R. Surtees
dataPartner (Czechia)(CZ)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Folate and B Vitamins Research, Amino Acid Enzymes and Metabolism, Mitochondrial Function and Pathology, Diet and metabolism studies
Most-Cited Works
- → Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members(2009)379 cited
- → Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria.(1993)253 cited
- → Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway(1991)234 cited
- → Physiology and pathophysiology of organic acids in cerebrospinal fluid(1993)189 cited
- → The effect of genotype on the natural history of eIF2B-related leukodystrophies(2004)166 cited
- → GAMT deficiency(2006)157 cited
- → Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?(1997)149 cited
- → Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)(2007)145 cited
- → Neurological outcome of methylmalonic acidaemia(1998)132 cited
- → Dopa‐responsive dystonia: A clinical and molecular genetic study(1998)125 cited