Results 111 to 120 of about 1,505 (162)

Diagnostic yield and genetic landscape of rare pediatric diseases in Vietnam identified by exome sequencing. [PDF]

Sci Rep
Lu YT, Tran UV, Tran HT, Nguyen TL, Nguyen TM, Vu CD, Ta TA, Nguyen TT, Hoang LP, Pham AN, Vu PM, Cam PN, Dao Thi T, Nguyen KT, Nguyen TL, Tran KT, Nguyen KV, Nguyen YN, Le LT, Do TT, Nguyen HN, Hoang TN, Giang H, Tang HS.   +23 more
europepmc   +1 more source

A novel phex gene variant causes non-syndromic tooth agenesis. [PDF]

BMC Oral Health
Pan Y, Hua B, Wang H, Tan S, Lu T, Xiong F, Ma D.   +6 more
europepmc   +1 more source

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 Children: An International Working Group Clinical Practice Guideline.

J Clin Endocrinol Metab
Ali DS, Carpenter TO, Imel EA, Ward LM, Appelman-Dijkstra NM, Chaussain C, Jan de Beur SM, Florenzano P, Abu Alrob H, Aldabagh R, Alexander RT, Alsarraf F, Beck-Nielsen SS, Biosse-Duplan 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, Rao C, Rhee Y, Rush ET, Siggelkow H, Tetradis S, Tosi L, Guyatt G, Brandi ML, Khan AA.   +43 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.
Karuppiah Thilakavathy
exaly   +4 more sources

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   +5 more sources

Growth in Familial Hypophosphatemic Rickets

New England Journal of Medicine, 1969
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