Results 241 to 250 of about 76,665 (295)

Bone Scintigraphy and Laboratory Clues to Osteomalacia in a Middle-Aged Man With Hip Fractures. [PDF]

Clin Nucl Med
Chuang TL, Wang YF.
europepmc   +1 more source

The impact of monoallelic inactivation mutations in the ENPP1 gene on pediatric skeletal development: a case report and literature review. [PDF]

Front Endocrinol (Lausanne)
Lu S, Sun N, Li Y, Wu Z, Zhang J.
europepmc   +1 more source

Burosumab treatment of a child with McCune-Albright syndrome/polyostotic fibrous dysplasia: challenges and benefits. [PDF]

JBMR Plus
Sakka SD, Georgakopoulou D, Doulgeraki A, Krieg AH, Anastasopoulos J, Szinnai G, Kanaka-Gantenbein C.   +6 more
europepmc   +1 more source

Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes. [PDF]

Orphanet J Rare Dis
Vallejo M, Villarreal V, Guardiola MA, Bachiller W, Moreno M, Vargas P, López LJ.   +6 more
europepmc   +1 more source

Unusual PHEX variants implicate uncommon genetic mechanisms for X-linked hypophosphatemic rickets. [PDF]

JBMR Plus
Alzoebie L, Li D, Wang X, Weber DR, Levine MA.   +4 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

Clinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype-Genotype Correlation. [PDF]

Diagnostics (Basel)
Olivas-Valdez MA, Blanco-López A, Velázquez-Arestegui D, Vera-Zazueta T, Colmenares-Bonilla D, Reyes-Morales L, Blanco-Uriarte MA, Monterde-Cruz L, Hidalgo-Bravo A.   +8 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

Editorial: What's new in endocrinology? volume II. [PDF]

Front Endocrinol (Lausanne)
Holly JMP, Blackman MR, Radovick S, Vaudry H.   +3 more
europepmc   +1 more source

[Surgical strategies for osteotomy correction of severe lower limb deformities in hypophosphatemic rickets]. [PDF]

Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi
Jiao S, Qin S, Wang Z, Guo Y, Xu H, Liu Z, Wang S.   +6 more
europepmc   +1 more source