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- 2014
-
Mark
Rare inborn errors of metabolism with movement disorders : a case study to evaluate the impact upon quality of life and adaptive functioning
(
- Contribution to journal › Article
- 2013
-
Mark
Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome
(
- Contribution to journal › Article
-
Mark
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease
(
- Contribution to journal › Article
- 2012
-
Mark
Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management
(
- Contribution to journal › Scientific review
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