79 results on '"Cassiman, David"'
Search Results
2. Quality of life of adult patients with hereditary fructose intolerance
3. Tracer metabolomics reveals the role of aldose reductase in glycosylation
4. Distinct immunometabolic signatures in circulating immune cells define disease outcomes in acute-on-chronic liver failure
5. 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
6. Trientine tetrahydrochloride versus penicillamine for maintenance therapy in Wilson disease (CHELATE): a randomised, open-label, non-inferiority, phase 3 trial
7. Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction
8. Uncovering monocyte transcription, functional and metabolic signatures in recovery and non-recovery ACLF patients
9. Clinical utility of non-ceruloplasmin copper determined by copper speciation for monitoring Wilson disease therapy: comparative data analysis with 24-hour urinary copper excretion from the CHELATE trial
10. CLINICAL AND BIOCHEMICAL FOOTPRINTS OF INHERITED METABOLIC DISORDERS: A LESSON FROM THE KNOWLEDGEBASE
11. Overlapping and divergent hepatic and lipoprotein phenotypes in untreated adults with acid sphingomyelinase deficiency versus untreated adults with Gaucher disease from two pivotal clinical trials
12. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
13. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
14. Liver-Related and Cardiovascular Outcome of Patients Transplanted for Nonalcoholic Fatty Liver Disease: A European Single-Center Study
15. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
16. De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
17. Galactokinase deficiency: lessons from the GalNet registry
18. Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates
19. Kidney and vascular function in adult patients with hereditary fructose intolerance
20. Dietary plant stanol ester supplementation reduces peripheral symptoms in a mouse model of Niemann-Pick type C1 disease
21. Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis
22. Su1503 RANGE OF NORMAL LIVER STIFFNESS AND FACTORS ASSOCIATED WITH INCREASED STIFFNESS MEASUREMENTS IN APPARENTLY HEALTHY CHILDREN: AN INDIVIDUAL PATIENT DATA META-ANALYSIS
23. SGLT2 Inhibitors for Treatment of Refractory Hypomagnesemia: A Case Report of 3 Patients
24. Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations
25. m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity
26. Fostering practice-oriented and use-inspired science in biomedical research
27. Obstructive sleep apnea in Hutchinson-Gilford progeria
28. Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases
29. Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
30. The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG
31. LBP-36-Inhibition of glutamine synthetase in monocytes from patients with Acute-on-Chronic Liver Failure resuscitates their antibacterial and inflammatory capacity
32. Corrigendum to “Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases” [Mol. Genet. Metab. 118 (2016) 206–213]
33. Cobalamin C Deficiency Induces a Typical Histopathological Pattern of Renal Arteriolar and Glomerular Thrombotic Microangiopathy
34. Long-term outcome of transjugular intrahepatic portosystemic shunt for portal hypertension in autosomal recessive polycystic kidney disease
35. Unusual yellow scaly colonic mucosal appearance: Tangier disease
36. Renal involvement in PMM2-CDG, a mini-review
37. Ethyl Glucuronide in Hair Is an Accurate Biomarker of Chronic Excessive Alcohol Use in Patients With Alcoholic Cirrhosis
38. Disease severity scoring system for acid sphingomyelinase deficiency: Severity score domains and components
39. Liver disease in cystic fibrosis presents as non-cirrhotic portal hypertension.
40. Proton Pump Inhibitors Decrease Phlebotomy Need in HFE Hemochromatosis: Double-Blind Randomized Placebo-Controlled Trial
41. Liver disease in cystic fibrosis presents as non-cirrhotic portal hypertension
42. Dual loss of succinate dehydrogenase (SDH) and complex I activity is necessary to recapitulate the metabolic phenotype of SDH mutant tumors
43. Fertility in adult women with classic galactosemia and primary ovarian insufficiency
44. Liver failure after long-limb gastric bypass
45. Identification of survival-promoting OSIP108 peptide variants and their internalization in human cells
46. Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases
47. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype
48. Cause of death in patients with attenuated acid sphingomyelinase deficiency: Comprehensive literature review and report of new cases
49. Efficacy and safety of rosuvastatin therapy in children and adolescents with familial hypercholesterolemia: Results from the CHARON study
50. Association of Adipose Tissue Inflammation With Histologic Severity of Nonalcoholic Fatty Liver Disease
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.