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Article

Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation.

Journal of pediatric endocrinology & metabolism : JPEM - 20 Dec 2021

Alikasifoglu Ayfer, Unsal Yagmur, Gonc Elmas Nazli, Ozon Zeynep Alev, Kandemir Nurgun, Alikasifoglu Mehmet

Abstract excerpt

OBJECTIVES: Hereditary hypophosphatemic rickets (HR) is conventionally treated with phosphate and calcitriol. Exploring genotype and phenotypic spectrum of X-linked hypophosphatemic rickets (XLHR), focusing on short-term, long-term, and pubertal impact of conventional treatment was aimed. METHODS: Sixteen patients from 12 unrelated families with HR were analyzed for phosphate regulating endopeptidase homolog...

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Identifiers

PMID: 34525271
DOI: 10.1515/jpem-2021-0387

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