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Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome

✍ Scribed by M. T. García Silva; J. de Castro; H. Stibler; R. Simón; A. Chasco Yrigoyen; F. Mateos; I. Ferrer; S. Madero; J. M. Velasco; F. Guttierrez-Larraya


Publisher
Springer
Year
1996
Tongue
English
Weight
222 KB
Volume
19
Category
Article
ISSN
0141-8955

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The carbohydrate-deficient glycoprotein syndromes are a group of recently described autosomal recessive, metabolic defects affecting multiple systems. The disorder is caused by inefficient posttranslational glycosylation of glycoproteins. Patients with the syndrome present early in life with psychom