- Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions
- Lactic Acidosis in a Newborn With Adrenal Calcifications
- MITOCHONDRIAL ABNORMALITIES IN A NEWBORN WITH LACTIC ACIDOSIS AND ADRENAL CALCIFICATIONS
- Clinical and molecular phenotype of Aicardi-Goutieres syndrome
Aminoacylase I deficiency: a new inborn error of metabolism located in the protein degradation pathway of N-acetylated proeteins
2006) Proceedings of the International Child Neurology Congress. 1. p.259-262 Mark(
Aminoacylase I deficiency: A novel inborn error of metabolism
2005) BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 338(3). p.1322-1326 Mark(
- An infant with large amounts of several N-acetylated amino acids in the urine has aminoacylase 1 deficiency.
- Hydrocephaly and cobblestone lissencephaly in a preterm neonate
- Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb)
- A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.