 2, no. 4 (July 1992): 276–77. http://dx.doi.org/10.1097/00019616-199207000-00011.

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Waber, Lewis. "Inborn Errors of Metabolism." Pediatric Annals 19, no. 2 (February 1, 1990): 105–18. http://dx.doi.org/10.3928/0090-4481-19900201-08.

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Giugliani, Roberto, Carlos S. Dutra-Filho, Maria L. Barth, Janice C. Dutra, Moacir Wajner, Clovis M. D. Wannmacher, and Lenir T. Montagner. "Inborn Errors of Metabolism." Clinical Pediatrics 28, no. 11 (November 1989): 494–97. http://dx.doi.org/10.1177/000992288902801101.

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Nyhan, William L., and Deborah L. Marsden. "Inborn errors of metabolism." Current Opinion in Pediatrics 2, no. 4 (August 1990): 749–52. http://dx.doi.org/10.1097/00008480-199008000-00022.

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Molleston, Jean P., and David H. Perlmutter. "Inborn errors of metabolism." Current Opinion in Pediatrics 4, no. 5 (October 1992): 798–804. http://dx.doi.org/10.1097/00008480-199210000-00012.

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Dissertationen zum Thema "Metabolism, Inborn errors of"

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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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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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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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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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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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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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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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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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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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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Bücher zum Thema "Metabolism, Inborn errors of"

1

Jürgen, Schaub, Van Hoof François 1935-, Vis H. L, Nestlé Nutrition S. A, and Nestlé Nutrition Workshop (24th : 1989 : Brussels, Belgium), eds. Inborn errors of metabolism. New York: Raven Press, 1991.

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Houser, Christine M. Pediatric Genetics and Inborn Errors of Metabolism. New York, NY: Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4939-0581-2.

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H, Fensom Anthony, ed. Genetic biochemical disorders. Oxford: Oxford University Press, 1985.

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Benson, P. F. Genetic biochemical disorders. Oxford [Oxfordshire]: Oxford University Press, 1985.

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H, Fensom Anthony, ed. Genetic biochemical disorders. Oxford: Oxford University Press, 1986.

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Kari, Carol. Gaucher's disease: A nurse's handbook : Clinical Center. [Bethesda, Md.?]: U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, Office of Clinical Reports and Inquiries, Clinical Center, 1986.

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1921-, Fernandes J., Saudubray J. M. 1937-, and Van den Berghe, Georges, 1938-, eds. Inborn metabolic diseases: Diagnosis and treatment. 2nd ed. Berlin: Springer-Verlag, 1995.

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International Congress of Inborn Errors of Metabolism (4th 1987 Sendai-shi, Miyagi-ken, Japan). Recent advances in inborn errors of metabolism: Proceedings of the Fourth International Congress of Inborn Errors of Metabolism, Sendai, Japan, May 28-30, 1987. Edited by Tada K. 1930-, Colombo Jean Pierre, and Desnick Robert J. Basel: Karger, 1987.

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R, Scriver Charles, ed. The metabolic & molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001.

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Nyhan, William L., Johannes Zschocke, and Georg F. Hoffmann. Inherited metabolic diseases: A clinical approach. Heidelberg: Springer, 2010.

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Buchteile zum Thema "Metabolism, Inborn errors of"

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Kamboj, Manmohan K. "Inborn Errors of Metabolism." In Neurodevelopmental Disabilities, 53–67. Dordrecht: Springer Netherlands, 2011. http://dx.doi.org/10.1007/978-94-007-0627-9_4.

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Holzman, Robert S., Thomas J. Mancuso, Navil F. Sethna, and James A. DiNardo. "Inborn Errors of Metabolism." In Pediatric Anesthesiology Review, 377–86. New York, NY: Springer New York, 2010. http://dx.doi.org/10.1007/978-1-4419-1617-4_24.

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Holzman, Robert S. "Inborn Errors of Metabolism." In Pediatric Anesthesiology Review, 607–20. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-60656-5_43.

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Holzman, Robert S. "Inborn Errors of Metabolism." In Pediatric Anesthesiology Review, 435–45. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-48448-8_30.

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Arnemann, J. "Inborn errors of metabolism." In Springer Reference Medizin, 1239–40. Berlin, Heidelberg: Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-662-48986-4_3508.

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Arnemann, J. "Inborn errors of metabolism." In Lexikon der Medizinischen Laboratoriumsdiagnostik, 1. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-662-49054-9_3508-1.

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Goetsch, Allison L., Dana Kimelman, and Teresa K. Woodruff. "Inborn Errors of Metabolism." In Fertility Preservation and Restoration for Patients with Complex Medical Conditions, 113–39. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-52316-3_7.

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Roesser, Jessica L. "Inborn Errors of Metabolism." In Encyclopedia of Autism Spectrum Disorders, 1–2. New York, NY: Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4614-6435-8_27-3.

