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- 2024
-
Mark
Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management
(
- 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
- 2012
-
Mark
The proline/citrulline ratio as a biomarker for OAT deficiency in early infancy
(
- 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
- 2008
-
Mark
Yield of additional metabolic studies in neurodevelopmental disorders
(
- Contribution to journal › Article