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

Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population.

Archives of Iranian medicine - 1 Nov 2016

Asgari Arezou, Rouhi Dehnabeh Soghra, Zargari Mehryar, Khani Soghra, Mozafari Hadi, Varasteh Abdolreza, Keyfi Fatemeh, Barzegari Mina, Hasanzaeh Rayhaneh, Khatami Shohreh

Abstract excerpt

BACKGROUND: Biotinidase deficiency (BTD) is an autosomal recessive disorder of biotin metabolism. Biotin is a coenzyme that enhances the action of the four enzymes that play an important role in carbohydrates, amino acid, and fatty acid metabolism. Defects in these pathways cause severe metabolic disorder in the body. In general, biotinidase deficiency can be classified into two levels: partial and profound. The...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Mutation

Share to Polymerase Chain Reaction

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 27845546

Genes

BTD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population.PMID 27845546Read ↗

Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye.Semantic proximity Read ↗

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

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

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

Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience.Semantic proximity Read ↗

Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey.Semantic proximity Read ↗

Single center experience of biotinidase deficiency: 259 patients and six novel mutations.Semantic proximity Read ↗

Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.Semantic proximity Read ↗

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

Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.Semantic proximity Read ↗

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