Partial biotinidase deficiency: Identification of a single novel mutation (p.H314R) in a Greek newborn

Citation:

Thodi G, Schulpis KH, Hatzidaki M, Molou E, Triantafylli O, Dotsikas Y, Loukas YL. Partial biotinidase deficiency: Identification of a single novel mutation (p.H314R) in a Greek newborn. Journal of Pediatric Endocrinology and Metabolism [Internet]. 2016;29:389-390.

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