First Australian report of vitamin D‐dependent rickets type I

Nobuaki Ito, Alexia S Pena, Shiree Perano, Gerald J Atkins, David M Findlay, Jennifer J Couper

[1]  M. Zou,et al.  Clinical and genetic analysis of patients with vitamin D‐dependent rickets type 1A , 2012, Clinical endocrinology.

[2]  M. Zou,et al.  A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1. , 2010, The Journal of clinical endocrinology and metabolism.

[3]  Amita Sharma,et al.  Vitamin D 1α-Hydroxylase Gene Mutations in Patients with 1α-Hydroxylase Deficiency , 2007 .

[4]  S. Fukumoto,et al.  FGF23 is a hormone-regulating phosphate metabolism--unique biological characteristics of FGF23. , 2007, Bone.

[5]  A. Meloni,et al.  A novel splicing defect (IVS6+1G>T) in a patient with pseudovitamin D deficiency rickets , 2002, Journal of endocrinological investigation.

[6]  W. Miller,et al.  Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro. , 2002, The Journal of clinical endocrinology and metabolism.

[7]  S. Kato,et al.  No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation. , 1999, The Journal of clinical endocrinology and metabolism.

[8]  M. Tassabehji,et al.  Novel Mutations in the 1α‐Hydroxylase (P450c1) Gene in Three Families with Pseudovitamin D–Deficiency Rickets Resulting in Loss of Functional Enzyme Activity in Blood‐Derived Macrophages , 1999, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[9]  T. Saruta,et al.  Two novel 1α-hydroxylase mutations in French-Canadians with vitamin D dependency rickets type I , 1998 .

[10]  M. Labuda,et al.  Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. , 1998, American journal of human genetics.