| Reference | Published | View |
---|
Dobrowolski 2022 Mol Genet Metab | Dobrowolski 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. https://doi.org/10.1016/j.ymgme.2022.03.004 | 2022 | Mol Genet Metab 136:38-45. PMID: 35367142 Open Access |
Dobrowolski 2021 Mol Genet Metab | Dobrowolski 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. | 2021 | PMID: 33602601 Open Access |
Friederich 2021 Mol Genet Metab | Friederich 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. | 2021 | PMID: 34140213 |
Friederich 2019 Mol Genet Metab | Friederich 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. | 2019 | PMID: 31917109 |
Haas 2008 Mol Genet Metab | Haas 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. | 2008 | PMID: 18243024 Open Access |
Deschauer 2006 Mol Genet Metab | Deschauer M, Gizatullina Z, Schulze A, Pritsch M, KnΓΆppel C, Knape M, Zierz S, Gellerich FN (2006) Molecular and biochemical investigations in fumarase deficiency. Mol Genet Metab 88:146-52. | 2006 | PMID: 16510303 |