Abstract |
|
Authors | D G Ramadan, R A Head, A Al-Tawari, Y Habeeb, M Zaki, F Al-Ruqum, G T N Besley, J E Wraith, R M Brown, G K Brown |
Journal | Journal of inherited metabolic disease
(J Inherit Metab Dis)
Vol. 27
Issue 4
Pg. 477-85
( 2004)
ISSN: 0141-8955 [Print] United States |
PMID | 15303005
(Publication Type: Case Reports, Journal Article)
|
Chemical References |
- Codon
- Codon, Nonsense
- DNA, Complementary
- PDHX protein, human
- Peptides
- Pyruvate Dehydrogenase Complex
- Glutamine
- Tryptophan
|
Topics |
- Acidosis, Lactic
(enzymology)
- Base Sequence
- Cells, Cultured
- Codon
(genetics)
- Codon, Nonsense
- Consanguinity
- DNA, Complementary
(chemistry)
- Female
- Fibroblasts
(enzymology)
- Glutamine
(genetics)
- Homozygote
- Humans
- Infant
- Infant, Newborn
- Kuwait
- Magnetic Resonance Imaging
- Peptides
(deficiency, genetics)
- Pyruvate Dehydrogenase Complex
(genetics)
- Syria
(ethnology)
- Tryptophan
(genetics)
|