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Dissertations / Theses on the topic 'Glycogen storage disease type II'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

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1

Remiche, Gauthier. "Genotype-phenotype Correlation in Late-onset Glycogen Storage Disease Type II, Early Diagnosis and Prognostic Determinants." Doctoral thesis, Universite Libre de Bruxelles, 2016. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/227822.

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Glycogen storage disease type II (GSDII) is an autosomal recessive lysosomal storage disorder caused by acid alpha-1,4-glucosidase (GAA) deficiency. This study aimed to provide an in-depth description of a late-onset GSDII (LO-GSDII) cohort (n=36) and assess potential genotype-phenotype correlation. We performed a clinical record-based study, some patients (n= 19) were also followed prospectively. Phenotypes were highly variable. We focused our clinical assessment onrespiratory failure, as it is the most frequent cause of death in LO-GSDII. In addition to standard spirometric measures, in a su

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2

Nascimbeni, Anna Chiara. "Glycogenosys type II and Danon Disease: molecular study and muscle pathology." Doctoral thesis, Università degli studi di Padova, 2009. http://hdl.handle.net/11577/3426098.

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The objective of this study was to examine at molecular, biochemical and muscle pathology level two groups of patients affected with Danon disease and GSDII, in order to get new insights that might help in tracing genotype-phenotype correlations and to delineate their pathological mechanisms. Glycogen storage disease type II (GSDII) is an autosomal recessive disorder (OMIM # 232300) caused by the deficiency of the lysosomal enzyme acid ?-glucosidase or acid maltase (EC 3.2.1.20/3), which catalyses the hydrolysis of ?-1,4 and ?-1,6 links of glycogen. The enzyme deficiency leads to lysosomal a

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3

Hermans, Monique Maria Petra. "Structural and functional analysis of lysosomal [alpha]-glucosidase in relation to glycogen storage disease type II." [S.l.] : Rotterdam : [The Author] ; Erasmus University [Host], 1993. http://hdl.handle.net/1765/13746.

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4

Curlis, Yvette M. "Attitudes towards newborn screening for Pompe disease among affected adults, family members and parents of 'healthy' children /." Connect to thesis, 2009. http://repository.unimelb.edu.au/10187/7065.

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Pompe disease is a rare autosomal recessive condition caused by a deficiency in lysosomal alpha glucosidase. It is a progressive and often fatal muscular disease with wide variation in clinical presentation. Two broad clinical categories of Pompe disease have been identified; infantile- and late- onset. In the past decade, enzyme replacement therapy has shown promising results in treating the underlying pathology, resulting in improved clinical outcome. Clinical trials indicating that initiation of treatment at an earlier disease stage leads to a higher chance of preventing permanent damage ha

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5

Cecchi, Alana. "Analysis of Parental Perception of Swallowing and Voice in Infants and Children with Pompe Disease." University of Cincinnati / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1307125630.

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6

Schleissing, Mary Rucker. "Biochemical and functional analysis after in utero delivery of recombinant adeno-associated virus to a mouse model of glycogen storage disease type II." [Gainesville, Fla.] : University of Florida, 2002. http://purl.fcla.edu/fcla/etd/UFE0000603.

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7

Matsunaga, Erika Midoli. "Distribuição do tipo de fibras musculares e sua correlação genotípica na doença de Pompe." Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-29042009-102848/.

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A doença de Pompe (GSDII), autossômica recessiva, é causada pela deficiência da enzima lisossomal que degrada o glicogênio, -glucosidase ácida (GAA). O quadro clínico varia de acordo com a idade de início da doença, grau de progressão e envolvimento dos tecidos: predominantemente cardíaco e muscular esquelético na forma de início-precoce (FIP) e mais restrito no músculo esquelético na forma de início-tardio (FIT). A sobrevida média na FIP é de 9-12 meses. Com avanço dos métodos histológicos, histoquímicos e imunoistoquímicos intensificou-se a análise estrutural e funcional dos tipos de fibras

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8

Bhattacharya, K. "Improvement of the nutritional management of glycogen storage disease type I." Thesis, University College London (University of London), 2010. http://discovery.ucl.ac.uk/19282/.

