[Methylmalonic aciduria - diagnosis and therapy using as example 2 cases of this genetic metabolic disorder].
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Amino Acid Metabolism, Inborn Errors↗
Biomedical subjects
G Seidlitz
Publications and source records attributed to G Seidlitz.
[Mucopolysaccharidosis I in a pair of siblings].
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Adolescent↗
[Results and consequences of a social medical study in the region of Gera on Langdon-Down disease].
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Ambulatory Care↗
[Long-term study of uncomplicated hepatitis in children in 766 patients over a period of 5 years].
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Acute Disease↗
[Intersexual organ malformations in childhood. II. Frequency and clinical aspects, including differential diagnosis].
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Adrenal Hyperplasia, Congenital↗
[Intersexual organ abnormalities in childhood. III. Sex assignment and principles of medical treatment].
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Adrenal Hyperplasia, Congenital↗
[Infantile hepatitis--therapy and prognosis].
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Age Factors↗
[Intersexual organ malformations in childhood. I. Definition, classification, problems and diagnosis].
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Child↗
[Diagnosis of liver function in children using 131-I BSP].
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Age Factors↗
[Documentation in genetic counseling].
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Documentation↗
[Clinical symptoms of Down's syndrome and its variations].
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Child, Preschool↗
[Identification of Krabbe disease in 2 brothers from East Germany using a new fluorogenic substrate for galactocerebrosidase].
Activity of several lysosomal hydrolases was studied in skin fibroblasts obtained from two brothers living in GDR. Both patients exhibited distinct clinical symptoms of severe neurovisceral disease. Analysis of the lysosomal enzymes activity enabled to exclude possible occurrence in the patients of such glycolipidoses as Gaucher's disease, Sandhoff's disease, GM1-gangliosidosis and metachromatic leukodystrophy. A new fluorogenic galactoside of lipid nature 6-hexadecanoylamine-4-hethylumbellipheryl-beta-D-galactoside used as a substrate of galactocerebrosidase enabled to detect in the patients distinct decrease in this enzymatic activity and to diagnose Krabb's disease. Biochemical diagnosis of Krabb's disease using the fluorogenic substrate was also confirmed by analysis with labelled galactocerebroside as a substrate.
Fibroblasts↗