|
Rickets
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
X-linked hypophosphatemia (XLH), due to a PHEX gene mutation, is the most common genetic form of rickets and osteomalacia.
|
30711691 |
2019 |
|
Rickets
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic effects including impaired growth, rickets, osteomalacia, bone abnormalities, bone pain, spontaneous dental abscesses, hearing difficulties, enthesopathy, osteoarthritis, and muscular dysfunction.
|
30808384 |
2019 |
|
Rickets
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Key inclusion criteria were age 1-4 years at the time of informed consent; fasting serum phosphorus concentration of less than 0·97 mmol/L (3·0 mg/dL); serum creatinine 8·8-35·4 μmol/L (0·1-0·4 mg/dL); radiographic evidence of rickets (at least five participants were required to have a Thacher Rickets Severity Score of ≥1·5 at the knee); and a confirmed PHEX mutation or a variant of unknown significance in the patient or direct relative also affected with X-linked hypophosphataemia.
|
30638856 |
2019 |
|
Rickets
|
0.200 |
Biomarker
|
disease |
BEFREE |
For the past four decades, XLH has been treated by oral phosphate supplementation and calcitriol, which improves rickets and osteomalacia and the dental manifestations, but often does not resolve all aspects of the mineralization defects.
|
31392510 |
2019 |
|
Rickets
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The PHEX gene (Phosphate-regulating gene with homologies to endopeptidase on the X chromosome) encodes a metallopeptidase, which is mutated in patients with a prevalent form (1:20,000) of inherited rickets-X-linked hypophosphatemia (XLH).
|
27270332 |
2016 |
|
Rickets
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Sanger sequencing and multiplex ligand-dependent probe amplification analysis of PHEX and Sanger sequencing of FGF23, DMP1, ENPP1KL, and FAM20C were performed to assess genotype in patients with HH with or without rickets in all pediatric hospital departments across Norway.
|
26543054 |
2016 |
|
Rickets
|
0.200 |
Biomarker
|
disease |
BEFREE |
Here we discuss conditions fitting under the umbrella of rickets, which traditionally referred to skeletal disease associated with vitamin D deficiency but has been more recently expanded to include newly identified factors involved in endocrine regulation of vitamin D, phosphate, and calcium, including phosphate-regulating endopeptidase homolog, X-linked, fibroblast growth factor 23, and dentin matrix protein 1.
|
23939820 |
2014 |
|
Rickets
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These three types of rickets are related to mutations in PHEX, FGF23 and dentin matrix protein 1 (DMP1), respectively.
|
21050253 |
2011 |
|
Rickets
|
0.200 |
AlteredExpression
|
disease |
LHGDN |
What's new in hypophosphataemic rickets?
|
18214537 |
2008 |
|
Rickets
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Although more than 140 mutations in the PHEX gene have been identified in patients with X-linked hypophosphatemia (XLH), the most prevalent form of inherited rickets, the molecular consequences of disease-causing PHEX mutations have not yet been investigated.
|
11468271 |
2001 |
|
Rickets
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the PEX gene has been linked to human and murine Hyp rickets.
|
9803442 |
1998 |
|
Rickets
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We have studied 22 adults (6 men) with XLH to clarify these aspects of this most common inherited form of rickets and osteomalacia.
|
2811660 |
1989 |
|
Rickets
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|