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The nutritional management of glycogen storage disease has often been called “the intensive regimen”. The intensive regimen may not be without consequence. This thesis aims to characterise the intensive regimen and implement changes. Chapter 1 discusses concepts of glucose homeostasis in humans and introduces the glycogen storage diseases as a group of disorders. The metabolic physiology of those glycogen storage disorders associated with hypoglycaemia are reviewed and traditional methods used to ameliorate these metabolic disturbances are discussed. Methods used in the study include cornstarc

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9

Crane, Bayley. "Efficacy of Gene Therapy in Dogs with Glycogen Storage Disease Type Ia." NCSU, 2009. http://www.lib.ncsu.edu/theses/available/etd-03202009-163526/.

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Glycogen storage diseases (GSD) are inherited metabolic disorders that affect glycogen use and storage. People with GSD Ia lack the enzyme glucose-6-phosphatase (G6Pase). As a result, these people are unable to convert liver glycogen to free glucose and develop severe hypoglycemia. Patients with GSD also develop growth retardation, hepatomegaly, renomegaly, hypertriglyceridemia, hypercholesterolemia, and hyperlactacidemia. No cure for GSD Ia currently exists. Patients are treated symptomatically with repeated naso-gastric feedings and glucose infusions to maintain normal blood glucose concentr

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10

Ichikawa, Shoji. "The molecular genetic analysis of three human neurological disorders." free online free to MU campus, others may purchase, 2002. http://wwwlib.umi.com/cr/mo/preview?3074409.

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11

Plona, Kathleen Lynn. "Exploring molecular pathogenesis to streamline future therapeutics in rare diseases using GSD1a as a model." Case Western Reserve University School of Graduate Studies / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=case1624620295305759.

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12

Vidal, Patrice. "Développement d'un traitement de thérapie génique pour la glycogénose de type III." Electronic Thesis or Diss., Sorbonne université, 2018. http://www.theses.fr/2018SORUS571.

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La glycogénose de type III (GSDIII) est une maladie génétique récessive due à des mutations affectant l’activité de l'enzyme de débranchement du glycogène (GDE). Les symptômes sont une hépatomégalie et une hypoglycémie chez l’enfant puis une faiblesse musculaire dégénérative chez l’adulte. Aucun traitement curatif n'existe pour GSDIII. Nous avons dans un premier temps développé un modèle de souris GSDIII viable possédant phénotype proche de la maladie de l’homme. La thérapie génique permet le traitement des maladies métaboliques et neuromusculaires. En thérapie génique in vivo, les vecteurs dé

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13

Monteillet, Laure. "La maladie chronique rénale de la glycogénose de type I, des mécanismes moléculaires aux nouvelles stratégies thérapeutiques." Thesis, Lyon, 2019. http://www.theses.fr/2019LYSE1140.

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La glycogénose de type Ia (GSDIa) est une maladie métabolique rare causée par une déficience en glucose-6-phosphatase (G6Pase), due à des mutations de la sous-unité catalytique (G6PC). Cette enzyme confère au foie, aux reins et à l’intestin la capacité de produire du glucose. Les patients atteints de GSDIa sont donc incapables de produire du glucose et souffrent d’hypoglycémies sévères lors de jeûnes courts. De plus, la déficience en G6Pase provoque une accumulation de glucose-6 phosphate dans le foie et les reins, conduisant à l’accumulation de glycogène et de lipides. A long terme, la plupar

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14

Gjorgjieva, Monika. "Identification des mécanismes moléculaires impliqués dans le développement des pathologies hépatiques et rénales dans des modèles murins de glycogénose de type 1a." Thesis, Lyon, 2018. http://www.theses.fr/2018LYSE1007/document.

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La glycogénose de type I (GSDI) est une maladie génétique rare, due à une déficience en glucose-6 phosphatase (G6Pase), enzyme clé de la production endogène de glucose. En plus des hypoglycémies sévères, la perte de l'activité G6Pase conduit à l'accumulation de glycogène, mais aussi de lipides dans le foie et les reins. A long-terme, la plupart des patients développent des tumeurs hépatiques et une maladie rénale chronique (MRC).Le but de cette thèse a été de caractériser les mécanismes moléculaires impliqués dans la carcinogenèse hépatique et la MRC grâce à des modèles murins viables et uniqu

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15

Clar, Julie. "Nouvelles stratégies d’étude et de prévention des complications hépatorénales de la glycogénose de type Ia." Thesis, Lyon 1, 2014. http://www.theses.fr/2014LYO10163.

