Results 121 to 130 of about 190,229 (170)

Case Report: Increased FGF23 and new insufficiency fractures at burosumab discontinuation in X-linked hypophosphatemia. [PDF]

Front Endocrinol (Lausanne)
Bandir R, Zanisi L, Nicod-Lalonde M, Gonzalez-Rodriguez E.   +3 more
europepmc   +1 more source

Burosumab prevents further height deficit in toddlers affected by XLH. [PDF]

Endocr Connect
Sala E, Berkenou J, Rothenbuhler A, Lambert AS, Audrain C, Girerd B, Pitea M, Mora S, Linglart A, Ertl DA.   +9 more
europepmc   +1 more source

X-Linked Hypophosphatemia: Role of Fibroblast Growth Factor 23 on Human Skeletal Muscle-Derived Cells. [PDF]

Calcif Tissue Int
Falsetti I, Palmini G, Donati S, Aurilia C, Zonefrati R, Di Filippo L, Giustina A, Giannini S, Arcidiacono GP, Iantomasi T, Lazzerini D, Joos-Vandewalle P, Lee C, Brandi ML.   +13 more
europepmc   +1 more source

Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets

Journal of Pediatric Endocrinology and Metabolism, 2015
AbstractHypophosphatemic rickets (HR) is a syndrome of hypophosphatemia and rickets that resembles vitamin D deficiency, which is caused by malfunction of renal tubules in phosphate reabsorption. Phosphate is an essential mineral, which is important for bone and tooth structure.
Thilakavathy Karuppiah
exaly   +4 more sources

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Growth in Familial Hypophosphatemic Vitamin-D-Resistant Rickets

New England Journal of Medicine, 1969
Abstract Data on 36 patients with vitamin-D-resistant rickets indicate that the disease is manifested primarily by shortness of stature. This shortness appears to be limited to the lower extremities. The shortness is not related to the level of serum phosphorus or to the deformity alone, and it is similar in both sexes.
Gunnar B Stickler
exaly   +4 more sources

Hearing impairment in familial X-linked hypophosphatemic rickets

European Journal of Pediatrics, 2004
Hearing impairment in patients with X-linked dominant hypophosphatemic rickets (XLH) is likely part of the natural history of the disease, developing during adulthood. Therefore, whereas close follow up and hearing monitoring is recommended in adults, serial audiograms in children with XLH are not justified. Furthermore, in a child with XLH and hearing
Uri Alon, Gadi Fishman
exaly   +3 more sources

FAMILIAL HYPOPHOSPHATEMIC VITAMIN D RESISTANT RICKETS

Acta Paediatrica, International Journal of Paediatrics, 1969
SummarySurvey of all available data of infants with familial hypophosphatemia vitamin D resistant rickets observed partially or throughout the first year of life indicates that hypophosphatemia begins in the neonatal period regardless of whether or not the mother had been treated with vitamin D in high doses.
G B Stickler
exaly   +3 more sources

[Growth hormone treatment of familial hypophosphatemic rickets].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 1998
X-linked hypophosphatemic rickets (XLHR) is frequently associated with growth retardation and short adult stature, even with an appropriate conventional treatment associating phosphate and calcitriol or 1 alpha-hydroxyvitamin D. Its pathogenesis is unclear; growth hormone (GH) secretion is usually normal.
SAGGESE, GIUSEPPE, BARONCELLI GI, BARSANTI S.   +2 more
openaire   +3 more sources