X-linked hypophosphatemia
Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X linked hypophosphatemia
... X-linked hypophosphatemia (XLH) is the archetypal vitamin D– resistant disease in humans and the most common form of inher- ited rickets, with an incidence of approximately 1 in 20,000 live ...
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FGF23 and its role in X-linked hypophosphatemia-related morbidity
... Background: X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked ...
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Thiazide Diuretics Arrest the Progression of Nephrocalcinosis in Children With X-Linked Hypophosphatemia
... ABSTRACT. Objective. X-linked hypophosphatemia (XLH) is characterized clinically by rickets, hypophos- phatemia, and hyperphosphaturia. Conventional treat- ment of XLH with oral phosphate and vitamin ...
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Prosthetic rehabilitation of a patient with X-linked hypophosphatemia using dental implants: a case report and review of the literature
... Background: X-linked hypophosphatemia is associated with a range of dental problems, many of which may result in early loss of the dentition. Most patients, but especially young adults, are likely to ...
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Orthophosphate transport in the erythrocyte of normal subjects and of patients with X linked hypophosphatemia
... We have examined the mechanism of TCA-soluble orthophosphate (Pi) transfer across the membrane of mature human erythrocytes in normal subjects and in patients with X-linked hypophosphatemia ...
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Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X linked hypophosphatemia
... [7]. X-linked hypophosphatemia (XLH; MIM 307800), presenting a prevalence of 1 in 20,000, is the most common form of familial hypophosphatemic rickets (FHR), which is a dominant disorder biochemi- ...
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Oral symptoms and oral health-related quality of life of individuals with x-linked hypophosphatemia
... Odontogenic abscesses in caries-free teeth are often ob- served in those affected by XLH [16, 17]. In general, XLH calls for a high degree of endodontic therapy due to apical periodontitis [18]. Such apical periodontitis ...
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Calcitonin stimulation of renal 25 hydroxyvitamin D 1 alpha hydroxylase activity in hypophosphatemic mice Evidence that the regulation of calcitriol production is not universally abnormal in X linked hypophosphatemia
... convoluted and straight tubules. To more completely define the extent of the 1 alpha- hydroxylase regulatory defect in Hyp-mice, we compared enzyme maximum velocity in normal and mutants after infusion of calcitonin. ...
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Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia
... The EQ-5D-5 L is a generic health-related quality of life measure and may not capture specific problems for this patient group; also the utility score is derived from the preferences of [r] ...
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Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia.
... The aim of this study was to describe the HRQoL of adults with osteogenesis imperfecta, fibrous dysplasia and X-linked hypophophataemia and perform a cost-utility simulation to calculate[r] ...
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Randomized trial of the anti FGF23 antibody KRN23 in X linked hypophosphatemia
... Due, at least in part, to chronic hypophosphatemia, skeletal min- eralization is compromised, causing lower-extremity bowing and other rachitic skeletal abnormalities. The mineralization defect persists in ...
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Nephrocalcinosis Is Associated With Renal Tubular Acidosis in Children With X-Linked Hypophosphatemia
... As we have recently reported, at diagnosis all patients had a normal serum calcium concentration, an inappropriately normal serum concen- tration of 1,25 (OH), vitamin D, for the degree [r] ...
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The Effect of Recombinant Human Growth Hormone in Children With X-Linked Hypophosphatemia
... 4 The current report is the first random- ized, double-blind, crossover study to compare the effect of rhGH therapy versus placebo administra- tion on linear growth, mineral metabolism, [r] ...
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Alpha thalassaemia-mental retardation, X linked
... Drooling is very common in ATR-X, particularly in young children. Many mothers will describe their sons soaking several bibs during the course of the day. The open mouth associated with facial hypotonia no doubt ...
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RICKETS AND MYOPATHY CURED BY REMOVAL OF A NONOSSIFYING FIBROMA OF BONE
... parathyroid hormone-sensitive component of phosphate transport in X-linked hypophos- phatemia. Arnaud, C., Glonieux, F., and Scriver, C.: Serum parathyroid hormone in X-linked hypophosph[r] ...
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A Genome-Wide Survey of Hybrid Incompatibility Factors by the Introgression of Marked Segments of Drosophila mauritiana Chromosomes into Drosophila simulans
... male hybrids are fertile (while males are sterile) not because their X-linked sterility factors are recessive, but rather because they either have no X-linked female ste- rilit[r] ...
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JM2, encoding a fork head–related protein, is mutated in X linked autoimmunity–allergic disregulation syndrome
... an X-linked recessive immunological disorder characterized by multisystem autoimmunity, particularly early-onset type 1 diabetes mellitus, associated with manifestations of severe atopy including eczema, ...
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A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita
... The cases with missense mutations seem similar in phenotype, because all cases (cases 4, 5, 9 and 10) initially reported signs of adrenal insufficiency (Table 2). Case 5 had a missense mutation in the putative LBD (5), ...
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X chromosome duplications affect a region of the chromosome they do not duplicate in Caenorhabditis elegans.
... We show here that duplications suppress an X-linked hypomorphic mutation and elevate the level of activity of an X-linked enzyme, although these two genes are located in a re[r] ...
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Identification and Characterization of Subpopulations of Lymphocytes in Human Peripheral Blood after Fractionation on Discontinuous Gradients of Albumin THE CELLULAR DEFECT IN X LINKED AGAMMAGLOBULINEMIA
... proved X-linked agammaglobulinemia and two with probable X-linked agammaglobulinemia were found to be totally deficient in B lymphocytes (fractions 6-9) and lacked the subpopulation identified ...
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