Results 291 to 300 of about 556,889 (346)

Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand.

open access: yesWorld J Clin Pediatr
Vanduangden J   +6 more
europepmc   +1 more source

Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China. [PDF]

open access: yesOrphanet J Rare Dis
Zhang X   +19 more
europepmc   +1 more source

Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib.

open access: yesJAMA Netw Open
Xia Y   +10 more
europepmc   +1 more source

Dapagliflozin ameliorates Lafora disease phenotype in a zebrafish model.

open access: yesBiomed Pharmacother
Della Vecchia S   +8 more
europepmc   +1 more source
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Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I)

European Journal of Pediatrics, 2002
Life-expectancy in glycogen storage disease type I (GSD I) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment.
Jan Peter Rake Æ Gepke Visser Æ Philippe Labrune James V. Leonard Æ Kurt Ullrich Æ G. Peter A. Smit   +41 more
openaire   +5 more sources

Renal Disease in Type I Glycogen Storage Disease

New England Journal of Medicine, 1988
Although kidney enlargement occurs in Type I glycogen storage disease, renal disease has not been considered a major problem. Death from renal failure in three patients known to us prompted a study of renal function in this disorder. Of the 38 patients with Type I glycogen storage disease under our care, the 18 children under 10 years old had normal ...
P. C. Kolbeck   +4 more
openaire   +3 more sources

Pulmonary hypertension in glycogen storage disease type I [PDF]

open access: possibleJournal of Inherited Metabolic Disease, 1996
Glycogen storage disease type I (GSD I) is caused by a deficiency in one of the components of the glucose-6-phosphatase (G-6-Pase) system. Most patients have deficient G-6-Pase activity (GSD Ia) or deficient G-6-Pase translocase activity (GSD Ib). Both of these disorders result in hypoglycaemia, hepatomegaly, lactic acidaemia, hyperlipidaemia and ...
Yuan-Tsong Chen   +2 more
openaire   +2 more sources

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