| 000 | 01494 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250514155623.0 | ||
| 264 | 0 | _c20040430 | |
| 008 | 200404s 0 0 eng d | ||
| 022 | _a0141-8955 | ||
| 024 | 7 |
_a10.1023/a:1025125427868 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aYano, S | |
| 245 | 0 | 0 |
_aInfantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _c2003 |
||
| 300 |
_a481-8 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aCarbon-Carbon Ligases _xdeficiency |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDNA, Mitochondrial _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMethylmalonic Acid _xurine |
| 650 | 0 | 4 |
_aMitochondrial Diseases _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPropionic Acidemia |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aLi, L | |
| 700 | 1 | _aLe, T P | |
| 700 | 1 | _aMoseley, K | |
| 700 | 1 | _aGuedalia, A | |
| 700 | 1 | _aLee, J | |
| 700 | 1 | _aGonzalez, I | |
| 700 | 1 | _aBoles, R G | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 26 _gno. 5 _gp. 481-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1023/a:1025125427868 _zAvailable from publisher's website |
| 999 |
_c14279128 _d14279128 |
||