Neonatal screening for biotinidase deficiency: A 30-year single center experience
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference24 articles.
1. Disorders of biotin metabolism;Wolf B,2001
2. Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency;Wolf;J. Pediatr.,2002
3. Deficient biotinidase activity in late-onset multiple carboxylase deficiency;Wolf;N. Engl. J. Med.,1983
4. A screening method for biotinidase deficiency in newborns;Heard;Clin. Chem.,1984
5. Neonatal screening for biotinidase deficiency: results of a 1-year pilot study;Heard;J. Pediatr.,1986
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1. Diagnosis and Treatment of Newborns Referred to the Metabolism Department From the National Newborn Screening Program in Türkiye: A 5-Year Single-Center Experience;Turkish Journal of Pediatric Disease;2024-04-15
2. Accurate determination of Biotinidase activity in serum by HPLC and its utilization as second tier test for the confirmation of initial positive newborn screening results;Molecular Genetics and Metabolism Reports;2024-03
3. Evaluation of newborn screening for biotinidase deficiency from southeastern region of Türkiye;Trends in Pediatrics;2023
4. Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience;International Journal of Neonatal Screening;2022-08-09
5. High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy;International Journal of Environmental Research and Public Health;2022-07-02
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