منابع مشابه
Lysosomes in Type Ii Glycogenosis
Short papers submitted expressly for this section, reporting original and significant findings of immediate interest and judged to be acceptable without major revision, will be published within approximately three months. See inside back cover for details. Type II glycogenosis is a fatal disease of infants (1) characterized by increased concentration of tissue glycogen and deficient activity of...
متن کاملUncooked cornstarch--efficacy in type I glycogenosis.
Uncooked cornstarch (UCCS) loads in 14 patients with type 1 glycogenosis revealed that satisfactory glycaemia was achieved for a median of 4.25 hours (range 2.5 to 6). Length of glycaemia was related weakly to UCCS dose, but not to patient age or measures of metabolic control. Careful monitoring is required during UCCS treatment.
متن کاملType III glycogenosis presenting as liver disease in adults with atypical histological features.
Two cases of type III glycogen storage disease are reported in adults; the occurrence of cirrhosis in one case illustrates the potential development of chronic liver disease in this condition. The other was the oldest patient with this condition found in a review of published reports. Electron microscopy of peripheral blood leucocytes to demonstrate excess glycogen was found to be a quick and u...
متن کاملGlycogenosis type II (acid maltase deficiency).
Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal alpha-glucosidase resulting in lysosomal accumulation of glycogen. The disease is inherited as an autosomal recessive trait and is clinically heterogeneous. Early and late onset phenotypes are distinguished. Insight in the molecular nature of the lysoso...
متن کاملGeneralized glycogenosis type II (Pompe's disease).
Nihill, M. R., Wilson, D. S., and Hugh-Jones, K. (1970). Archives of Disease in Childhood, 45, 122. Generalized glycogenosis type II (Pompe's disease). The characteristic clinical features of 2 cases of Pompe's disease are presented, namely, signs of a cardiomyopathy with skeletal hypotonia and a characteristic ECG with a short PR interval and high voltage QRS complexes. Glycogen storage diseas...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1990
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-4-5-3