منابع مشابه
Uncooked 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 کاملLysosomes 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 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 کاملPompe's disease or type IIa glycogenosis.
This is the report of a five-month-old child presenting clinical evidence of Pompe's disease: severe hypotonicity, hyporeflexia and congestive heart failure. The ECG showed a short PR interval, the chest radiography disclosed marked cardiomegaly, and the echocardiogram revealed marked left ventricular hypertrophy - the most typical finding of this disease. A skeletal muscle biopsy led to final ...
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ژورنال
عنوان ژورنال: Jornal de Pediatria
سال: 1999
ISSN: 0021-7557
DOI: 10.2223/jped.313