X-linked hypophosphatemia (human)
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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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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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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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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Randomized trial of the anti FGF23 antibody KRN23 in X linked hypophosphatemia
... respectively (both from DiaSorin). Urinary Pi was measured colorimetri- cally (QuantiChrom Assay Kit, DIPI-500; BioAssay Systems), and intact FGF23 was measured using a validated two-site ELISA (Kainos Labo- ratories) at ...
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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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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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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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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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Molecular genetics of X-linked deafness
... for X - linked deafness, D F N 3 , at Xq21 (R eardon e t ...of X-linked d eafn ess in order to identify more patients with th e sam e ...of X-linked deafness according to ...
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X-linked disorders with cerebellar dysgenesis
... because X-linked cerebellar disorders are frequently associated with mild to severe developmental/cognitive ...deficiency, X-linked adrenoleukodystrophy, X-linked ...different ...
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The molecular basis of X-linked agammaglobulinemia
... the human genom e is single copy, with the rest being com prised o f repetitive sequences (reviwed in Lewin, ...using human and yeast D N A can prevent some o f these repeats contributing to the ...
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Update on oral-facial-digital syndromes (OFDS)
... “unclassified” X-linked lethal congenital malformation syndrome and a splice mutation in the OFD1 gene have been ...in X-linked recessive conditions, namely (1) a mental retardation syndrome ...
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The Evolution of X-Linked Genomic Imprinting
... of X-imprinting. The model compares two forces that select for X-imprinting: genomic conflict caused by polygamy and sex-specific ...maternal X gene expression and cannot explain silencing of the ...
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Dynamic Copy Number Evolution of X- and Y-Linked Ampliconic Genes in Human Populations
... deleterious X–Y dosage disrup- tion in hybrids (Larson et ...of X and Y chromosome expression during spermatogenesis is pervasive in mice hy- brids, affecting meiotic sex chromosome inactivation, a cru- ...
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Original Article Renal hypophosphatemia and osteomalacia during long-term therapy of adefovir dipivoxil in patients with chronic hepatitis B
... Ages, gender, body weight, antiviral drugs appli- cation and drug resistance, clinical diagnosis and manifestation were recorded when the diagnosis of ADV-induced hypophosphatemia and hypophosphatemic osteomalacia ...
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