Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.
about
A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literatureThe ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.The changing face of hypophosphatemic disorders in the FGF-23 eraA pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications.Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old InfantHypophosphatemic rickets due to perturbations in renal tubular function.Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets.Hypophosphatemic rickets developed after treatment with etidronate disodium in a patient with generalized arterial calcification in infancy.Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets.Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.Hypophosphatemic rickets
P2860
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P2860
Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.
description
2011 nî lūn-bûn
@nan
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Genetic diagnosis of X-linked ...... iated with PHEX mutation type.
@ast
Genetic diagnosis of X-linked ...... iated with PHEX mutation type.
@en
Genetic diagnosis of X-linked ...... iated with PHEX mutation type.
@nl
type
label
Genetic diagnosis of X-linked ...... iated with PHEX mutation type.
@ast
Genetic diagnosis of X-linked ...... iated with PHEX mutation type.
@en
Genetic diagnosis of X-linked ...... iated with PHEX mutation type.
@nl
prefLabel
Genetic diagnosis of X-linked ...... iated with PHEX mutation type.
@ast
Genetic diagnosis of X-linked ...... iated with PHEX mutation type.
@en
Genetic diagnosis of X-linked ...... iated with PHEX mutation type.
@nl
P2093
P2860
P356
P1433
P1476
Genetic diagnosis of X-linked ...... ciated with PHEX mutation type
@en
P2093
Ana Fontalba
Ana Medeira
Angeles Fernandez
Antonio Martínez-Peinado
Berta Rodríguez
Carmen García-Pardos
Fernando Aleixandre
Gema Ariceta
Itxaso Rica
Jaime Vila-Cots
P2860
P2888
P356
10.1186/1471-2350-12-116
P577
2011-09-08T00:00:00Z