Barbara Plecko

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Philippa B. Mills, Eduard A. Struys, Cornelis Jakobs et al. · Nature Medicine · 2006 · 542 citations

Pyridoxine-dependent Seizures, Genetic Disorder, Medicine +3

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

Metabolic Syndrome, Defective Remodeling, Cardiomyopathy +8

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

Paul Harmatz, Chester B. Whitley, Lewis Waber et al. · The Journal of Pediatrics · 2004 · 273 citations

Rare Diseases, Enzyme Replacement Therapy, Genetic Disorder +5

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 · 228 citations · Full text

Clinical Course, Early Diagnosis, Treatment, and Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency

G. F. Hoffmann, S. Athanassopoulos, A Burlina et al. · Neuropediatrics · 1996 · 227 citations