Spectrum of clinical manifestation of methylmalonic acidemia and homocystinuria in a family of six siblings: novel combination of transcobalamin receptor defect (CD320) and cblC deficiency (MMACHC)
Abstract Background Methylmalonic acidemia with homocystinuria is caused by a rare inborn error of vitamin B12 (cobalamin) metabolism. There are four complementation classes of cobalamin defects cblC, cblD, cblF, and cblJ that are responsible for combined methylmalonic acidemia and homocystinuria. C...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
SpringerOpen
2021-10-01
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| Σειρά: | Egyptian Journal of Medical Human Genetics |
| Θέματα: | |
| Διαθέσιμο Online: | https://doi.org/10.1186/s43042-021-00197-2 |
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