Results 11 to 20 of about 6,242,042 (194)

Hepatic Glycogen Storage Diseases

Journal of Inborn Errors of Metabolism and Screening, 2017
The third international meeting of the Scandinavian Association for Glycogen Storage Disease focused on hepatic glycogen storage disease and was organized for health-care professionals, patient representatives, and representatives from the industry. This
Terry G. J. Derks MD, PhD, Antal Nemeth MD, PhD, Katrin Adrian MD, PhD, Henrik Arnell MD, PhD, Ann Bech Roskjær RD, Eva Beijer MD, Sebastiaan te Boekhorst BICT, Carina Heidenborg RD, Marcus Landgren MD ,PhD, Mikael Nilsson RD, Domniki Papadopoulou MD, Katalin Ross RD, Elisabeth Sjöqvist RD, U Stachelhaus-Theimer MD, Ulrike Steuerwald MD, Carl-Johan Törnhage MD, PhD, David A. Weinstein MD, PhD   +16 more
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Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report

Journal of Medical Case Reports, 2017
Background Glycogen storage disease type Ia is a genetic disorder that is associated with persistent fasting hypoglycemia and the inability to produce endogenous glucose. The development of diabetes with glycogen storage disease is exceedingly rare.
Aviva Cohn, Anupam Ohri
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Current Clinical Guidelines for the Management of Patients with Glycogen Storage Disease

Педиатрическая фармакология
Glycogen storage disease refers to hereditary pathologies of carbohydrate metabolism, its cause is mutations of various genes encoding enzymes responsible for the synthesis and breakdown of glycogen.
Natalia A. Averkina, Madlena E. Bagaeva, Aleksander A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Nataliya V. Zhurkova, Elena V. Kaitukova, Elena V. Komarova, Tea V. Margieva, Leyla S. Namazova-Baranova, Valeria P. Novikova, Elena E. Petryaykina, Mariya M. Platonova, Aleksander S. Potapov, Olga Ya. Smirnova, Tatiana V. Strokova, Andrey N. Surkov, Nataliya N. Taran, Marina V. Fedoseenko, Nataliya A. Semenova, Inga V. Anisimova, Svetlana A. Repina, Dmitriy M. Subbotin, Valeria V. Sviridova, Anatoliy I. Havkin, Ekaterina A. Yablokova, Galina V. Volynets, Irina V. Sadovnikova, Elena L. Tumanova   +29 more
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Management of Children with Glycogen Storage Disease (Liver Involvement Forms). Best Practice Guidelines [PDF]

Педиатрическая фармакология, 2020
Glycogen storage disease is the hereditary carbohydrate metabolism pathology which is caused by mutations in various genes encoding enzymes responsible for glycogenesis and glycogenolysis. Excessive glycogen deposition in various tissues cells (mostly in
Alexander A. Baranov, Leyla S. Namazova-Baranova, Andrey N. Surkov, Olga S. Gundobina, Elena A. Vishneva, Tea V. Margieva, Nato D. Vashakmadze, Liliya R. Selimzyanova   +7 more
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History of glycogen storage disease type Ⅱ

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Glycogen storage disease type Ⅱ (GSD Ⅱ), which is also called Pompe disease, is an autosomal recessive hereditary metabolic disease resulting from mutations of acid α-glucosidase (GAA).
Cheng ZHANG, Liang WANG
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Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group [PDF]

, 2021
Supplementary material is available online at https://www.sciencedirect.com/science/article/pii/S0960896621006878#sec0054 .Highlights: • Management of physical activity intolerance in GSD V and GSD VII is nuanced and impacts activities of daily living (
Løkken, N, Nogales-Gadea, G, Martinuzzi, A, Godfrey, R, Santalla, A, Toscano, A, Lucia, A, Tarnopolsky, M, Reason, S, Kishnani, P, Quinlivan, R, Musumeci, O, Bali, D, Laforêt, P, Haller, R, Voermans, N, Vissing, J, Wakelin, A   +17 more
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Glycogen storage diseases [PDF]

Acta Diabetologica Latina, 1969
The pathways of glycogen synthesis and degradation have been reviewed in relation to the glycogen storage diseases. Six types of glycogen storage diseases have been classified on the basis of the enzymatic defect which is present. The clinical features, physical findings and laboratory abnormalities present in each type have been discussed and related ...
openaire   +4 more sources

Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease. [PDF]

PLoS ONE, 2013
Pompe disease, also known as glycogen storage disease (GSD) type II, is caused by deficiency of lysosomal acid α-glucosidase (GAA). The resulting glycogen accumulation causes a spectrum of disease severity ranging from a rapidly progressive course that ...
Kristin M Taylor, Elizabeth Meyers, Michael Phipps, Priya S Kishnani, Seng H Cheng, Ronald K Scheule, Rodney J Moreland   +6 more
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Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Ward, N.J., Buckley, S.M.K., Ward, NJ, Chan, J.K.Y., Waddington, S.N., Rahim, A.A., Waddington, SN, Rahim, AA, Chan, JK, Mckay, T.R., Howe, S.J., Howe, SJ, McKay, TR, Natalie J. Ward, Ahad A. Rahim, Steven J. Howe, Jerry K.Y.Chan, Suzanne M.K. Buckley, Simon N. Waddington, Tristan R. McKay   +20 more
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Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia

Molecular Genetics and Metabolism Reports, 2022
Although inflammatory bowel disease is a well-described feature of glycogen storage disease type Ib, it has been reported in only a small number of individuals with glycogen storage disease type Ia (GSDIa).
William B. Hannah, Ricardo C. Ong, Margarita Nieto Moreno, Surekha Pendyal, Monica Abdelmalak, Judith Kelsen, Nancy M. McGreal, Priya S. Kishnani   +7 more
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