Results 131 to 140 of about 2,043 (190)

Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Pediatric Patients With X-Linked Hypophosphatemia.

J Clin Endocrinol Metab
Ali DS, Mirza RD, Hussein S, Alsarraf F, Alexander RT, Abu Alrob H, Appelman-Dijkstra NM, Biosse-Duplan M, Brandi ML, Carpenter TO, Chaussain C, Dandurand K, Filler G, Florenzano P, Fukumoto S, Grasemann C, Imel EA, Jan de Beur SM, Morgante E, Ward LM, Khan AA, Guyatt G.   +21 more
europepmc   +1 more source

X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline.

J Clin Endocrinol Metab
Khan AA, Ali DS, Appelman-Dijkstra NM, Carpenter TO, Chaussain C, Imel EA, Jan de Beur SM, Florenzano P, Abu Alrob H, Aldabagh R, Alexander RT, Alsarraf F, Beck-Nielsen SS, Biosse-Duplan M, Cohen-Solal M, Crowley RK, Dandurand K, Filler G, Friedlander L, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid MK, Khan S, Khan A, Lehman A, Lems WF, Lewiecki EM, McDonnell C, Mirza RD, Morgante E, Morrison A, Portale AA, Rhee Y, Rush ET, Siggelkow H, Tetradis S, Tosi L, Ward LM, Guyatt G, Brandi ML.   +43 more
europepmc   +1 more source

Alteration of Bone Microarchitecture in Hereditary Distal RTA Patients With SLC4A1 Gene Mutation: Assessed by HR-pQCT.

J Clin Endocrinol Metab
Chen R, Cui L, Du J, Zhang S, Jiang Y, Li M, Xing X, Wang O, Xia W.   +8 more
europepmc   +1 more source

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Severe Familial Hypophosphatemic Rickets

American Journal of Diseases of Children, 1970
In 1966, one of us (E.J.S.) reported the case of a 19-month-old boy in whom familial hypophosphatemic vitamin D resistant rickets (VDRR) was diagnosed on the first day of life. 1 Starting at age 3 months, when his disease was demonstrated to be severe, he received vitamin D in therapeutic doses. Normal growth ensued; at 19 months the child's height was
E J, Schoen, J B, Reynolds
openaire   +2 more sources

Growth in familial hypophosphatemic vitamin D—resistant rickets

The Journal of Pediatrics, 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.
S L, McNair, G B, Stickler
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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
Gadi, Fishman, Denise, Miller-Hansen, Cynthia, Jacobsen, Virender K, Singhal, Uri S, Alon   +4 more
openaire   +2 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
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