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- 2007
-
Mark
Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance.
(
- Contribution to journal › Article
- 2005
-
Mark
Ornithine aminotransferase deficiency : Diagnostic difficulties in neonatal presentation
(
- Contribution to journal › Article
- 2004
-
Mark
Glutathione synthetase deficiency associated with antenatal cerebral bleeding
(
- Contribution to journal › Article
- 2002
-
Mark
Plasma pipecolic acid is frequently elevated in non-peroxisomal disease
(
- Contribution to journal › Article
-
Mark
Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency : Outcome of treatment with amino acids
(
- Contribution to journal › Article