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

Clinico-Pathological and Molecular Spectrum of Biotinidase Deficiency- Experience from a Lower Middle-Income Country.

Clinical laboratory - 1 Jun 2021

Ahmed Sibtain, Ni Min, DeBerardinis Ralph J, Habib Anasufiza, Akbar Fizza, Afroze Bushra

Abstract excerpt

BACKGROUND: The aim of this study was to evaluate the clinical, biochemical, and molecular analysis of Pakistani patients with biotinidase deficiency (BD). METHODS: Medical charts, urine organic acid (UOA) chromatograms, and biotinidase (BTD) enzyme activity of 113 suspected BD cases and BTD gene results of BTD enzyme deficient patients presenting at the Biochemical Genetics Clinic, AKUH from January 2010 to...

Read the complete abstract on PubMed

Topics

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

Share to Homozygote
Share to Infant, Newborn

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

Share to Mutation

Share to Neonatal Screening

Share to Poverty

Source

Identifiers

PMID: 34107619
DOI: 10.7754/Clin.Lab.2020.200937

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

Clinico-Pathological and Molecular Spectrum of Biotinidase Deficiency- Experience from a Lower Middle-Income Country.PMID 34107619Read ↗

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

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

Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin.Semantic proximity Read ↗

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

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

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

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

Biallelic loss-of-function variations in BTD cause profound biotinidase deficiency in an Indian patientSemantic proximity Read ↗

Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.Semantic proximity Read ↗

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

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

Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.Semantic proximity Read ↗

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