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A clinician's guide to X-linked hypophosphatemia [PDF]

Journal of Bone and Mineral Research, 2011
Abstract X-linked hypophosphatemia (XLH) is the prototypic disorder of renal phosphate wasting, and the most common form of heritable rickets. Physicians, patients, and support groups have all expressed concerns about the dearth of information about this disease and the lack of treatment guidelines, which frequently lead to missed ...
Thomas O Carpenter, Erik A Imel, Karl L Insogna   +2 more
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Burosumab for Pediatric X-Linked Hypophosphatemia

Current Osteoporosis Reports, 2021
X-Linked hypophosphatemia (XLH) is the most common genetic cause of rickets. This review describes advances in the management of XLH using burosumab which was FDA approved for treating children with XLH in 2018.Elevated FGF23 in XLH leads to systemic hypophosphatemia and several musculoskeletal manifestations, including rachitic bone deformities ...
openaire   +2 more sources

Anthropometric characteristics of X‐linked hypophosphatemia

American Journal of Medical Genetics Part A, 2003
AbstractAn anthropometric study was undertaken to assess head proportions of patients with X‐linked hypophosphatemia (XLH). Fourteen morphometric parameters of the head were measured and 10 cephalic indices calculated in 82 affected persons (57 females and 25 males) from 55 unrelated families with XLH, and compared with the results obtained in the ...
Ewa, Pronicka, Ewa, Popowska, Elzbieta, Rowińska, Elzbieta, Arasimowicz, Małgorzata, Syczewska, Dorota, Jurkiewicz, Michał, Lebiedowski   +6 more
openaire   +2 more sources

Orthopedic and neurosurgical care of X-linked hypophosphatemia

Archives de Pédiatrie, 2021
X-linked hypophosphatemia (XLH) is due to mutations in the PHEX gene leading to unregulated production of FGF23 and uncontrollable hypophosphatemia. XLH is characterized in children by rickets, short stature, waddling gait, and leg bowing of variable morphology and severity.
Federico Di, Rocco, Anya, Rothenbuhler, Catherine, Adamsbaum, Justine, Bacchetta, Zagorka, Pejin, Georges, Finidori, Stéphanie, Pannier, Agnès, Linglart, Philippe, Wicart   +8 more
openaire   +2 more sources

Serum Parathyroid Hormone in X-Linked Hypophosphatemia

Science, 1971
Serum immunoreactive parathyroid hormone (IPTH) is normal in patients with X-linked hypophosphatemic rickets who are not treated with phosphate salts. Phosphate raises IPTH in these patients. Endogenous IPTH does not influence the existing defect in tubular reabsorption of phosphate in male patients.
C, Arnaud, F, Glorieux, C, Scriver
openaire   +2 more sources

New insights into X-linked hypophosphatemia

Current Opinion in Nephrology and Hypertension, 1997
X-linked hypophosphatemia is a heritable form of rickets characterized biochemically by phosphaturia and abnormal bioactivation of vitamin D. Recent advances include the observation, using kidney cells from the X-linked hypophosphatemia mouse model (Hyp), that in-vitro renal phosphate transport is normal yet bone mineralization may be intrinsically ...
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X-lined Hypophosphatemia

American Journal of Diseases of Children, 1991
X-linked hypophosphatemia is a hereditary form of rickets that results from an isolated renal tubular wasting of phosphate. The clinical features unique to this disorder, and the recent advances in our understanding of vitamin D metabolism and molecular genetics in X-linked hypophosphatemia are reviewed.
J D, Hanna, K, Niimi, J C, Chan
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Impaired mineral quality in dentin in X-linked hypophosphatemia

Connective Tissue Research, 2018
X-linked hypophosphatemia (XLH) is a skeletal disorder arising from mutations in the PHEX gene, transmitted in most cases as an X-linked dominant trait. PHEX deficiency leads to renal phosphate wasting and hypophosphatemia, as well as impaired mineralization of bone and dentin, resulting in severe skeletal and dental complications.
Coyac, Benjamin, Falgayrac, Guillaume, Penel, Guillaume, Schmitt, Alain, Schinke, Thorsten, Linglart, Agnès, Mckee, Marc, Chaussain, Catherine, Bardet, Claire   +8 more
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RADIOLOGICAL FINDINGS IN X-LINKED HYPOPHOSPHATEMIA

2020
Radiological findings in X-linked hypophosphatemia are similar to, albeit less severe than, nutritional rickets. Loss of distinctness of the zone of provisional calcification, widening of the growth plate first in the long axis, followed by widening in the short axis, “cupping” of the metaphysis and irregularity (fraying) at the metaphyseal border are ...
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GENETIC CODES OF X-LINKED HYPOPHOSPHATEMIA

2020
X-linked hypophosphatemia (XLH, OMIM 307800) is the most common form of hereditary rickets and it is an X-linked dominantly inherited disorder. Loss of function mutations in the PHEX (Phosphate regulating gene with Homology to Endopeptidases on the X chromosome) gene are responsible for XLH.
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