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- 2019
-
Mark
Identification of human D lactate dehydrogenase deficiency
(
- Contribution to journal › Article
- 2016
-
Mark
Inborn Errors of Metabolism That Cause Sudden Infant Death : A Systematic Review with Implications for Population Neonatal Screening Programmes
(
- Contribution to journal › Scientific review
- 2014
-
Mark
Impaired cognitive functioning in patients with tyrosinemia type i receiving nitisinone
(
- Contribution to journal › Article
- 2013
-
Mark
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency
(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2012
-
Mark
Vitamin B6 Vitamer concentrations in cerebrospinal fluid differ between preterm and termnewborn infants
(
- Contribution to journal › Article
- 2011
-
Mark
Metabolic profiles in children during fasting
(
- Contribution to journal › Article
- 2010
-
Mark
Whole body composition analysis by the BodPod air-displacement plethysmography method in children with Phenylketonuria shows a higher body fat percentage
(
- Contribution to journal › Article
- 2009
-
Mark
Reply
(
- Contribution to journal › Letter
- 2008
-
Mark
Yield of additional metabolic studies in neurodevelopmental disorders
(
- Contribution to journal › Article