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Journal of Inherited Metabolic Disease
Metadata
Title
Glutaric aciduria type I: outcome following detection by newborn screening
Authors
S. Bijarnia
V. Wiley
K. Carpenter
J. Christodoulou
C. J. Ellaway
B. Wilcken
Publication date
01-08-2008
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 4/2008
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-008-0912-z

Other articles of this Issue 4/2008

Journal of Inherited Metabolic Disease 4/2008 Go to the issue

Original Article

Human carbamoyl-phosphate synthetase: Insight into N-acetylglutamate interaction and the functional effects of a common single nucleotide polymorphism

Review

Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed

Original Article

Correlates of language impairment in children with galactosaemia

Original Article

Recurrent acute liver failure and mitochondriopathy in a case of Wolcott–Rallison syndrome

Letter to the Editor

Detection of urinary hexanoylglycine in the diagnosis of MCAD deficiency from newborn screening

Original Article

Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy

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