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- W2919388862 abstract "Combined methylmalonic acidemia and homocystinuria is a rare congenital disease characterized by abnormal organic acid metabolism. The cblC type is the most common clinical type of this disease, and it’s a multisystem disease caused by restricted intestinal absorption of vitamin B12 resulting from transcobalamin II deficiency [1]. Its main clinical manifestations are impairments in the nervous system, the kidneys, and the blood system. Changes in the macula as a concomitant condition have not received due attention. A typical pedigree will be demonstrated in this section, and we can see the completely different prognoses resulting from different treatment timings." @default.
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- W2919388862 date "2019-01-01" @default.
- W2919388862 modified "2023-10-17" @default.
- W2919388862 title "The Fundus Appearance of Methylmalonic Acidemia Combined with Homocystinuria" @default.
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- W2919388862 doi "https://doi.org/10.1007/978-981-13-2502-1_20" @default.
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