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Journal of Inherited Metabolic Disease
Metadata
Title
Brain phenylalanine concentration in the management of adults with phenylketonuria
Authors
R. A. Moats
R. Koch
K. Moseley
P. Guldberg
F. Guttler
R. G. Boles
M. D. Nelson Jr.
Publication date
01-02-2000
Publisher
Kluwer Academic Publishers
Published in
Journal of Inherited Metabolic Disease / Issue 1/2000
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1023/A:1005638627604

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A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD)

OriginalPaper

Pyridoxine-responsive nephrocalcinosis and glycolic aciduria in two siblings without hyperoxaluria and with normal alanine:glyoxalate aminotransferase activity

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Psychiatric symptoms of inherited metabolic disease

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Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement

OriginalPaper

Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders

OriginalPaper

Treatment of late-onset nonketotic hyperglycinaemia: Effectiveness of imipramine and benzoate

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