Results 111 to 120 of about 190,229 (170)

Molecular and Genetic Determinants of Nephrocalcinosis: Mechanisms, Genotype-Phenotype Correlations, and Precision Medicine. [PDF]

Int J Mol Sci
Popa S, Grădinaru AC, Braha EE, Grămescu M, Babici R, Ailenei C, Butnariu LI.   +6 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

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

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

The effects of elevated phosphate on the kidney - damaging the gatekeeper. [PDF]

Pflugers Arch
Mitchell T, Verma V, Fajol A, Faul C.
europepmc   +1 more source

Renal survival in hereditary urolithiasis: a monocentric cohort study from a Tunisian nephrology department. [PDF]

Pan Afr Med J
Bettaieb A, Hajji M, Kaaroud H, Ben Hamida F, Goucha R, Mrad R, Gargah T, Chakroun M, Bouzid K, Abderrahim E.   +9 more
europepmc   +1 more source

Nephrocalcinosis: unveiling renal tubulopathies in the genomic era. [PDF]

J Bras Nefrol
Ayoub EAM, Vaisbich MH, Rocha DR, Cerqueira BP, Matos ACC, Pietrobom IG, Heilberg IP.   +6 more
europepmc   +1 more source

A Novel SLC9A3R1 Mutation as a Rare Cause of Infantile Hypercalcemia. [PDF]

Cureus
Ravi Kumar P, Biswas A, Dash DK, Patro D, Madhav Reddy DS.   +4 more
europepmc   +1 more source

Global perspectives on the burden and management of hypophosphataemic osteomalacia in adult patients: an International Osteoporosis Foundation (IOF) survey. [PDF]

Arch Osteoporos
Brandi ML, Halbout P, Pierroz DD, Harvey NC.   +3 more
europepmc   +1 more source

Distribution of blood pressure and its positive association with body mass index standard deviation score in pediatric patients with X-linked hypophosphatemia: a sub-group analysis from the SUNFLOWER observational study. [PDF]

Endocr J
Fujiwara K, Kabata D, Kawai R, Kang HG, Namba N, Ito N, Shintani A, Fukumoto S, Ozono K, Michigami T.   +9 more
europepmc   +1 more source