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Journal of Inherited Metabolic Disease
Metadata
Title
Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies
Authors
N. J. Manning
S. E. Olpin
R. J. Pollitt
M. Downing
A. F. Heeley
I. D. Young
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:1005667906032

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Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants

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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

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