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)

Waheed, Nadia; Fayyaz, Zafar; Imran, Ahmad

doi:10.1186/s43042-021-00197-2

Egyptian Journal of Medical Human Genetics

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Last updated: Fri, 19 Apr 2024 14:03:03 Z

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)

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