Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
NEJM 391:1256-1258, Laugwitz,L.,et al, 2024
A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
Front Neurol doi.10.3398/jneur.2017.00108, Piroth,T.,et al, 2017
Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014
"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
Neurol 77:522-523, Kwon, J.M.et al, 2011
Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Bone-Marrow Transplantation for Neurovisceral Storage Disorders
Editorial, Lancet 2:788-7891986., , 1986
Enzyme Replacement in Nervous Tissue After Allogeneic Bone-Marrow Transplantation for Fucosidoisis in Dogs
Lancet 2:772-774, Taylor,R.M.,et al, 1986
Inborn Errors of Metabolism
Ann Neurol 11:221-232, Kolodny,E.H.,et al, 1982