Barbara Plecko

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Philippa B. Mills, Eduard A. Struys, Cornelis Jakobs et al. · Nature Medicine · 2006 · 547 citations

Medicine, Neurology, Neuroscience +11

Defective Remodeling of Cardiolipin and Phosphatidylglycerol in Barth Syndrome

P. Vreken, Fredoen Valianpour, Leo Nijtmans et al. · Biochemical and Biophysical Research Communications · 2000 · 372 citations

Life Sciences, Biochemistry, Pathology +13

Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

Paul Harmatz, Chester B. Whitley, Lewis Waber et al. · The Journal of Pediatrics · 2004 · 274 citations

Life Sciences, Biochemistry, Genetics +10

CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL

Paulina Bartuzi, Daniel D. Billadeau, Robert P. Favier et al. · Nature Communications · 2016 · 231 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Treatment recommendations in long‐chain fatty acid oxidation defects: consensus from a workshop

Ute Spiekerkoetter, Martin Lindner, René Santer et al. · Journal of Inherited Metabolic Disease · 2009 · 223 citations

Life Sciences, Biochemistry, Metabolism +11