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Article

Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency.

European journal of pediatrics - 1 Jan 2000

Nuoffer J M, de Lonlay P, Costa C, Roe C R, Chamoles N, Brivet M, Saudubray J M

Abstract excerpt

UNLABELLED: A patient with a severe phenotype of carnitine-acylcarnitine translocase deficiency (CATR)(McKusick 212138) is reported. Prior to birth, a defect in beta-oxidation was suspected because of neonatal death of six siblings. Dietary treatment during neonatal adaptation and the subsequent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10653336
DOI: 10.1007/pl00013810

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10653336-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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