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Journal of Inherited Metabolic Disease
Metadata
Title
Subject Index to Volume 27
Publication date
01-11-2004
Publisher
Kluwer Academic Publishers
Published in
Journal of Inherited Metabolic Disease / Issue 6/2004
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1023/B:BOLI.0000045845.16899.e7

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S-Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency

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Assessing the severity of the small inframe deletion mutation in the α-subunit of β-hexosaminidase A found in the Turkish population by reproducing it in the more stable β-subunit

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NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic

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