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Details on Person Zaki, Maha S
| Class:Id | Person:5602220 |
| _displayName | Zaki, Maha S |
| _timestamp | 2014-06-20 14:39:15 |
| created | [InstanceEdit:5602246] Jassal, Bijay, 2014-06-20 |
| firstname | Maha S |
| initial | MS |
| surname | Zaki |
| (author) | [LiteratureReference:5602208] Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia [LiteratureReference:8865651] Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome [LiteratureReference:8877974] Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome [LiteratureReference:8959832] Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man [LiteratureReference:9815355] Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy [LiteratureReference:9841229] Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis |
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No pathways have been reviewed or authored by Zaki, Maha S (5602220)