1 A Acad Neur
2 A Neur A
3 Abnormailities of growth factors on congenital disorders of glycosylation.
4 Appearance in Mystery Diagnosis; Season 7, Ep. 4: The Girl Who Fell Apart (Pompe disease)
5 Chair
6 Clinical trial of miglustat in children with Niemann-Pick disease, type C.
7 Consensus paper on management of NPC
8 Immune-mediated encephalopathy in a child.
9 Interview on CBS News: Mayo Patient with Niemann-Pick disease, type C. Available online at: http://sharing.mayoclinic.org/2009/03/03/cbs-news-features-mayo-patient-with-niemann-pick-disease-type-c/
10 Late presentation of a mitochondrial mutation.
11 Long term results of transplantation for Krabbe disease.
12 Member
13 Neuroimaging fidnigs in a rare genetic syndrome.
14 Newborn screening for Krabbe disease
15 Observational study of NPC.
16 Overview of research data on cyclodextrin in NPC animal models
17 Professor of Clinical Neurology and Pediatrics
18 Professor of Neurology, Pediatrics and Medical Genetics
19 Retrospective study of miglustat in NPC.
20 Review of NPC
21 Specialized study of tremor and associated movement disorders in NPC.
22 Story of a family with CDG1a diagnosed and treated by Marc Patterson, MD
23 Synopsis of Niemann-Pick disease, type C