Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study
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چکیده
منابع مشابه
Ocular ultrastructural study in a fetus with type II glycogenosis.
The general pathological and ocular studies in an aborted fetus with type II glycogenosis revealed the widespread lysosomal storage of glycogen. Obvious lesions are observed in the viscera, in the skeletal and ocular muscles, and in all ocular tissues except the pigment epithelium of the retina. Brain and heart are relatively spared. Conjunctival and skin biopsies have a diagnostic importance, ...
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...
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Type IV glycogen storage disease is caused by a deficiency of the branching enzyme, oc-1,4-glucan: ox-1,4-glucan 6-glucosyltransferase, EC 2.4.1.18 (Brown and Brown, 1966); and is characterized by the accumulation in liver, spleen, and other organs of glycogen with an abnormal structure. This glycogen has long outer chains, relatively few branch points, and gives a blue colour with iodine. It t...
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...
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ژورنال
عنوان ژورنال: European Journal of Pediatrics
سال: 2014
ISSN: 0340-6199,1432-1076
DOI: 10.1007/s00431-013-2258-2