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Details on Person Rothfels, Karen, 2024-07-26
| Class:Id | InstanceEdit:9916874 |
| _displayName | Rothfels, Karen, 2024-07-26 |
| _timestamp | 2024-07-26 17:46:13 |
| author | [Person:1226097] Rothfels, Karen |
| dateTime | 2024-07-26 17:46:07 |
| (created) | [Person:9916870] Reuter, Miriam S [Person:9916871] Leis, Thomas [Person:9916872] Bähr, Luzy [Person:9916873] Ekici, Arif B [Person:9916875] Rauh, Manfred [Person:9916876] Schanze, Ina [Person:9916877] Uebe, Steffen [LiteratureReference:9916878] HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders [Person:9916879] Köhler, Julia |
| (edited) | [Pathway:9865113] Loss-of-function mutations in DBT cause MSUD2 [Homo sapiens] [Pathway:9865114] Maple Syrup Urine Disease [Homo sapiens] [FailedReaction:9865115] DBT loss-of-function mutants don't synthesize BCAA-CoA [Homo sapiens] [Pathway:9865118] Diseases of branched-chain amino acid catabolism [Homo sapiens] [Pathway:9865125] Loss-of-function mutations in BCKDHA or BCKDHB cause MSUD [Homo sapiens] [Pathway:9907570] Loss-of-function mutations in DLD cause MSUD3/DLDD [Homo sapiens] [FailedReaction:9907572] Loss-of-function DLD mutants don't dehydrogenate dihydrolipoyl DBT [Homo sapiens] [Pathway:9909438] 3-Methylcrotonyl-CoA carboxylase deficiency [Homo sapiens] [FailedReaction:9909466] MCCC mutants don't synthesize beta-methylglutaconyl-CoA [Homo sapiens] [FailedReaction:9912480] BCKDK loss-of-function mutations do not phosphorylate BCKDH [Homo sapiens] |
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No pathways have been reviewed or authored by Rothfels, Karen, 2024-07-26 (9916874)