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3. Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing

4. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

10. PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

13. DTYMK is essential for genome integrity and neuronal survival

14. Pre- versus post-operative untargeted plasma nuclear magnetic resonance spectroscopy metabolomics of pheochromocytoma and paraganglioma

15. Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

17. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

19. Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients.

21. Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation

26. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

29. The P274S Mutation of Lecithin-Cholesterol Acyltransferase (LCAT) and Its Clinical Manifestations in a Large Kindred

30. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

34. Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.

36. PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening

37. A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

39. The genotypic and phenotypic spectrum of MTO1 deficiency

41. Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective

42. SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)

45. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

49. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

50. Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy

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