Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder
Abstract Combined methylmalonic aciduria and homocystinuria (cobalamin C deficiency, cblC) is a well‐described disorder of vitamin B12 metabolism caused by mutations in the MMACHC gene with multisystemic manifestations. While there is no cure, combined treatment with intramuscular hydroxycobalamin a...
I tiakina i:
| Ngā kaituhi matua: | , , |
|---|---|
| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Wiley
2020-09-01
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| Rangatū: | JIMD Reports |
| Ngā marau: | |
| Urunga tuihono: | https://doi.org/10.1002/jmd2.12145 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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