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Published in 2023 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2023-0001
Abstract: Abstract Osteopetrorickets is a rare complication of autosomal recessive (“malignant”) osteopetrosis. Its prompt diagnosis is essential, because early suspicion of infantile osteopetrosis enables treatment with human stem cell transplantation, depending on the gene involved. It…
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Keywords:
severe hypophosphataemia;
hypophosphataemia early;
case report;
early sign ... See more keywords