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Article

LRP5-related primary osteoporosis: phenotypic spectrum and treatment response to zoledronic acid.

Journal of pediatric endocrinology & metabolism : JPEM - 26 May 2026

Balagamage Chamila, Sen Proteek, Crabtree Nicola, Williams Denise, Uday Suma

Abstract excerpt

OBJECTIVES: Lipoprotein receptor-related protein-5 (LRP5)-related disorders are characterized by variably reduced vision and juvenile osteoporosis due to loss-of-function mutations in the low-density LRP5 gene. Compelling evidence on effectiveness of bisphosphonate treatment in these disorders remains limited. We aimed to describe the phenotypic spectrum and clinical, densitometric, and fracture outcomes...

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Source

Identifiers

PMID: 41843941
DOI: 10.1515/jpem-2025-0652

Genes

LRP5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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