Results 111 to 120 of about 4,812 (192)

Case Report: A case of x-linked hypophosphatemic rickets complicated with polyostotic fibrous dysplasia caused by PHEX gene mutation and literature review. [PDF]

Front Endocrinol (Lausanne)
Huang S, Lin A, Zhang N, He W, Huo Y, Wang C.   +5 more
europepmc   +1 more source

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

Recurrent Soft Tissue Infections Associated With Burosumab Therapy in X-Linked Hypophosphatemic Rickets. [PDF]

JCEM Case Rep, 2023
Yoon SH, Passarella P.
europepmc   +1 more source

Oral Health Status and Parental Awareness in Children with X-Linked Hypophosphatemic Rickets: A Case-Control Study. [PDF]

Reports (MDPI)
Zlateva V, Hristov K, Todorova Z, Bogovska-Gigova R.   +3 more
europepmc   +1 more source

Epidermal nevus syndrome with hypophosphatemic rickets

Indian Journal of Endocrinology and Metabolism, 2020
Alpesh Goyal, Nishikant Damle, Devasenathipathy Kandasamy, Rajesh Khadgawat   +3 more
openaire   +3 more sources

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

Concordant X-linked hypophosphatemic rickets in monozygotic twins: diagnostic challenges and a novel genetic insight. [PDF]

Endocrinol Diabetes Metab Case Rep
Ribeiro S, Moreno T, Varela A, Soares G, Queirós J.   +4 more
europepmc   +1 more source

Dental Manifestations in Children Affected by Hypophosphatemic Rickets: A Systematic Review and Meta-Analysis. [PDF]

Children (Basel)
Allam A, Cirio S, Elia F, Salerno C, Cagetti MG.   +4 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

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