[HTML][HTML] Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
D Haffner, F Emma, DM Eastwood… - Nature Reviews …, 2019 - nature.com
X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate
wasting and is associated with severe complications such as rickets, lower limb deformities …
wasting and is associated with severe complications such as rickets, lower limb deformities …
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
C Zhang, Z Zhao, Y Sun, L Xu, R JiaJue, L Cui, Q Pang… - Bone, 2019 - Elsevier
X-linked Hypophosphatemia (XLH) is caused by loss of function mutations in the PHEX
gene. Given the recent availability of a new therapy for XLH, a retrospective analysis of the …
gene. Given the recent availability of a new therapy for XLH, a retrospective analysis of the …
Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets
HA BinEssa, M Zou, AF Al-Enezi, B Alomrani… - Bone, 2019 - Elsevier
Context X-linked hypophosphatemic rickets (XLH) is caused by inactivating mutations in the
PHEX gene and is the most common form of hereditary rickets. The splice-site mutations …
PHEX gene and is the most common form of hereditary rickets. The splice-site mutations …
Congenital hypophosphataemia in adults: determinants of bone turnover markers and amelioration of renal phosphate wasting following total parathyroidectomy
MJ McKenna, J Martin-Grace, R Crowley… - Journal of Bone and …, 2019 - Springer
Congenital hypophosphataemia (CH) is a collection of disorders that cause defective bone
mineralisation manifesting with rickets in childhood and osteomalacia in adulthood. Bone …
mineralisation manifesting with rickets in childhood and osteomalacia in adulthood. Bone …
[HTML][HTML] X-连锁显性低血磷性佝偻病/骨软化症患者血清成纤维细胞生长因子23 水平
张丛， 赵真， 许莉军， 庞倩倩， 虞凡， 姜艳… - 中华骨质疏松和骨矿盐 …, 2019 - xml-data.org
目的研究中国X-连锁显性低血磷性佝偻病/骨软化症(X-linked dominant hypophosphatemic
rickets/osteomalacia, XLH) 患者血清成纤维细胞生长因子23 (fibroblast growth factor-23, FGF …
rickets/osteomalacia, XLH) 患者血清成纤维细胞生长因子23 (fibroblast growth factor-23, FGF …
The first Korean case report with scaphocephaly as the initial sign of X-linked hypophosphatemic rickets
KS Lee, BL Lee - Child's Nervous System, 2019 - Springer
Introduction X-linked hypophosphatemic rickets (XLH) can occasionally cause premature
fusion of cranial sutures through an increased level of fibroblast growth factor 23 (FGF-23) …
fusion of cranial sutures through an increased level of fibroblast growth factor 23 (FGF-23) …
Identification a novel insertion PHEX mutation in a sporadic patient with hypophosphatemic rickets
P Jin, LH Wang, ZH Mo - Journal of Endocrinological Investigation, 2019 - Springer
Hypophosphatemic ricket (HR) is characterized by abnormal bone mineralization due to
defective renal phosphate reabsorption. X-linked dominant hypophosphatemia (XLH) …
defective renal phosphate reabsorption. X-linked dominant hypophosphatemia (XLH) …