Results 91 to 100 of about 190,229 (170)

Six cases of <i>ENPP1</i> pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy. [PDF]

JBMR Plus
Collins L, Sandy J, Ly S, Lomax KE, Black S, McKenzie F, Hayes E, Poulton C, Jefferies C, Hunter W, Simm P, Rodda C, Biggin A, Munns C, Siafarikas A.   +14 more
europepmc   +1 more source

Early Dental Manifestations and Multidisciplinary Management of X-Linked Hypophosphatemic Rickets in a Pediatric Patient: A Case Report. [PDF]

Children (Basel)
Mitova N, Petkova-Ninova V, Popova Y.
europepmc   +1 more source

A case and review of fibroblast growth factor-23-mediated hypophosphatemic osteomalacia in the absence of pathogenic <i>PHEX</i> variants. [PDF]

JBMR Plus
Park YA, Gong JY, Chiang C, Trainer AH, Yates CJ.   +4 more
europepmc   +1 more source

Management of X-Linked Hypophosphatemia During Pregnancy: Case Report and Literature Review. [PDF]

Calcif Tissue Int
Arcidiacono GP, Falb MP, Torres MO, Camozzi V, Diogo M, Guidolin F, Cecchinato A, Campello E, Simioni P, Giannini S, Sella S.   +10 more
europepmc   +1 more source

A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy. [PDF]

Calcif Tissue Int
Lim WT, Nenke M, Rawlings L, Wells A, Vakulin C, Waters W, De Sousa S.   +6 more
europepmc   +1 more source

Molecular Basis of Rare Inherited Tubulopathies of the Kidney: A Primer for Clinicians. [PDF]

Int J Mol Sci
Vecino-Pérez M, García-Murias M, Carrera N, Pedrosa P, García-González MÁ.   +4 more
europepmc   +1 more source

Burosumab in infants with X-linked hypophosphatemic rickets: a case series. [PDF]

Orphanet J Rare Dis
Regev R, Brener A, Dror N, Krespi R, Rapalino R, Chorna E, Borger O, Lopez A, Lebenthal Y, Zeitlin L.   +9 more
europepmc   +1 more source

Real-world impact of treatment on growth in children with X-linked hypophosphatemia.

J Clin Endocrinol Metab
Fukumoto S, Haffner D, Imel EA, Ozono K, Brandi ML, Ishii H, Li Z, Sandilands K, Joos-Vandewalle P, Lee C, Kanematsu M, McCullough KP, Carpenter TO.   +12 more
europepmc   +1 more source

3D-printed model combined with the Ilizarov technique in the treatment of genu varum in children with hypophosphatemic rickets. [PDF]

J Orthop Surg Res
Chen S, Gao B, Shi Q.
europepmc   +1 more source

Hereditary Hypophosphatemic Rickets with Hypercalciuria-Importance of Further Evaluation when Clinical Suspicion is Strong [PDF]

J Clin Res Pediatr Endocrinol
Wettasinghe CA, Kumarasiri IM, Vidushajini M, Hoole TJ, Nimanthi MWA, Jayasundara I, Balasubramaniam R, Atapattu N.   +7 more
europepmc   +1 more source