Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference12 articles.
1. Disorders of biotin metabolism;Wolf,2001
2. Biotinidase deficiency and the eye and ear;Taitz;Lancet,1983
3. Hearing loss in biotinidase deficiency;Wolf;Lancet,1983
4. Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis;Pomponio;Pediatr Res,1997
5. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency;Wolf;Clin Chim Acta,1983
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1. Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies;Biomedicines;2024-06-27
2. Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency;European Journal of Pediatrics;2023-12-23
3. Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking;International Journal of Molecular Sciences;2023-06-16
4. Overview on Pathophysiology, Diagnosis, and Management of Biotinidase Deficiency in Pediatrics;Archives of Pharmacy Practice;2023
5. A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype–Phenotype Analysis;Journal of Pediatric Genetics;2022-11-01
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