Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jul 2018

Fan X, Xie B B, Zhang Q, Yi S, Geng G X, Yang Q, Luo J S, Wang J, Li C, Chen S K, Shen Y P

Abstract excerpt

Objective: To investigate the clinical, biochemical and genetic features of four carnitine-acylcarnitine translocase deficiency cases. Methods: Four cases diagnosed with carnitine-acylcarnitine translocase deficiency from Guangxi Maternal and Child Health Hospital were studied. DNA was extracted from dry blood filter for gene analysis. SLC25A20 gene analysis was performed in 1 case and the whole exon sequence...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Carnitine
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Founder Effect

Share to Infant

Share to Infant, Newborn

Share to Lipid Metabolism, Inborn Errors

Share to Membrane Transport Proteins

Share to Mutation

Source

Identifiers

PMID: 29996190
DOI: 10.3760/cma.j.issn.0578-1310.2018.07.014

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G].PMID 29996190Read ↗

Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review.Semantic proximity Read ↗

[Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene].Semantic proximity Read ↗

Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report.Semantic proximity Read ↗

Neonatal sudden death caused by a novel heterozygous mutation in SLC25A20 gene: A case report and brief literature review.Semantic proximity Read ↗

[Newborn screening for primary carnitine deficiency and variant spectrum of SLC22A5 gene in Guangzhou].Semantic proximity Read ↗

[Clinical features and gene mutations of 6 patients with carnitine palmitoyltransferase 1A deficiency].Semantic proximity Read ↗

Analysis of genetic mutation distribution and metabolic characteristics in patients with primary carnitine deficiency from the Ganzhou area, China.Semantic proximity Read ↗

Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.Semantic proximity Read ↗

[Analysis of metabolic profile and genetic variants for newborns with primary carnitine deficiency from Guangxi].Semantic proximity Read ↗

Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency.Semantic proximity Read ↗

Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China：A case report and literature reviewSemantic proximity Read ↗

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.