Article

Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria

2023-02-23

Abstract excerpt

<h4>Background: </h4> Hereditary hypophosphatasia rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterised by reduced renal phosphate reabsorption leading to hypophosphataemia, rickets and bone pain. Case presentation To learn about the clinical presentation and treatment of the disease, we performed Clinical examinations, biochemical, radiological analyses and mutation analysis of...

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Literature Corpus work: 5c92b4f5-2d91-518b-adaa-3ee7b78c2a38
DOI: 10.21203/rs.3.rs-2497346/v1

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