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Burlina, Alberto, Andrea Celato, and Alessandro P. Burlina. "Inborn Errors of Metabolism." In Prognosis of Neurological Diseases, 217–47. Milano: Springer Milan, 2015. http://dx.doi.org/10.1007/978-88-470-5755-5_19.

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Babineau, Shannon E. "Inborn Errors of Metabolism." In Mount Sinai Expert Guides, 326–39. Chichester, UK: John Wiley & Sons, Ltd, 2016. http://dx.doi.org/10.1002/9781118621042.ch29.

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Konferenzberichte zum Thema "Metabolism, Inborn errors of"

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Fatouh, Mohamed. "597 Organization and provision of services for better management of inborn errors of metabolism." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference, Liverpool, 28–30 June 2022. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2022. http://dx.doi.org/10.1136/archdischild-2022-rcpch.320.

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Siddiqui, Duygu Özbek, and Leyla Tümer. "200 Do doctors know what they do not know about inborn errors of metabolism." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference, Glasgow, 23–25 May 2023. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2023. http://dx.doi.org/10.1136/archdischild-2023-rcpch.275.

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James, S., A. Sheerin, L. Grabowsky, S. Senanayake, Z. Abidin, J. O’Byrne, E. Treacy, and G. Pastores. "21 Cardiac investigations in adult inborn error of metabolism cohort." In Irish Cardiac Society Annual Scientific Meeting & AGM, Thursday October 17th – Saturday October 19th 2019, Galway, Ireland. BMJ Publishing Group Ltd and British Cardiovascular Society, 2019. http://dx.doi.org/10.1136/heartjnl-2019-ics.21.

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Rosso, Mattia, and Federico Rodriguez-Porcel. "Neuropsychiatric Presentations in Late-onset Inborn Errors of the Metabolism: A Systematic Review of the Literature (P2-12.008)." In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000202742.

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Engel, Sarah, Salman Rashid, Ali Beshri, and Amitha Ananth. "Cobalamin C Deficiency, an Inborn Error of Metabolism presenting with Subacute Neuropsychiatric Symptoms (P9-4.001)." In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000202441.

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de Melo, Laura Defensor Ribeiro, Saul Alquez Montano, Maria Avanise Yumi Minami, and Ana Paula Andrade Hamad. "Case series on type I gangliosidosis at a reference service for inborn errors of metabolism: from diagnostic strategies to therapeutic perspectives." In SBN Conference 2022. Thieme Revinter Publicações Ltda., 2023. http://dx.doi.org/10.1055/s-0043-1774551.

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Kutscherjawy, E., P. Hacke, K. Pauli, S. König, A. Tannous, and G. Tarusinov. "Tachyarrhythmia as a Primary Presentation in a Patient with Inborn Error of Metabolism—A Case Report." In The 54th Annual Meeting of the German Society for Pediatric Cardiology (DGPK). Georg Thieme Verlag KG, 2022. http://dx.doi.org/10.1055/s-0042-1742967.

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Stenzier, W., H. Ostermann, K. Ullrich, and J. van de loo. "ALTERATIONS OF THE HAEMOSTATIC SYSTEM IN SEVEN PATIENTS WITH HOMOCYSTINURIA." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643057.

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Homocystinuria is an inborn error of methionine metabolism accompanied by an increased risk of thromboembolism. Seven patients (5 female and 2 male) aged 16 to 25 years were investigated. Some showed highly pathological homocystine serum levels during the last year despite treatment. One patient’s history revealed a thrombotic event. All patients were studied for changes in coagulation and the platelet and fibrinolytic systems (the latter before and after venous occlusion). Among the data obtained the following were pathological:After venous occlusion normal values were obtained. These finding
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Santhanakrishnan, Arvind, Trent Nestle, Brian Moore, Ajit P. Yoganathan, and Matthew L. Paden. "Characterization of a Low Extracorporeal Volume, High Accuracy Pediatric Continuous Renal Replacement Therapy Device." In ASME 2012 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2012. http://dx.doi.org/10.1115/sbc2012-80210.

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The incidence of acute kidney injury (AKI) is commonly seen in critically ill children, the origins of which may be traced to a wide range of conditions such as inborn errors of metabolism, sepsis, congenital heart defects, bone marrow and organ transplantation, and to a lesser extent from multiple organ dysfunction syndrome (MODS) [1]. It is vital to provide a form of fluid and electrolyte clearance in these patients until native renal function improves. Nearly 3,600 critically ill children per year with acute kidney injury receive life-saving continuous renal replacement therapy (CRRT) in th
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Batani, V., E. Benetti, J. Mahajne, F. Segala, C. Minici, M. Lanzillotta, D. Colavito, and E. Della Torre. "POS0376 HUMAN INBORN ERRORS OF IMMUNITY IN IgG4 RELATED DISEASE." In EULAR 2024 European Congress of Rheumatology, 12-15 June. Vienna, Austria. BMJ Publishing Group Ltd and European League Against Rheumatism, 2024. http://dx.doi.org/10.1136/annrheumdis-2024-eular.3221.

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