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

Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil.

Journal of medical screening - 1 Sept 2020

Carvalho Nara de Oliveira, Januário José Nélio, Felix Gilsimary Lessa Pereira, Nolasco Daniela Magalhães, Ladeira Roberto Vagner Puglia, Del Castillo Dora Mendes, Starling Ana Lúcia Pimenta, Norton Rocksane de Carvalho, Viana Marcos Borato

Abstract excerpt

OBJECTIVE: The prevalence of biotinidase deficiency and the frequency of biotinidase gene variants in Brazil are not documented. We aimed to determine the incidence of partial and profound biotinidase deficiency in the state of Minas Gerais, Brazil, and to calculate the frequency of biotinidase gene variants in the newborn screening program of Minas Gerais. METHODS: Neonates (1,168,385) were screened from May...

Read the complete abstract on PubMed

Topics

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

Share to Brazil
Share to Gene Frequency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Incidence

Share to Infant, Newborn

Share to Mutation

Share to Neonatal Screening

Source

Identifiers

PMID: 31801038
DOI: 10.1177/0969141319892298

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

Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil.PMID 31801038Read ↗

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 ↗

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

Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies.Semantic proximity Read ↗

High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.Semantic proximity Read ↗

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

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 ↗

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

A Different Approach to the Evaluation of the Genotype-Phenotype Relationship in Biotinidase Deficiency: Repeated Measurement of Biotinidase Enzyme ActivitySemantic proximity Read ↗

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