Results 111 to 120 of about 3,965 (174)

Hearing impairment in X-linked hypophosphatemia: a review. [PDF]

JBMR Plus
Oh S, Sandy JL, Munns CF, Simm PJ, Siafarikas A, Collins L, Wall CL, Craig ME, Rodda CP, Biggin A.   +9 more
europepmc   +1 more source

Genetic causes of nephrolithiasis and nephrocalcinosis in a pediatric population in Saudi Arabia. [PDF]

Pediatr Nephrol
Alsubaie H, Alluhaybi B, Zaidan F, Rahbeeni Z, Alsabban E, Alshareef T, Almaiman W, Alhuthil R, Saadeh S.   +8 more
europepmc   +1 more source

Monogenic Phosphate Balance Disorders [PDF]

, 2011
Helge Raeder, Robert Bjerknes, Silje Rafaelsen   +2 more
core   +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

Inadequate pediatric reference ranges impede the diagnosis of X-linked hypophosphatemia and hypophosphatasia in Austria. [PDF]

Wien Klin Wochenschr
Steininger J, Jablonska M, Sagmeister S, Mindler G, Raimann A.   +4 more
europepmc   +1 more source

A GENETIC STUDY OF FAMILIAL HYPOPHOSPHATEMIA AND VITAMIN D RESISTANT RICKETS WITH A REVIEW OF THE LITERATURE

Medicine, 1958
R W, WINTERS, J B, GRAHAM, T F, WILLIAMS, V W, McFALLS, C H, BURNETT   +4 more
openaire   +2 more sources

Recurrent Familial Normophosphatemic Tumoral Calcinosis: A Case Report. [PDF]

J Orthop Case Rep
Buddhia S, Dalei TR, Sahoo KB, Chowdhury RK.   +3 more
europepmc   +1 more source

Double Parathyroid Carcinoma Associated With CDC73 Mutation: A Rare Case. [PDF]

Cureus
Baptista S, Leandro H, Gama C, Lameiras D, Alves Rafael A, Marques B, Chorão M, Saldanha T.   +7 more
europepmc   +1 more source

Novel Variants and Clinical Heterogeneity in Pediatric Calcium Metabolism Disorders Identified Through High-Yield Tiered Genetic Testing in a Taiwanese Cohort. [PDF]

Medicina (Kaunas)
Kang TY, Chou YY, Chang YM, Pan YW, Tsai MC.   +4 more
europepmc   +1 more source

Oncogenic rickets diagnosed at age 8 and the risk of persistent rickets: a rare case of pediatric-onset tumor-induced osteomalacia. [PDF]

Osteoporos Int
Lasnier-Siron J, Perret R, Jaafar A, Schaeverbeke T, Cetre NM.   +4 more
europepmc   +1 more source