1,333 results on '"Wevers, Ron"'
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2. A framework for evaluating long-term impact of newborn screening
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
5. Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics
6. Correction: A framework for evaluating long-term impact of newborn screening
7. Disorders of Peptide and Amine Metabolism Peptide metabolism disorders
8. Untargeted Metabolomics: Next-Generation Metabolic Screening
9. Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns
10. PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
11. Lactate infusion as therapeutical intervention: a scoping review
12. Huppke–Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N‐acetylcysteine.
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
16. Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II
17. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
18. Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment
19. Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients.
20. The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role
21. Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation
22. Evaluation of cyclooxygenase oxylipins as potential biomarker for obesity-associated adipose tissue inflammation and type 2 diabetes using targeted multiple reaction monitoring mass spectrometry
23. CLPB (caseinolytic peptidase B homolog), the first mitochondrial protein refoldase associated with human disease
24. Infrared ion spectroscopy: New opportunities for small-molecule identification in mass spectrometry - A tutorial perspective
25. CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers
26. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
27. Peripheral decarboxylase inhibitors paradoxically induce aromatic L-amino acid decarboxylase
28. Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism
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
31. Reference-standard free metabolite identification using infrared ion spectroscopy
32. Movement disorders in cerebrotendinous xanthomatosis
33. Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder
34. Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
35. Correction: A framework for evaluating long-term impact of newborn screening
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
38. A framework for evaluating long-term impact of newborn screening
39. The genotypic and phenotypic spectrum of MTO1 deficiency
40. Evaluation of chitotriosidase as a biomarker for adipose tissue inflammation in overweight individuals and type 2 diabetic patients
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)
43. Trimethylaminuria, Dimethylglycine Dehydrogenase Deficiency and Disorders in the Metabolism of Glutathione
44. A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios
45. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
46. metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes
47. Correction to: A comparison of high‑throughput plasma NMR protocols for comparative untargeted metabolomics
48. A comparison of high-throughput plasma NMR protocols for comparative untargeted metabolomics
49. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
50. A Mutation in the Human Ortholog of the Saccharomyces cerevisiae ALG6 Gene Causes Carbohydrate-Deficient Glycoprotein Syndrome Type-Ic
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