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La glycogénose de type Ia (GSDIa) est une maladie métabolique rare causée par un déficit en glucose-6- phosphatase (G6Pase), menant à l'absence de production endogène de glucose. Cette pathologie est caractérisée par des hypoglycémies sévères, une hépatomégalie et une stéatose hépatique ainsi qu'une néphromégalie. En absence de traitement curatif, la prise en charge de cette maladie repose actuellement sur des mesures diététiques très strictes. Cependant, des complications apparaissent avec l'âge comme le développement de tumeurs hépatiques et la progression de la néphropathie vers l'insuffisa

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16

Gjorgjieva, Monika. "Identification des mécanismes moléculaires impliqués dans le développement des pathologies hépatiques et rénales dans des modèles murins de glycogénose de type 1a." Electronic Thesis or Diss., Lyon, 2018. http://www.theses.fr/2018LYSE1007.

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La glycogénose de type I (GSDI) est une maladie génétique rare, due à une déficience en glucose-6 phosphatase (G6Pase), enzyme clé de la production endogène de glucose. En plus des hypoglycémies sévères, la perte de l'activité G6Pase conduit à l'accumulation de glycogène, mais aussi de lipides dans le foie et les reins. A long-terme, la plupart des patients développent des tumeurs hépatiques et une maladie rénale chronique (MRC).Le but de cette thèse a été de caractériser les mécanismes moléculaires impliqués dans la carcinogenèse hépatique et la MRC grâce à des modèles murins viables et uniqu

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17

Mutel, Élodie. "Caractérisation d’un nouveau modèle murin de glycogénose de type 1a : du métabolisme glucidique à la thérapie génique." Thesis, Lyon 1, 2011. http://www.theses.fr/2011LYO10005/document.

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La glycogénose de type 1a (GSD1a) est une maladie métabolique rare liée à une absence d’activité glucose‐6 phosphatase (G6Pase). La G6Pase est une enzyme clé de la production endogène de glucose (PEG) catalysant l’hydrolyse du G6P en glucose avant sa libération dans le sang. Cette fonction est restreinte au foie, aux reins et à l’intestin. La GSD1a est caractérisée par des hypoglycémies chroniques, une hépatomégalie associée à une stéatose hépatique et une néphromégalie. A plus longterme, la plupart des patients développent des adénomes. Un modèle murin de GSD 1a existe mais les souris ne surv

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18

Rossiaud, Lucille. "Modélisation et compréhension de la glycogénose de type III grâce à l'utilisation de cellules souches pluripotentes induites humaines." Electronic Thesis or Diss., université Paris-Saclay, 2024. https://www.biblio.univ-evry.fr/theses/2024/interne/2024UPASL091.pdf.

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La glycogénose de type III (GSDIII) est une maladie génétique rare due à un déficit en enzyme débranchante du glycogène (GDE), provoquant une accumulation de glycogène dans le foie, le cœur et les muscles squelettiques. Alors que les atteintes hépatiques dominent durant l'enfance, les atteintes musculaires progressent et deviennent prédominantes à l'âge adulte. L'absence de modèles humains freine la compréhension de cette pathologie et la mise au point de traitements.Dans ce contexte, mon premier objectif était de créer des modèles pathologiques humains in vitro à partir de cellules souches pl

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19

Conway, Betsy Ann. "The effects of laforin, malin, Stbd1, and Ptg deficiencies on heart glycogen levels in Pompe disease mouse models." Thesis, 2015. http://hdl.handle.net/1805/7979.

