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

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.

Molecular genetics and metabolism - 1 May 2010

Lee Ni-Chung, Tang Nelson Leung-Sang, Chien Yin-Hsiu, Chen Chun-An, Lin Sho-Juan, Chiu Pao-Chin, Huang Ai-Chu, Hwu Wuh-Liang

Abstract excerpt

Carnitine uptake defect (CUD) is an autosomal recessive fatty acid oxidation defect caused by a deficiency of the high-affinity carnitine transporter OCTN2. CUD patients may present with hypoketotic hypoglycemia, hepatic encephalopathy or dilated cardiomyopathy. Tandem mass spectrometry screening...

Read the complete abstract on PubMed

Topics

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

Share to Carnitine
Share to False Negative Reactions
Share to Lipid Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mothers

Share to Neonatal Screening

Share to Organic Cation Transport Proteins

Share to Solute Carrier Family 22 Member 5

Share to Tandem Mass Spectrometry

Source

Identifiers

PMID: 20074989
DOI: 10.1016/j.ymgme.2009.12.015

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20074989-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.PMID 20074989Read ↗

[Clinical and genetic characteristics of primary carnitine deficiency identified by neonatal screening].Semantic proximity Read ↗

Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese PopulationSemantic proximity Read ↗

Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.Semantic proximity Read ↗

Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.Semantic proximity Read ↗

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.Semantic proximity Read ↗

Screening for newborn fatty acid oxidation disorders in Chongqing and the follow-up of confirmed children.Semantic proximity Read ↗

Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM , ACADVL and SLC22A5 Genes.Semantic proximity Read ↗

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese PopulationSemantic proximity Read ↗

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

Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screeningSemantic proximity Read ↗

Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening.Semantic proximity Read ↗

Biochemical And Genetic Characteristics of Patients With Primary Carnitine Deficiency Identified Through Newborn ScreeningSemantic proximity Read ↗

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