A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism

CA Brownstein, F Adler… - Proceedings of the …, 2008 - National Acad Sciences
Phosphate homeostasis is central to diverse physiologic processes including energy
homeostasis, formation of lipid bilayers, and bone formation. Reduced phosphate levels due …

Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets

S Ichikawa, EA Traxler, SA Estwick, LR Curry… - Bone, 2008 - Elsevier
X-linked hypophosphatemic rickets (XLH) is a dominantly inherited disorder characterized
by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone …

Metabolic control and growth during exclusive growth hormone treatment in X-linked hypophosphatemic rickets

O Mäkitie, S Toiviainen-Salo, E Marttinen, I Kaitila… - Hormone …, 2008 - karger.com
Background: GH may improve phosphate balance and height in X-linked hypophosphatemic
rickets (XLH). This study evaluated the impact of exclusive rhGH therapy on phosphate …

Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene

P Makras, NAT Hamdy, SG Kant… - The Journal of Clinical …, 2008 - academic.oup.com
Context: X-linked hypophosphatemic rickets (XLH) is characterized by hypophosphatemia
and growth retardation. Early diagnosis and treatment improve growth. Objective: Our …

Sporadic adult-onset hypophosphatemic osteomalacia caused by excessive action of fibroblast growth factor 23

C Hoshino, N Satoh, S Sugawara, C Kuriyama… - Internal …, 2008 - jstage.jst.go.jp
A 50-year-old man without family history of metabolic bone disease was referred to our
hospital with a 5-year history of progressively worsening spinal and bilateral diffuse leg pain …

[PDF][PDF] II I tacic n

C Soares, J Barreiro - researchgate.net
Presentamos el caso clfnico de Antecedentes notan marcha insegura con ten una paciente
con c1fnica y radiolo Producto de una 2a gestaci6n, dencia a caerse y, adernas, defor gfa …

[引用][C] 抗维生素D 佝偻病PHEX 基因突变分析

王静, 金春莲, 任梅宏, 林长坤, 武盈玉, 孙开来 - 国际遗传学杂志, 2008