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BMC GENOMICS, ISSN 1471-2164, 05/2019, Volume 20, Issue 1, pp. 395 - 16
Journal Article
Current Opinion in Psychiatry, ISSN 0951-7367, 03/2019, Volume 32, Issue 2, pp. 73 - 78
Journal Article
FRONTIERS IN PSYCHIATRY, ISSN 1664-0640, 09/2019, Volume 10
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2019, Volume 179, Issue 10, pp. 2138 - 2143
Autosomal recessive COX4I1 deficiency has been previously reported in a single individual with a homozygous pathogenic variant in COX4I1, who presented with... 
Leigh syndrome | cytochrome c oxidase | COX4I1 | mitochondrial disease | GENE | MITOCHONDRIAL | MUTATION | DISEASE | GENETICS & HEREDITY | SIDEROBLASTIC ANEMIA | Cytochrome | Neuroimaging | Mitochondria | Phenotypes | Encephalopathy | Cytochrome-c oxidase | Fanconi syndrome | Electron transport | Myopathy | Seizures
Journal Article
Journal of Mass Spectrometry, ISSN 1076-5174, 11/2018, Volume 53, Issue 11, pp. 1143 - 1154
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 08/2016, Volume 24, Issue 9, pp. 1376 - 1376
Journal Article
Journal of Mass Spectrometry, ISSN 1076-5174, 11/2018, Volume 53, Issue 11, pp. ii - ii
Bryan Wittmann is the Director of Discovery and Translational Sciences for Precision Medicine at Metabolon. Dr. Wittmann joined the Discovery and Translational... 
Medical research | Clinical trials | Medicine, Experimental | Insulin resistance | Medical tests | Product development | Steroid hormones | Prediabetic state | Medicine | Metabolomics | Metabolites | Data acquisition | Quality control | Uniqueness | Data processing | Mass spectroscopy | Diagnostic systems | Mass spectrometry | Testing
Journal Article
Genome Medicine, ISSN 1756-994X, 02/2019, Volume 11, Issue 1, pp. 12 - 17
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 483 - 486
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2016, Volume 24, Issue 9, p. 1376
Journal Article
Journal Article
FRONTIERS IN NEUROSCIENCE, ISSN 1662-453X, 05/2019, Volume 13, p. 394
Broad-scale untargeted biochemical phenotyping is a technology that supplements widely accepted assays, such as organic acid, amino acid, and acylcarnitine... 
2-pyrrolidinone | MRI | vigabatrin | GABA-transaminase deficiency | ABAT | inborn error of metabolism | HYDROXYBUTYRATE | NEUROSCIENCES | DEHYDROGENASE | BRAIN GABA | INBORN-ERRORS | neurometabolic | PLASMA | GABA | 4-aminobutyrate aminotransferase deficiency | SEMIALDEHYDE | GAMMA-AMINOBUTYRIC-ACID | neurotransmitter | Ethylenediaminetetraacetic acid | Seizures (Medicine) | Diagnosis
Journal Article