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Article

Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Jan 2021

Ercan Mujgan, Akbulut Emiş Deniz, Oz Ozlem, Ataş Nurgul, Karaca Meryem, Yılmaz Fatma Meriç

Abstract excerpt

OBJECTIVES: Biotinidase Deficiency (BD) is an autosomal recessive metabolic disorder. However, the relationship between genotype and biochemical phenotype has not been completely elucidated yet. But still, some mutations are accepted to be associated with profound or partial deficiency. We aimed to evaluate the results of biochemical enzyme activity in accordance with the presence of genetic mutations and...

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Identifiers

PMID: 33189081
DOI: 10.1515/jpem-2020-0382

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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