Výsledky vyhledávání - "DISEASE TYPE IA"

Akademický článek

Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia

Autor: Rai‐Hseng Hsu, Hui‐An Chen, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Ju‐Li Lin, Hui‐Ling Weng, Yi‐Ting Lin, Yu‐Ching Lin, Ni‐Chung Lee

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)

Abstract Background Patients with glycogen storage disease type Ia (GSDIa) are prone to hypoglycemia. Uncooked cornstarch (CS) is the treatment, but maintaining nighttime blood glucose levels is still difficult. Methods The study enrolled patients wi

Externí odkaz: https://doaj.org/article/01c4fe3350914ee0a57502dc1abfcda5

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Akademický článek

Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry

Autor: Juan Du, Li-Min Dou, Yong-Hong Jin, Qing-Fen Wen, Ya-Fen Lin, Jian-She Wang

Publikováno v: Frontiers in Pediatrics, Vol 10 (2022)

ObjectiveTo report a case of glycogen storage disease (GSD) type Ia misdiagnosed as multiple acyl-coenzyme a dehydrogenase deficiency (MADD) by mass spectrometry.MethodsA 7 months old boy was admitted to our hospital for elevated transaminase levels

Externí odkaz: https://doaj.org/article/58e1783a82f44884a0eb89d58adb59bf

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Akademický článek

High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia

Autor: Martijn P.D. Haring, Fabian Peeks, Maaike H. Oosterveer, Martijn C.G.J. Brouwers, Carla E.M. Hollak, Mirian C.H. Janssen, Janneke G. Langendonk, Alexander J.M. Rennings, Margreet A.E.M. Wagenmakers, Henkjan J. Verkade, Terry G.J. Derks, Vincent E. de Meijer

Publikováno v: JHEP Reports, Vol 4, Iss 8, Pp 100512- (2022)

Background & Aims: Glycogen storage disease type Ia (GSDIa) is an inborn error of carbohydrate metabolism caused by pathogenic variants in the glucose-6-phosphatase catalytic subunit 1 (G6PC1) gene and is associated with hepatocellular adenoma (HCA)

Externí odkaz: https://doaj.org/article/c6cb44c1113f4e3fbd9c89e7b4f0c7d6

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Akademický článek

Development of minimally invasive 13C-glucose breath test to examine different exogenous carbohydrate sources in patients with glycogen storage disease type Ia

Autor: Abrar Turki, Sylvia Stockler, Sandra Sirrs, Ramona Salvarinova, Gloria Ho, Jennifer Branov, Annie Rosen-Heath, Taryn Bosdet, Rajavel Elango

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100880- (2022)

Background: Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive disorder caused by deficiency of glucose-6-phosphatase (G6Pase), resulting in fasting hypoglycemia. Dietary treatment with provision of uncooked cornstarch (UCCS) or a no

Externí odkaz: https://doaj.org/article/920b0e4eec9349018abe02e4bad4c684

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Akademický článek

A novel mutation in a newborn baby leading to glycogen storage disease type Ia

Autor: Dorum S, Gorukmez O

Publikováno v: Balkan Journal of Medical Genetics, Vol 21, Iss 2, Pp 55-57 (2018)

Glycogen storage disease type Ia (GSD1A) is caused by mutations in the G6PC gene. The G6PC gene was first cloned in 1993. Since then, many different mutations have been identified leading to this disease. Hepatomegaly is one of the important clinical

Externí odkaz: https://doaj.org/article/cc5266b36b1f4c97ae6af08f580a8146

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Akademický článek

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

Autor: Terry G. J. Derks, David F. Rodriguez-Buritica, Ayesha Ahmad, Foekje de Boer, María L. Couce, Sarah C. Grünert, Philippe Labrune, Nerea López Maldonado, Carolina Fischinger Moura de Souza, Rebecca Riba-Wolman, Alessandro Rossi, Heather Saavedra, Rupal Naik Gupta, Vassili Valayannopoulos, John Mitchell

Publikováno v: Nutrients, Vol 13, Iss 11, p 3828 (2021)

Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney,

Externí odkaz: https://doaj.org/article/49373e0a313c4a1bbb2b3940a73fdda6

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Akademický článek

Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report

Autor: D. Allegrini, S. Penco, A. Pece, A. Autelitano, G. Montesano, S. Paci, C. Montanari, A. Maver, B. Peterlin, G. Damante, L. Rossetti

Publikováno v: BMC Ophthalmology, Vol 17, Iss 1, Pp 1-9 (2017)

Abstract Background We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD). Case presentation A 26-year-old white woman, born at term by natu

Externí odkaz: https://doaj.org/article/4a12c0d56e4e4ff28394b5f8ccbd8e71

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