34 results on '"Cassiman, David"'
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2. EXPLORE B: A prospective, long‐term natural history study of patients with acute hepatic porphyria with chronic symptoms
3. Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias
4. Ornithine transcarbamylase deficiency: A diagnostic odyssey
5. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
6. Sorbitol Is a Severity Biomarker for PMM2‐CDG with Therapeutic Implications
7. Patents vs patients 1‐0: The case of chenodeoxycholic acid
8. Relationship between de novo lipogenesis and serum sex hormone binding globulin in humans
9. Normal liver stiffness and influencing factors in healthy children: An individual participant data meta‐analysis
10. International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
11. NTCP deficiency and persistently raised bile salts: an adult case
12. On the Pathogenesis of Central Liver Nodules in Alagille Syndrome
13. ADAMTS5 deficiency protects against non-alcoholic steatohepatitis in obesity
14. Development of a Representative Mouse Model with Nonalcoholic Steatohepatitis
15. An Overview of Mouse Models of Nonalcoholic Steatohepatitis: From Past to Present
16. Bone demineralisation in a large cohort of Wilson disease patients
17. Hepatobiliary malignancies in Wilson disease
18. Histology obtained by needle biopsy gives additional information on the prognosis of hepatocellular carcinoma
19. Orphan Drugs for Rare Diseases: Grounds for Special Status
20. Alpers syndrome presenting with anatomopathological features of fulminant autoimmune hepatitis
21. Lysosomal lipid vacuoles in macrophages located in the colon
22. The hepatic vagus nerve stimulates hepatic stellate cell proliferation in rat acute hepatitis via muscarinic receptor type 2
23. Carbon monoxide produced by intrasinusoidally located haem-oxygenase-1 regulates the vascular tone in cirrhotic rat liver
24. Up-regulation of breast cancer resistance protein expression in hepatoblastoma following chemotherapy: A study in patients andin vitro
25. Cholestatic liver disease in long‐term infantile nephropathic cystinosis
26. Congenital veno‐venous malformations of the liver: Widely variable clinical presentations
27. Human hepatic progenitor cells express vasoactive intestinal peptide receptor type 2 and receive nerve endings
28. Neuroregulation of the neuroendocrine compartment of the liver
29. The correlation between portal myofibroblasts and development of intrahepatic bile ducts and arterial branches in human liver
30. Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients.
31. Patents vs patients 1-0: The case of chenodeoxycholic acid.
32. Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series.
33. Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease.
34. Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up.
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