878 results on '"Cassiman, David"'
Search Results
2. Non-ceruloplasmin copper and urinary copper in clinically stable Wilson disease: Alignment with recommended targets
3. Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study
4. Quality of life of adult patients with hereditary fructose intolerance
5. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
6. Tracer metabolomics reveals the role of aldose reductase in glycosylation
7. Disorders of Bile Acid Synthesis
8. Trientine tetrahydrochloride versus penicillamine for maintenance therapy in Wilson disease (CHELATE): a randomised, open-label, non-inferiority, phase 3 trial
9. Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction
10. PPARγ lipodystrophy mutants reveal intermolecular interactions required for enhancer activation
11. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
12. Spleen Stiffness-Based Algorithms Are Superior to Baveno VI Criteria to Rule Out Varices Needing Treatment in Patients With Advanced Chronic Liver Disease.
13. Rare monogenic causes of steatotic liver disease masquerading as MASLD
14. Tacrolimus Drug Exposure Level and Smoking Are Modifiable Risk Factors for Early De Novo Malignancy After Liver Transplantation for Alcohol-Related Liver Disease
15. Brain function in classic galactosemia, a galactosemia network (GalNet) members review
16. Liver-Related and Cardiovascular Outcome of Patients Transplanted for Nonalcoholic Fatty Liver Disease: A European Single-Center Study
17. De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
18. Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients.
19. Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates
20. Fostering practice-oriented and use-inspired science in biomedical research
21. Estimating the broader fiscal consequences of acute hepatic porphyria (AHP) with recurrent attacks in Belgium using a public economic analytic framework
22. D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
23. Aberrant N-glycosylation in pathogenic variants of adenosine deaminase 2 underlying human ADA2 deficiency
24. Long-term outcome of transjugular intrahepatic portosystemic shunt for portal hypertension in autosomal recessive polycystic kidney disease
25. Ethyl Glucuronide in Hair Is an Accurate Biomarker of Chronic Excessive Alcohol Use in Patients With Alcoholic Cirrhosis
26. Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
27. Correction: The ribosomal RPL10 R98S mutation drives IRES-dependent BCL-2 translation in T-ALL
28. The ribosomal RPL10 R98S mutation drives IRES-dependent BCL-2 translation in T-ALL
29. Evidence for an alternative fatty acid desaturation pathway increasing cancer plasticity
30. Distinct immunometabolic signatures in circulating immune cells define disease outcomes in acute-on-chronic liver failure
31. Sequential BAVENO VI plus dedicated spleen stiffness measurement or a novel spleen-centered algorithm significantly enlarges non-invasive ruling out of high risk varices: results from an international derivation-validation cohort study
32. Plasma virome dynamics in chronic hepatitis B virus infected patients
33. Fulminant Wilson Disease in Children: Recovery After Plasma Exchange Without Transplantation
34. Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series
35. Dual loss of succinate dehydrogenase (SDH) and complex I activity is necessary to recapitulate the metabolic phenotype of SDH mutant tumors
36. Amino acid levels determine metabolism and CYP450 function of hepatocytes and hepatoma cell lines
37. Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients
38. Age Matching of Elderly Liver Grafts With Elderly Recipients Does Not Have a Synergistic Effect on Long-term Outcomes When Both Are Carefully Selected
39. Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease
40. Data from Repurposing the Antidepressant Sertraline as SHMT Inhibitor to Suppress Serine/Glycine Synthesis–Addicted Breast Tumor Growth
41. Supplementary Information from Repurposing the Antidepressant Sertraline as SHMT Inhibitor to Suppress Serine/Glycine Synthesis–Addicted Breast Tumor Growth
42. Supplementary Data from A Seven-Gene Set Associated with Chronic Hypoxia of Prognostic Importance in Hepatocellular Carcinoma
43. Data from A Seven-Gene Set Associated with Chronic Hypoxia of Prognostic Importance in Hepatocellular Carcinoma
44. Utility and prognostic value of diagnosing MAFLD in patients undergoing liver transplantation for alcohol‐related liver disease
45. Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up
46. Efficacy and safety of rosuvastatin therapy in children and adolescents with familial hypercholesterolemia: Results from the CHARON study
47. Measuring Rates of ATP Synthesis
48. Translatome analysis reveals altered serine and glycine metabolism in T-cell acute lymphoblastic leukemia cells
49. The quality of hereditary haemochromatosis guidelines: A comparative analysis
50. Trientine tetrahydrochloride versus penicillamine for maintenance therapy in Wilson disease (CHELATE): a randomised, open-label, non-inferiority, phase 3 trial
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