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

Biotinidase deficiency and our champagne legacy.

Gene - 10 Sept 2016

Wolf Barry

Abstract excerpt

Biotinidase is the enzyme that is necessary for the recycling of the vitamin, biotin. Biotinidase deficiency is an autosomal recessively inherited metabolic disorder. If untreated, individuals with biotinidase deficiency usually develop neurological and cutaneous symptoms that can result in coma or death. Symptomatic individuals can be markedly improved by treating them with pharmacological doses of biotin;...

Read the complete abstract on PubMed

Topics

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

Share to Biotin
Share to Gene Expression
Share to History, 20th Century

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to History, 21st Century

Share to Infant, Newborn

Share to Neonatal Screening

Share to Translational Research, Biomedical

Share to United States

Source

Identifiers

PMID: 26456103
DOI: 10.1016/j.gene.2015.10.010

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

Biotinidase deficiency and our champagne legacy.PMID 26456103Read ↗

Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".Semantic proximity Read ↗

A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype–Phenotype AnalysisSemantic proximity Read ↗

Biotinidase Deficiency: The First Reported Case from NepalSemantic proximity Read ↗

Technical standards and guidelines for the diagnosis of biotinidase deficiency.Semantic proximity Read ↗

Mutations in BTD gene causing biotinidase deficiency: a regional report.Semantic proximity Read ↗

Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).Semantic proximity Read ↗

Clinical, biochemical and genotypical characteristics in biotinidase deficiency.Semantic proximity Read ↗

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.Semantic proximity Read ↗

Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population.Semantic proximity Read ↗

Biotinidase deficiency characterized by skin and hair findings.Semantic proximity Read ↗

Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.Semantic proximity Read ↗

Forty-eight novel mutations causing biotinidase deficiency.Semantic proximity Read ↗

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