Mercè Pineda

Recommendations on the diagnosis and management of Niemann-Pick disease type C

J. E. Wraith, Matthias R. Baumgartner, Bruno Bembi et al. · Molecular Genetics and Metabolism · 2009 · 232 citations

Urology, Medicine, Inherited Metabolic Disease +4

Coenzyme Q deficiency triggers mitochondria degradation by mitophagy

Mario D. Cordero, Leonardo Salviati, Rafael Artuch et al. · Autophagy · 2009 · 191 citations · Full text

Disease and patient characteristics in NP-C patients: findings from an international disease registry

Marc C. Patterson, Eugen Mengel, Frits A. Wijburg et al. · Orphanet Journal of Rare Diseases · 2013 · 190 citations · Full text

Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis

Leo W. J. Klomp, Tom J. de Koning, Helga E.M. Malingré et al. · The American Journal of Human Genetics · 2000 · 109 citations · Full text

Reduced L-serine Biosynthesis, Molecular Characterization, Aldehyde Dehydrogenase +6

Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

Rafael Artuch, Gloria Brea‐Calvo, Paz Briones et al. · Journal of the Neurological Sciences · 2006 · 99 citations

Coenzyme Q10 Supplementation, Neurology, Cerebellar Ataxia +3