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Journal of Inherited Metabolic Disease
Metadata
Title
A new case of 2-methylacetoacetyl-CoA thiolase deficiency?
Authors
G. Renom
M. Fontaine
M. O. Rolland
J. Duprey
P. M. Degand
D. Dobbelaere
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:1005655619236

Other articles of this Issue 7/2000

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

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

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

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Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion

ReviewPaper

Microphotometric analysis of NADH-tetrazolium reductase deficiency in fibroblasts of patients with Leber hereditary optic neuropathy

ReviewPaper

Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia

ReviewPaper

Hyperketonaemia in glycerol kinase deficiency

ACC 2024 Congress Coverage

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Year in Review: Heart failure and cardiomyopathies

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Watch this official video from ACC.24 to hear Dr. Biykem Bozkurt discuss last year's major advances in heart failure and cardiomyopathies.

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New intervention for STEMI-related cardiogenic shock

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