Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency
Begüm Bahar Yılmaz, Ahmet Cevdet Ceylan, Mehmet Gündüz, Özlem Ünal Uzun, Aynur Küçükçongar Yavaş, Berrak Bilginer Gürbüz, Ümmühan Öncül, Gülay Güleç Ceylan, Çiğdem Seher Kasapkara
Topics & Concepts
Biotinidase deficiencyMedicineNewborn screeningGenotypeInternal medicinePediatricsGastroenterologyGeneGeneticsBiologyBiotin and Related StudiesCellular transport and secretionClick Chemistry and Applications