G. P. A. Smit
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Glycogen Storage Diseases and Myoclonus, Mitochondrial Function and Pathology, Diet and metabolism studies, Carbohydrate Chemistry and Synthesis
Most-Cited Works
- → Liver transplantation for glycogen storage disease types I, III, and IV(1999)187 cited
- → Impaired prenatal and postnatal growth in Dutch patients with phenylketonuria. The National PKU Steering Committee.(1994)84 cited
- → Mevalonic aciduria: an inborn error of cholesterol biosynthesis?(1985)81 cited
- → Absence of hepatic molybdenum cofactor: An inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase(1983)76 cited
- → Type Iiib Glycogen Storage Disease Associated With End–Stage Cirrhosis and Hepatocellular Carcinoma(1997)72 cited
- → Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis(1999)64 cited
- → Neonatal screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency(2008)62 cited
- → Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome(1987)35 cited
- → A patient with lethal cardiomyopathy and a carnitine — acylcarnitine translocase deficiency(1995)33 cited
- → Does impaired growth of PKU patients correlate with the strictness of dietary treatment?(1997)30 cited