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Article

High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Clinica chimica acta; international journal of clinical chemistry - 2 May 2010

Er Tze-Kiong, Liang Wen-Chen, Chang Jan-Gowth, Jong Yuh-Jyh

Abstract excerpt

BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD) or gluaric aciduria type II is an autosomal recessive disease caused by defects in mitochondrial electron transfer system and metabolism of fatty acid. Recently, ETFDH mutations were reported to be major causes of riboflavin-responsive...

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Source

Identifiers

PMID: 20138856
DOI: 10.1016/j.cca.2010.01.033

Genes

ETFDH
MADD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20138856-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.PMID 20138856Read ↗

Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.Semantic proximity Read ↗

Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif.Semantic proximity Read ↗

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Glucose-6-phosphate dehydrogenase (G6PD) gene mutations detection by improved high-resolution DNA melting assay.Semantic proximity Read ↗

Is high resolution melting analysis (HRMA) accurate for detection of human disease-associated mutations? A meta analysis.Semantic proximity Read ↗

Simple and efficient screening of patients with Fabry disease with high resolution melting.Semantic proximity Read ↗

Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency.Semantic proximity Read ↗

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Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.Semantic proximity Read ↗

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