المؤلفون: Tankeu, A.T., Van Winckel, G., Elmers, J., Jaccard, E., Superti-Furga, A., Wolf, B., Tran, C.

المصدر: Molecular genetics and metabolism, vol. 138, no. 4, pp. 107560

مصطلحات موضوعية: Endocrinology, Infant, Infant, Newborn, Adult, Child, Preschool, Humans, Biotinidase Deficiency/diagnosis, Biotinidase Deficiency/genetics, Biotin/therapeutic use, Biotinidase/genetics, Biotinidase/metabolism, Neonatal Screening, Databases, Factual, Biotin, Biotinidase, Biotinidase deficiency, Newborn screening, Outcomes, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::074b4603602a2fd57f8a8d187ca20add
https://doi.org/10.1016/j.ymgme.2023.107560