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2. Impact of age at onset and newborn screening on outcome in organic acidurias

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6. Development of Nanobodies Against Hemorrhagic and Myotoxic Components of Bothrops atrox Snake Venom

11. External fixation in hallux abducto valgus surgery

16. Randomised controlled trial of L-carnitine as a nutritional supplement in preterm infants.

17. Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.

18. Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

19. Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

20. Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.

21. The complete European guidelines on phenylketonuria: diagnosis and treatment.

22. Key European guidelines for the diagnosis and management of patients with phenylketonuria.

23. Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

24. Impact of age at onset and newborn screening on outcome in organic acidurias.

26. Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.

27. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

28. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

29. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

30. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

31. Newborn screening for homocystinuria.

32. Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin.

33. Newborn screening for homocystinuria.

34. The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy.

35. Newborn screening for homocystinuria.

36. MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation.

37. Vitamin B12 deficiency and phenylketonuria.

38. Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

40. Genes, patients, families, doctors-mutation analysis in clinical practice.

41. Tolerance to fast: rational and practical evaluation in children with hypoketonaemia.

42. Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study.

43. Costeff optic atrophy syndrome: new clinical case and novel molecular findings.

44. Amnionless (AMN) mutations in Imerslund-Gräsbeck syndrome may be associated with disturbed vitamin B12 transport into the CNS.

45. N-carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia.

46. Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.

47. Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.

48. Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants.

49. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.

50. Clinical approach to treatable inborn metabolic diseases: an introduction.