Associated Papers
Clinical Characteristics and Bone Features of Autosomal Recessive Hypophosphatemic Rickets Type 1 in Three Chinese Families: Report of Five Chinese Cases and Review of the Literature.
Ni X et al.
Calcified Tissue International, 2020
Osteocyte regulation of phosphate homeostasis and bone mineralization underlies the pathophysiology of the heritable disorders of rickets and osteomalacia.
Feng JQ et al.
Bone, 2013
Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.
Beck-Nielsen SS et al.
Journal of Human Genetics, 2012
A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets.
Koshida R et al.
Journal of Bone and Mineral Metabolism, 2010
Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.
Turan S et al.
Bone, 2010
Novel regulators of phosphate homeostasis and bone metabolism.
Jüppner H
Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 2007
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
Lorenz-Depiereux B et al.
Nature Genetics, 2006
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