39 results on '"Dewulf, Joseph P."'
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2. A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
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3. Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study
4. Neurological presentations of inborn errors of purine and pyrimidine metabolism
5. DBS are suitable for 1,5-anhydroglucitol monitoring in GSD1b and G6PC3-deficient patients taking SGLT2 inhibitors to treat neutropenia
6. Disorders of Purine and Pyrimidine Metabolism Pyrimidine Metabolism Purin Metabolism
7. Disorders of purine biosynthesis metabolism
8. Unexplained Metabolic Acidosis: Alcoholic Ketoacidosis or Propylene Glycol Toxicity
9. Urine metabolomics links dysregulation of the tryptophan-kynurenine pathway to inflammation and severity of COVID-19
10. ECHDC1 knockout mice accumulate ethyl-branched lipids and excrete abnormal intermediates of branched-chain fatty acid metabolism
11. Human cytosolic transaminases: side activities and patterns of discrimination towards physiologically available alternative substrates
12. Deep Plasma Proteomics with Data-Independent Acquisition: Clinical Study Protocol Optimization with a COVID-19 Cohort.
13. Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium
14. Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency
15. Tacrolimus pharmacokinetics is associated with gut microbiota diversity in kidney transplant patients: results from a pilot cross‐sectional study
16. Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria
17. Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients
18. C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation
19. Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype causedby a novel pathogenic variant in ATIC gene
20. Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria
21. Tacrolimus Pharmacokinetics is Associated with Gut Microbiota Diversity in Kidney Transplant Patients: Results from a Pilot Cross‐Sectional Study.
22. Lactic acidosis after allogeneic haematopoietic stem cell transplantation potentially related to letermovir
23. Carnitine Deficiency after Long-Term Continuous Renal Replacement Therapy
24. HYGIEIA: HYpothesizing the Genesis of Infectious Diseases and Epidemics through an Integrated Systems Biology Approach
25. Le dépistage néonatal de l'amyotrophie spinale et les nouvelles thérapies associées
26. Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis
27. Le dépistage néonatal de l'amyotrophie spinale et les nouvelles thérapies associées
28. A fortuitous but characteristic blood smear observation allowing a late diagnosis of MPS-VII
29. Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria
30. Disorders of purine biosynthesis metabolism.
31. C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation
32. A fortuitous but characteristic blood smear observation allowing a late diagnosis of MPS-VII
33. Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria
34. A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in C2orf69
35. The synthesis of branched-chain fatty acids is limited by enzymatic decarboxylation of ethyl- and methylmalonyl-CoA
36. Ethylmalonyl-CoA decarboxylase (ECHDC1) prevents the synthesis of methyl- and ethyl-branched fatty acids
37. A fortuitous but characteristic blood smear observation allowing a late diagnosis of MPS-VII.
38. SLC13A3 variants cause acute reversible leukoencephalopathy and α‐ketoglutarate accumulation
39. SARS-CoV-2 causes a specific dysfunction of the kidney proximal tubule
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