Results 111 to 120 of about 11,040 (189)

Respiratory failure in a patient with hypophosphatemic rickets: can an endobronchial stent make the difference? [PDF]

Clin Med (Lond), 2023
Mobeireek A, Alhajji M, Zeitouni M.
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

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

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

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

Renal Hypophosphatemic Rickets [PDF]

Korean Journal of Electrolyte Metabolism, 2004
openaire   +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