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