Inactivating Mutations in the 25-Hydroxyvitamin D 3 1α-Hydroxylase Gene in Patients with Pseudovitamin D–Deficiency Rickets
1998; Massachusetts Medical Society; Volume: 338; Issue: 10 Linguagem: Inglês
10.1056/nejm199803053381004
ISSN1533-4406
AutoresSachiko Kitanaka, Ken‐ichi Takeyama, Akiko Murayama, Takashi Sato, Katsuzumi Okumura, Masahiro Nogami, Yukihiro Hasegawa, Hiroo Niimi, Junn Yanagisawa, Toshiaki Tanaka, Shigeaki Kato,
Tópico(s)Growth Hormone and Insulin-like Growth Factors
ResumoPseudovitamin D–deficiency rickets is characterized by the early onset of rickets with hypocalcemia and is thought to be caused by a deficit in renal 25-hydroxyvitamin D3 1α-hydroxylase, the key enzyme for the synthesis of 1α,25-dihydroxyvitamin D3.
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