Epilepsy in children with methylmalonic acidemia: Electroclinical features and prognosis

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009

Anne T. Berg, Samuel F. Berkovic, Martin J. Brodie et al. · Epilepsia · 2010 · 4.4K citations

Medicine, Neurology, Neuroscience +17

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

Jordan Lerner‐Ellis, Jamie C. Tirone, Peter D. Pawelek et al. · Nature Genetics · 2005 · 376 citations

Life Sciences, Genetics, Molecular Genetics +7

Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB)

Friederike Hörster, Matthias R. Baumgartner, Caroline Viardot et al. · Pediatric Research · 2007 · 233 citations

Life Sciences, Genetics, Molecular Genetics +10

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)

D. S. Rosenblatt, Anne Aspler, Michael Shevell et al. · Journal of Inherited Metabolic Disease · 1997 · 218 citations

Medicine, Internal Medicine, Nephrology +8

Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: A four‐year report

Lianshu Han, J. Ye, Wenjuan Qiu et al. · Journal of Inherited Metabolic Disease · 2007 · 94 citations

Life Sciences, Biochemistry, Mass Spectrometric Analysis +16