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Journal of Inherited Metabolic Disease
Metadata
Title
High plasma leucine concentrations without neurological symptoms in a patient with classical maple syrup urine disease
Authors
D. Skladal
G. Grissenauer
V. Konstantopoulou
S. Felker
W. Sperl
Publication date
01-11-2000
Publisher
Kluwer Academic Publishers
Published in
Journal of Inherited Metabolic Disease / Issue 7/2000
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1023/A:1005600930139

Other articles of this Issue 7/2000

Journal of Inherited Metabolic Disease 7/2000 Go to the issue

ReviewPaper

Quantitative measurement of total and free 3-hydroxy fatty acids in serum or plasma samples: short-chain 3-hydroxy fatty acids are not esterified

ReviewPaper

A serine/alanine polymorphism in the nucleotide-binding fold-2 of the sulphonylurea receptor-1 (S1369A) is associated with enhanced glucose-induced insulin secretion during pregnancy

ReviewPaper

A new case of 2-methylacetoacetyl-CoA thiolase deficiency?

ReviewPaper

Differentiation of hair growth cycle from scalp hair roots for the diagnosis of glucose-6-phosphate dehydrogenase deficiency in neonates

ReviewPaper

Effects of ethanol and of alcohol dehydrogenase inhibitors on the reduction of N-acetylaspartate levels of brain in mice in vivo: a search for substances that may have therapeutic value in the treatment of Canavan disease

ReviewPaper

Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia

ACC 2024 Congress Coverage

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