Wien Med Wochenschr 2020 Jan 28
Multidisciplinary patient care in X-linked hypophosphatemic rickets: one challenge, many perspectives.
Raimann A, Mindler GT, Kocijan R, Bekes K, Zwerina J, Haeusler G, Ganger R
X-linked hypophosphatemic rickets (XLH, OMIM #307800) is a rare genetic metabolic disorder caused by dysregulation of fibroblast-like growth factor 23 ...
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Source: PubMed
J. Dent. Res. 2020 Jan 24
Dentoalveolar Defects in the Hyp Mouse Model of X-linked Hypophosphatemia.
Zhang H, Chavez MB, Kolli TN, Tan MH, Fong H, Chu EY, Li Y, Ren X, Watanabe K, Kim DG, Foster BL
Mutations in PHEX cause X-linked hypophosphatemia (XLH), a form of hypophosphatemic rickets. Hyp (Phex mutant) mice recapitulate the XLH phenotype. De ...
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Source: PubMed
Sudan J Paediatr
Awareness of medical students about vitamin D deficiency at Ahfad University for women, Sudan.
Ali SM, Salih LMA, Saeed E
Vitamin D deficiency is not only associated with rickets and osteomalacia, but also with several chronic diseases, such as cancer, ischaemic heart dis ...
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Source: PubMed
BMJ Case Rep
Rickets with hypophosphatemia, hypokalemia and normal anion gap metabolic acidosis: not always an easy diagnosis.
Agrawal SS, Mishra CK, Agrawal C, Chakraborty PP
Rickets other than those associated with advanced kidney disease, isolated distal renal tubular acidosis (dRTA) and hypophosphatasia (defective tissue ...
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Source: PubMed
Paediatr Drugs 2020 Jan 22
New Developments in the Treatment of X-Linked Hypophosphataemia: Implications for Clinical Management.
Saraff V, Nadar R, Högler W
X-linked hypophosphataemia (XLH) is due to mutations in phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) and rep ...
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Source: PubMed
