Results 91 to 100 of about 2,043 (190)

Variants of unknown significance are common in brushite stone formers undergoing genetic testing for nephrolithiasis. [PDF]

Urolithiasis
Paneque T, Berst K, Sambharia M, Swee M, Kimble M, Mansilla MA, Freese M, Thomas CP, Tracy CR, Steinberg RL.   +9 more
europepmc   +1 more source

Monogenic Phosphate Balance Disorders [PDF]

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

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

Reclassification of Hypophosphatemic Bone Disease as X-Linked Hypophosphatemia Following Genetic Testing in Adulthood. [PDF]

AACE Endocrinol Diabetes
Kamel L, Hussain A, Elmewafy A, Ali DS, Khan AA.   +4 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

Management preferences of orthopedic surgeons in rickets patients in Turkey: Results of a nationwide survey. [PDF]

PLoS One
Turhan B, Yaşar NE, Sungur MA, Turhan Y, Bekmez Ş.   +4 more
europepmc   +1 more source

Approach to a Child with Hypophosphatemia. [PDF]

Biomolecules
Antonowicz A, Lipiński P, Popow M, Skrzypczyk P.   +3 more
europepmc   +1 more source

Schimmelpenning-Feuerstein-Mims syndrome: a systematic review of clinical cases to identify genotype-phenotype associations. [PDF]

Front Med (Lausanne)
Zelenova E, Belysheva T, Sharapova E, Semenova V, Valiev T, Nasedkina T.   +5 more
europepmc   +1 more source

Familial hypophosphatemic rickets

, 2012
openaire   +1 more source