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- 2019
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Mark
Recommendations for patient screening in ultra-rare inherited metabolic diseases : What have we learned from Niemann-Pick disease type C?
(
- Contribution to journal › Scientific review
- 2017
-
Mark
Roscoe Owen Brady, MD : Remembrances of co-investigators and colleagues
(
- Contribution to journal › Article
- 2015
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Mark
Neurological Aspects of Human Glycosylation Disorders
(
- Contribution to journal › Scientific review
-
Mark
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C : an observational cohort study
(
- Contribution to journal › Article
- 2012
-
Mark
Neurology of inherited glycosylation disorders
(
- Contribution to journal › Scientific review
- 2009
-
Mark
Recommendations on the diagnosis and management of Niemann-Pick disease type C
(
- Contribution to journal › Debate/Note/Editorial