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Indiana University-Purdue University Indianapolis (IUPUI)<br>Pompe disease (PD) is a rare metabolic myopathy characterized by loss of acid alpha-glucosidase (GAA), the enzyme responsible for breaking down glycogen to glucose within the lysosomes. PD cells accumulate massive quantities of glycogen within their lysosomes, and as such, PD is classified as a “lysosomal storage disease” (LSD). GAA-deficient cells also exhibit accumulation of autophagic debris. Symptoms of severe infantile PD include extreme muscle weakness, hypotonia, and hypertrophic cardiomyopathy, resulting in death before one y

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20

Jiang, Sixin. "Starch-binding domain-containing protein 1: a novel participant in glycogen metabolism." Thesis, 2011. http://hdl.handle.net/1805/2642.

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Indiana University-Purdue University Indianapolis (IUPUI)<br>Glycogen, a branched polymer of glucose, acts as an intracellular carbon and energy reserve in many tissues and cell types. The breakdown of glycogen by hormonally regulated degradation involving the coordinated action of glycogen phosphorylase and debranching enzyme has been well studied. However, the importance of lysosomal disposal of glycogen has been underscored by a glycogen storage disorder, Pompe disease. This disease destroys tissues by over-accumulating glycogen in lysosomes due to a genetic defect in the lysosomal acid

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21

"Molecular basis of glycogen storage disease type 1." 2000. http://library.cuhk.edu.hk/record=b6073234.

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Lam Ching-wan.<br>"May 2000."<br>Thesis (Ph.D.)--Chinese University of Hong Kong, 2000.<br>Includes bibliographical references (p. 91-101).<br>Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web.<br>Electronic reproduction. Ann Arbor, MI : ProQuest Information and Learning Company, [200-] System requirements: Adobe Acrobat Reader. Available via World Wide Web.<br>Mode of access: World Wide Web.<br>Abstracts in English and Chinese.

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22

"Murine glucose-6-phosphatase-beta deficiency is associated with neutropenia, neutrophil dysfunction, reduced fertility and pregnancy-associated mortality." Thesis, 2009. http://library.cuhk.edu.hk/record=b6075315.

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G6Pase-alpha and G6Pase-beta share kinetic properties and active site structures, which lie on the luminal side of the endoplasmic reticulum (ER). For hydrolysis of G6P to glucose, G6Pase-alpha or G6Pase-beta must couple with an ubiquitously expressed ER-transmembrane protein, the G6P transporter (G6PT) that translocates G6P from the cytoplasm into the lumen of the ER. The primary role of the G6Pase/G6PT complex is therefore to provide endogenous glucose to the ER lumen. The essential role of the G6Pase-alpha/G6PT complex in glucose homeostasis has been well established, and the deficiencies i

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23

"Pro-oxidative effect of Chinese herbal medicine on glucose-6-phosphate dehydrogenase deficiency." Thesis, 2006. http://library.cuhk.edu.hk/record=b6074271.

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For the development of a G6PD-deficient mouse model, we introduced the mutant Gpdxa-m1Neu allele (a severe ENU-induced mutation that results in 13-15% G6PD activities of wild type littermates) into the C57L/J background (a strain that constitutively exhibits low G6PD activity) through a breeding program. Of significance is that 78% of the F2 generation had G6PD activities <2 U/g Hb, levels similar to those of severe G6PD deficiency in human. The efficacy of this model was preliminary verified by the known haemolytic agent, naphthalene, as demonstrated by the decrease of GSH/GSSG ratio by 24

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24

Rybová, Jitka. "Patobiochemie lysosomálních střádavých onemocnění: studie Fabryho nemoci a příprava buněčných modelů X-vázaných chorob." Doctoral thesis, 2018. http://www.nusl.cz/ntk/nusl-388707.

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Human autopsy or biopsy tissue samples, mouse models and cell cultures of various types represent the most common materials in the investigation of cell pathogenesis of inherited diseases. This dissertation is devoted to all these approaches in the study of two X-linked lysosomal storage diseases, Fabry disease (FD,α-galactosidase A (AGAL) deficiency) and mucopolysaccharidosis type II (MPSII, idunorate-2- sulfatase (IDS) deficiency). The primary goal of the work was analysis of lipid blood group B antigens with terminal α-galactose (B-GSL) in the pancreas of FD patients with blood group B (FD-

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