Brown–Vialetto–van Laere and Fazio–Londe overlap syndromes: A clinical, biochemical and genetic study

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

Life Sciences, Bioinformatics, Molecular Biology +15

Fully automated assay for total homocysteine, cysteine, cysteinylglycine, glutathione, cysteamine, and 2-mercaptopropionylglycine in plasma and urine

Anna Pastore, Renato Massoud, Corradino Motti et al. · Clinical Chemistry · 1998 · 242 citations · Full text

Life Sciences, Biochemistry, Biochemical Pharmacology +10

Brown‐Vialetto‐Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

Annet M. Bosch, N. G. G. M. Abeling, Lodewijk IJlst et al. · Journal of Inherited Metabolic Disease · 2010 · 241 citations · Full text

Life Sciences, Biochemistry, Pediatrics +17

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

Peter Green, Matthew Wiseman, Yanick J. Crow et al. · The American Journal of Human Genetics · 2010 · 196 citations · Full text

Medicine, Neurology, Neuroscience +9

Oxidized Forms of Glutathione in Peripheral Blood as Biomarkers of Oxidative Stress

Ranieri Rossi, Isabella Dalle‐Donne, Aldo Milzani et al. · Clinical Chemistry · 2006 · 151 citations · Full text

Life Sciences, Biochemistry, Analytical Toxicology +15