Article

Central Precocious Puberty in a Chinese Girl with cblC-Type Methylmalonic Acidemia: a case report

2024-01-31

Abstract excerpt

<title>Abstract</title> <p>Background Cobalamin C-type methylmalonic acidemia (cblC-type MMA) is an autosomal-recessive genetic disease characterized by intracellular cobalamin (vitamin B12) metabolic disorder caused by <italic>MMACHC</italic> mutations. cblC-type MMA has diverse clinical manifestations due to the dysfunction of multiple organs. Central precocious puberty (CPP) is caused by early activation of t...

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Literature Corpus work: 41cc3ccb-ec34-5b27-ab8d-830003cfb429
DOI: 10.21203/rs.3.rs-3890066/v1

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