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- 2025
-
Mark
Gene therapy in advanced metachromatic leukodystrophy : tempering expectations
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Metachromatic Leukodystrophy : New Therapy Advancements and Emerging Research Directions
(
- Contribution to journal › Scientific review
-
Mark
Key lessons from the first international treatment eligibility committee : the case of metachromatic leukodystrophy
(
- Contribution to journal › Article
- 2017
-
Mark
Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation
(
- Contribution to journal › Article
- 2014
-
Mark
Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency
(
- Contribution to journal › Article
-
Mark
Impaired cognitive functioning in patients with tyrosinemia type i receiving nitisinone
(
- Contribution to journal › Article
- 2013
-
Mark
High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase
(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2011
-
Mark
Intracranial bleeding due to vitamin K deficiency : Advantages of using a pediatric intensive care registry
(
- Contribution to journal › Article
-
Mark
Metabolic profiles in children during fasting
(
- Contribution to journal › Article
- 2010
-
Mark
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation
(
- Contribution to journal › Article