Results 201 to 210 of about 4,392 (235)

Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets

Journal of the American Academy of Orthopaedic Surgeons, 2015
X-linked hypophosphatemia is an inheritable disorder of renal phosphate wasting that clinically manifests with rachitic bone pathology. X-linked hypophosphatemia is frequently misdiagnosed and mismanaged. Optimized medical therapy is the cornerstone of treatment.
Melinda S, Sharkey, Karl, Grunseich, Thomas O, Carpenter   +2 more
openaire   +2 more sources

Novel PHEX Gene Mutation Associated with X Linked Hypophosphatemic Rickets

Nephron Physiology, 2010
<i>Introduction:</i> X-linked hypophosphatemia (XLH) is characterized by renal phosphate wasting with hypophosphatemia, short stature, and rachitic manifestations. <i>Clinical Picture:</i> We describe a novel nonsense mutation in exon 3 of the PHEX gene (Glu⁹⁶X (c.286G>T) causing XLH in a mother and ...
M, Chandran, C L, Chng, Y, Zhao, Y M, Bee, L Y, Phua, B L, Clarke   +5 more
openaire   +2 more sources

Tertiary Hyperparathyroidism in X-linked Hypophosphatemic Rickets

2018
female, 34 ...
openaire   +1 more source

Clinical aspects of X-linked hypophosphatemic rickets.

Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi, 2002
X-link hypophosphatemia (XLH) is the most common heritable form of rickets and is usually transmitted as an X-linked dominant disorder Until now there is no report about clinical data of XLH in Taiwan. We retrospectively studied 15 patients (5 males and 10 females) of XLH in our hospital in the past 18 years to delineate the clinical aspects of this ...
Wen-Ting, Chung, Dau-Ming, Niu, Ching-Yuang, Lin   +2 more
openaire   +1 more source

[Gene mutation analysis of X-linked hypophosphatemic rickets].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2014
To investigate the frequency and type of PHEX gene mutations in children with X-linked hypophosphatemic rickets (XLH), the possible presence of mutational hot spots, and the relationship between genotype and clinical phenotype.Clinical data of 10 children with XLH was retrospectively reviewed. The relationship between gene mutation type and severity of
Ying, Song, Hong-Wei, Ma, Fang, Li, Man, Hu, Shuang, Ren, Ya-Fen, Yu, Gui-Jie, Zhao   +6 more
openaire   +1 more source

The care of the patient with X-linked hypophosphatemic rickets.

European journal of paediatric dentistry
X-linked hypophosphatemic rickets (XLH) is characterised by severe skeletal deformities and dental abnormalities. The aim of this work is to examine the prevalence of abscesses, the features of pulp chambers, and the biochemical and histological signs of the disease.Pulp chambers size, shape, and morphology were assessed by orthopantomography in XLH ...
Giuca, M. R., Carli, E., Baroncelli, G. I., Ligori, S., Capotosti, I., Zampollo, E.   +5 more
openaire   +2 more sources

Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases

Pediatric Radiology, 2007
The recent observations of two new cases of X-linked hypophosphatemic rickets associated with premature closure of the sagittal suture prompted a review of similar cases seen in this institution.To review the clinical records and skull radiographs of 28 children with hypophosphatemic rickets in order to investigate the frequency and type of ...
openaire   +2 more sources

X-linked Hypophosphatemic Rickets

2009
Deborah Bartholdi, Albert Schinzel, Deborah Bartholdi, Albert Schinzel, Deborah Bartholdi, Albert Schinzel, Deborah Bartholdi, Albert Schinzel, Anthony M. Marinaki, H. Anne Simmonds, Keiya Tada, Yoichi Matsubara, Mark Berneburg, Thomas Schwarz   +13 more
openaire   +1 more source

Intramyocellular phosphate metabolism in X-linked hypophosphatemic rickets

The Journal of Pediatrics, 1990
G D, Clarke, G, Kainer, W F, Conway, J C, Chan   +3 more
openaire   +2 more sources

X-linked hypophosphatemic rickets

The Journal of Pediatrics, 1967
openaire   +1 more source