Results 51 to 60 of about 1,505 (162)
Familial Hypophosphatemic Rickets - A Case Report and Review of Literature
Bangladesh Journal of Child Health, 2012 DOI: http://dx.doi.org/10.3329/bjch.v34i2.10222 BJCH2010; 34(2): 73-75
Md Shafiqul Alam Chowdhury +2 more
openaire +2 more sources
Case Reports in Endocrinology, Volume 2025, Issue 1, 2025.This case report is centered on an atypical presentation of Hereditary Vitamin D‐dependent Rickets 2A (VDDR2A), a rare disorder caused by defects in the gene encoding the vitamin D receptor (VDR). While this disorder is primarily autosomal recessive in inheritance, this case demonstrates that a single heterozygous variant in the VDR gene could be ...
Risa Goldberg +3 more
wiley +1 more source
, 2012 This study aimed to identify the underlying genetic mutation in patients with hypophosphatemic rickets (HR). Genomic DNA was analysed for mutations in PHEX, FGF23 and CLCN5 by polymerase chain reaction (PCR) followed by denaturing high-performance liquid
Brusgaard, Klaus +7 more
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, 2022 Objectives Lower limb deformities in children need careful orthopedic evaluation to distinguish physiological forms from pathological ones. X-linked hypophosphatemia (XLH) is a rare hereditary condition caused by PHEX gene mutations where tibial varum ...
Digitale, Lucia +13 more
core +1 more source
Phosphate diabetes: a clinical case of family hypophosphatemic rickets
Perm Medical Journal, 2023 Objective. To describe the clinical picture of the course of hypophosphatemic rickets in two members of the same family. Phosphate diabetes is a rare hereditary pathology of mineral and bone metabolism. Materials and methods. There is presented a clinical picture of the course of hypophosphatemic rickets in two members of the same family.
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A familial disorder with low bone density and renal phosphate wasting.
, 2009 Item does not contain fulltextHereditary forms of renal phosphate wasting have been studied thoroughly in the past years. X-linked Hypophosphatemic rickets (XLH), autosomal dominant hypophosphatemic rickets/osteomalacia (ADHR) and autosomal recessive ...
Dogger, M. +4 more
core +1 more source
CLINICAL CASE OF FAMILIAL HYPOPHOSPHATEMIC RICKETS IN A CHILD
Neonatology, Surgery and Perinatal MedicineX-linked hypophosphatemic rickets is an inherited disorder caused by mutations in the PHEX gene (phosphate- regulating proteinwith homology to endopeptidases on the X chromosome). Chronic hypophosphatemia leads to impaired bone mineralization, resulting ingrowth retardation, rickets, and damage to other organs and systems, including maxillofacial ...
M. Aryayev +5 more
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Effect of familial hypophosphatemic rickets on dental development: a controlled, longitudinal study.
, 1995 Familial or X-linked hypophosphatemic rickets (XLHR) is the most common type of rickets in developed countries today. While the dental manifestations of rickets are well reported, there is little information regarding its relationship to dental ...
Seow W.K., Holm I.A., Needleman H.L.
core
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.
, 2005 Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcifications and elevated serum phosphate levels. Recently, mutations in the GALNT3 gene have been described to cause FTC.
Benet-Pagès, A;Orlik, P;Strom, TM;Lorenz-Depiereux, B
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, 2011 The aim of this study was to identify the underlying genetic mutation in patients with hypophosphatemic rickets (HR). The HR patients studied were recruited from a cross-sectional study of 59 HR patients living in Denmark.
Brusgaard, Klaus +4 more
core +1 more source