Julia B. Hennermann

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

Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study

Friedrich K. Trefz, Barbara K. Burton, Nicola Longo et al. · The Journal of Pediatrics · 2009 · 192 citations

Pharmacy, Pediatrics, Pharmacotherapy +7

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

Sarah C. Grünert, S. Müllerleile, Linda De Silva et al. · Orphanet Journal of Rare Diseases · 2013 · 188 citations · Full text

Medicine, Endocrinology, Pediatrics +13

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch et al. · Journal of Medical Genetics · 2012 · 185 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Jordi Díaz‐Manera, Priya S. Kishnani, Hani Kushlaf et al. · The Lancet Neurology · 2021 · 184 citations · Full text

Veterinary Medicine, Internal Medicine, Pharmacotherapy +3