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Your search keyword '"Bosch, A M"' showing total 29 results

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29 results on '"Bosch, A M"'

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3. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

7. Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands

8. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

17. Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: what to aim, expect and evaluate from newborn screening?

19. Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

20. A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands

21. Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency : A retrospective and laboratory cohort study

22. Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

23. A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands

24. Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study

25. Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

26. Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

29. Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study

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