Results 101 to 110 of about 3,882 (211)
Glycogenosis type II : a study on clinical heterogeneity and enzyme replacement therapy [PDF]
, 1989 Glycogenosis type II is a lysosomal storage disorder caused by deficiency of acid a-glucosidase and characterized by heart failure and skeletal muscle weakness.
Ploeg, A.T. (Ans) van der
core
Sleep breathing disorders and nocturnal respiratory pattern in patients with glycogenosis type II.
, 2014 Patients affected by glycogenosis type II frequently present sleep disordered breathing. The presence of symptoms suggestive of sleep breathing disorders was investigated, by a questionnaire, in 10 patients, affected by adult or juvenile forms of ...
POLITANO, Luisa +2 more
core
, 1985 Glycogenosis type II is an inherited lysosomal storage disease with acid alpha-glucosidase deficiency as the primary defect. Using cultured skin fibroblasts, we have studied the biosynthesis of acid alpha-glucosidase in clinically different forms of this
Oude Elferink, R. P. +3 more
core
, 1984 The biochemical and morphological properties of cultured skeletal muscle from calves born into a herd of cattle, which are heterozygous for glycogenosis type II, were studied over 17 days. Muscle was cultured by a modification of the explant technique in
Dorling, P.R. +2 more
core
Mauriac Syndrome: Growth and Clinical Outcomes After 2.5 Years of Automated Insulin Delivery Treatment. [PDF]
JCEM Case RepAlarab H, Merjaneh L, Eitel KB.
europepmc +1 more source
Precision Therapeutics Through Bioactive Compounds: Metabolic Reprogramming, Omics Integration, and Drug Repurposing Strategies. [PDF]
Int J Mol SciCostanzo M, Roviello GN.
europepmc +1 more source
Visual affectation in patients with glycogen storage disease (Glycogenosis)
In this project we wanted to comprise the visual affectations of a rare/minority disease. Based on the little research there is in this field and the large effect that this may actually have in the visual sistem.
Travé Huarte, Sònia
core
, 2014 An inherited disease of cattle, characterized by lysosomal storage of glycogen in several tissues, is reported. The disease was diagnosed in a Brahman herd in the municipality of Porto Lucena, Rio Grande do Sul, Brazil.
Dutra, V. +7 more
core
Hepatic Glycogenosis Resulting in Hyperammonemia in a Young Adult With Type 1 Diabetes Mellitus. [PDF]
JCEM Case RepDinh CB, Ghaben AL, Newfield RS.
europepmc +1 more source
Bradycardia in a Case of Type 2 Glycogenosis (pompes Disease) Revealing in Early Neonatal-period
, 1990 A case of type Ila glycogenosis presenting in early neonatal period is described. An unusual bradycardia and slow recovery from acute fetal distress were the leading signs.
Jauniaux, E. +8 more
core