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- 2008
-
Mark
Two patients with glutaric aciduria type I and infantile spasm
2008) Annual Symposium of the Society for the Study of Inborn Errors of Metabolism In Journal of Inherited Metabolic Disease 31(Supplement 1). p.16-16(
- Contribution to journal › Published meeting abstract
- 2007
-
Mark
Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance.
(
- Contribution to journal › Article
- 2006
-
Mark
Treatment with amino acids in serine deficiency disorders
(
- Contribution to journal › Article
- 2005
-
Mark
The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria
(
- Contribution to journal › Article
-
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
-
Mark
Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood
(
- Contribution to journal › Article
-
Mark
Energy expenditure in patients with propionic and methylmalonic acidaemias
(
- Contribution to journal › Article
- 2002
-
Mark
Plasma pipecolic acid is frequently elevated in non-peroxisomal disease
(
- Contribution to journal › Article
-
Mark
Glutaric aciduria type III : A distinctive non-disease?
(
- Contribution to journal › Article