Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Karlpiet, Schlingmann"'
Autor:
Celia Rodd, Arati Mokashi, Glenville Jones, Maury Pinsk, R. Todd Alexander, Caroline Zuijdwijk, Indra R. Gupta, Karlpiet Schlingmann, Munier Nour, Isabelle Rousseau-Nepton, Karine Khatchadourian, Martin Kaufmann, Danièle Pacaud
Publikováno v:
Hormone Research in Paediatrics. 94:124-132
Objectives: Biallelic pathogenic variants in CYPA24A1 and SLC34A1 are causes of idiopathic infantile hypercalcemia. Pathogenic variants in both may also give rise to hypercalciuria with nephrocalcinosis or nephrolithiasis without previous hypercalcem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::24f60654ca33d998df1dd2a54e48aab4
https://doi.org/10.1159/000517548
https://doi.org/10.1159/000517548
Autor:
Isabelle, Rousseau-Nepton, Glenville, Jones, Karlpiet, Schlingmann, Martin, Kaufmann, Caroline S, Zuijdwijk, Karine, Khatchadourian, Indra R, Gupta, Danièle, Pacaud, Maury N, Pinsk, Arati, Mokashi, Munier A, Nour, R Todd, Alexander, Celia J, Rodd
Publikováno v:
Hormone research in paediatrics. 94(3-4)
Biallelic pathogenic variants in CYPA24A1 and SLC34A1 are causes of idiopathic infantile hypercalcemia. Pathogenic variants in both may also give rise to hypercalciuria with nephrocalcinosis or nephrolithiasis without previous hypercalcemia (renal gr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dee6a508897f30459628018c3215eac2
https://pubmed.ncbi.nlm.nih.gov/34320495
https://pubmed.ncbi.nlm.nih.gov/34320495