Article

The global prevalence and genetic spectrum of primary carnitine deficiency

2024-07-01

Abstract excerpt

<title>Abstract</title> <p>Background Primary carnitine deficiency (PCD) is an autosomal recessive rare disorder of carnitine cycle and carnitine transport caused by mutations in the <italic>SLC22A5</italic> gene. The prevalence of PCD is unclear. This study aimed to estimate the carrier frequency and genetic prevalence of PCD using Genome Aggregation Database (gnomAD) data. Methods The pathogenicity of <italic...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4718dac3-f050-5fa4-b483-222133758f9f
DOI: 10.21203/rs.3.rs-4512348/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The global prevalence and genetic spectrum of primary carnitine deficiencyDOI 10.21203/rs.3.rs-4512348/v1Read

The global prevalence and genetic spectrum of primary carnitine deficiencySemantic proximity Read

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

Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis.Semantic proximity Read

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

Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screeningSemantic 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 genetic characteristics of primary carnitine deficiency identified by neonatal screening].Semantic proximity Read

From Genotype to Phenotype: Investigating SLC22A5 Variants and Their Significance in Carnitine Deficiency: A Systematic Review Study.Semantic proximity Read

Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, ChinaSemantic proximity Read

Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency.Semantic proximity Read

[Genetics and pedigree analysis of primary carnitine deficiency cardiomyopathy in 6 cases].Semantic proximity Read

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