| P50 | author | Rita Horvath | Q28321921 |
| | Ulrike Koehl | Q44365288 |
| | Janine Reichenbach | Q58401235 |
| P2093 | author name string | Jens Petersen | |
| | Burkhart Schraven | |
| | Ralf Schubert | |
| | Stefan Zielen | |
| | Andreas Stumpf | |
| | Boris R Gebhardt | |
| | Nancy Fütterer | |
| | Elisabeth Malle | |
| P2860 | cites work | Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder | Q22008732 |
| | Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency | Q24317097 |
| | Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion | Q24530876 |
| | Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency | Q24533500 |
| | The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA | Q28203048 |
| | Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy | Q28203066 |
| | Mitochondrial respiratory-chain diseases | Q29614474 |
| | Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. | Q34147661 |
| | Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy | Q34263470 |
| | Clinical spectrum and diagnosis of mitochondrial disorders | Q34386724 |
| | Antenatal manifestations of mitochondrial respiratory chain deficiency | Q35217360 |
| | Mitochondrial disorders: prevalence, myths and advances. | Q35800518 |
| | Mitochondrial encephalomyopathies: an update | Q36081150 |
| | Disorders of nuclear-mitochondrial intergenomic signaling | Q36142300 |
| | Craniofacial anomalies and malformations in respiratory chain deficiency | Q41927475 |
| | IL-2 activated NK cell immunotherapy of three children after haploidentical stem cell transplantation | Q44365247 |
| | Mutation analysis in 16 patients with mtDNA depletion. | Q44375076 |
| | Effects of of didanosine-related depletion of mtDNA in human T lymphocytes | Q45270631 |
| | POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion | Q46178330 |
| | A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. | Q48378855 |
| | Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. | Q49085097 |
| | Longitudinal survey of lymphocyte subpopulations in the first year of life. | Q52027801 |
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 321-326 | |
| P577 | publication date | 2006-07-20 | |
| P1433 | published in | Pediatric Research | Q7159215 |
| P1476 | title | Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency | |
| P478 | volume | 60 | |