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Article

Genetic diagnosis of one family with incomplete clinical data.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2013

Xu Shiyan, Bhajoo Sirsingh H, Jiang Weiying

Abstract excerpt

A 6-day-old female patient suddenly died of congestive heart failure, hepatomegaly and hypoglycemic encephalopathy. Tandem mass spectrometry (MS) analysis revealed a possibility of carnitine deficiency. However, many of the clinical symptoms had not yet occurred at that time, and the clinical dat...

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Topics

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Share to Amino Acid Metabolism, Inborn Errors
Share to Carnitine
Share to Chromosomes, Human, Pair 6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Fatal Outcome

Share to Methylmalonyl-CoA Mutase

Share to Mutagenesis, Insertional

Share to Parents

Source

Identifiers

PMID: 23729607
DOI: 10.1515/jpem-2013-0032

Genes

CPT2
GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23729607-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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