Trial reportJournal of inherited metabolic disease2000
Novel mutations cause biotinidase deficiency in Turkish children.
Trial report in Journal of inherited metabolic disease, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Guideline
- Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.Journal of inherited metabolic disease · 2000Trial
- Genomic and Structural Investigation of Mutations in Biotinidase (BTD) Gene Deficiency in Greater Middle Eastern Cohort: Insights from Molecular Dynamics Study.Biomedicines · 2025Article
- A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.Journal of pediatric genetics · 2023Review
- Article
- Developmental and behavioral outcomes of preschool-aged children with biotinidase deficiency identified by newborn screening.European journal of pediatrics · 2021Article
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.Molecular genetics and metabolism reports · 2020Article
- Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.Journal of personalized medicine · 2020Article
- Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.European journal of human genetics : EJHG · 2016Article
- Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.European journal of pediatrics · 2015Article
- Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.Genetic testing and molecular biomarkers · 2012Article
- Profound biotinidase deficiency: a rare disease among native Swedes.Journal of inherited metabolic disease · 2010Article
- High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.Journal of inherited metabolic disease · 2010Article
- Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases.Journal of inherited metabolic disease · 2005Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
Mutation analysis was performed on DNA from 31 Turkish children with profound biotinidase deficiency who were symptomatic or ascertained by newborn screening. The 98G:del7ins3 mutation is common in clinically ascertained children in both the United States and Turkish populations, but a unique common mutation, R79C, is found only in the Turkish children identified both clinically and by newborn screening. Another frequently occurring mutation, T532M, is only observed in the Turkish newborn screening group. There are four other less frequent novel mutations identified in the Turkish population. Interestingly, the Q456H and the A171T:D444H double mutation, which are the most common mutations found in the US newborn screening population and have not been observed in symptomatic children, do occur in clinically ascertained children in the Turkish population, although the double mutation may be associated with milder and/or later-onset symptoms.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.