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Mol Genet Metab

From Bioblast
Journals in Bioblast
Journal title and website Molecular Genetics and Metabolism


Dobrowolski 2022 Mol Genet MetabDobrowolski SF, Phua YL, Sudano C, Spridik K, Zinn PO, Wang Y, Bharathi S, Vockley J, Goetzman E (2022) Comparative metabolomics in the Pahenu2 classical PKU mouse identifies cerebral energy pathway disruption and oxidative stress. Genet Metab 136:38-45. PMID: 35367142 Open Access
Dobrowolski 2021 Mol Genet MetabDobrowolski SF, Sudano C, Phua YL, Tourkova IL, Spridik K, Goetzman ES, Vockley J, Blair HC (2021) Mesenchymal stem cell energy deficit and oxidative stress contribute to osteopenia in the Pahenu2 classical PKU mouse. Mol Genet Metab 132:173-79.2021PMID: 33602601 Open Access
Friederich 2021 Mol Genet MetabFriederich MW, Geddes GC, Wortmann SB, Punnoose A, Wartchow E, Knight KM, Prokisch H, Creadon-Swindell G, Mayr JA, Van Hove JLK (2021) Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. Mol Genet Metab 133:362-71.2021PMID: 34140213
Friederich 2019 Mol Genet MetabFriederich MW, Perez FA, Knight KM, Van Hove RA, Yang SP, Saneto RP, Van Hove JLK (2019) Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement. Mol Genet Metab 129:236-42.2019PMID: 31917109
Haas 2008 Mol Genet MetabHaas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK (2008) The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab 94:16-37.2008PMID: 18243024 Open Access
Deschauer 2006 Mol Genet MetabDeschauer M, Gizatullina Z, Schulze A, Pritsch M, Knรถppel C, Knape M, Zierz S, Gellerich FN (2006) Molecular and biochemical investigations in fumarase deficiency. Mol Genet Metab 88:146-52.2006PMID: 16510303