Nicole Muschol

Scoring Evaluation of the Natural Course of Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A)

Ann Meyer, Kai Kossow, Andreas Gal et al. · PEDIATRICS · 2007 · 115 citations

Medicine, Pathology, Pediatrics +9

Effects of cholesterol and simvastatin treatment in patients with Smith–Lemli–Opitz syndrome (SLOS)

Dorothea Haas, Sven F. Garbade, Christine U. Vohwinkel et al. · Journal of Inherited Metabolic Disease · 2007 · 73 citations

Pharmacy, Pharmacotherapy, Cardiovascular Pharmacotherapy +8

Long‐term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

Christina Lampe, Ann‐Kathrin Bosserhoff, Barbara K. Burton et al. · Journal of Inherited Metabolic Disease · 2014 · 71 citations · Full text

Life Sciences, Pharmacology, Pharmacotherapy +14

Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS)

Malte Lenders, Peter Nordbeck, Christine Kurschat et al. · Clinical Pharmacology & Therapeutics · 2020 · 68 citations

Life Sciences, Pharmacology, Pharmacotherapy +17

Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation

Mona Wanda Schmidt, Sandra Breyer, Ulrike Löbel et al. · Orphanet Journal of Rare Diseases · 2016 · 65 citations · Full text

Medicine, Orthopaedic Surgery, Orthopedic Surgery +17