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Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
STROKE is the third leading cause of death, and vascular dementia the second cause of dementia after Alzheimer's disease. CADASIL (for cerebral autosomal dominant arteriopathy with subcorticalExpand
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Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
BACKGROUND CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy) is commonly overlooked or misdiagnosed owing to its recent identification and itsExpand
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Assessment of biliary fibrosis by transient elastography in patients with PBC and PSC
Noninvasive measurement of liver stiffness with transient elastography has been recently validated for the evaluation of hepatic fibrosis in chronic hepatitis C. The current study assessed theExpand
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Biochemical response to ursodeoxycholic acid and long‐term prognosis in primary biliary cirrhosis
Biochemical response to ursodeoxycholic acid (UDCA) in patients with primary biliary cirrhosis (PBC) is variable. It has been recently proposed that an alkaline phosphatase (ALP) decline of more thanExpand
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Noninvasive elastography‐based assessment of liver fibrosis progression and prognosis in primary biliary cirrhosis
The development of liver fibrosis markers in primary biliary cirrhosis (PBC) is needed to facilitate the assessment of its progression and the effectiveness of new therapies. Here, we investigatedExpand
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Development of autoimmune hepatitis in patients with typical primary biliary cirrhosis
Primary biliary cirrhosis (PBC)–autoimmune hepatitis (AIH) overlap syndrome is a clinical entity characterized by the occurence of both conditions at the same time in the same patient. In addition toExpand
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Baseline values and changes in liver stiffness measured by transient elastography are associated with severity of fibrosis and outcomes of patients with primary sclerosing cholangitis.
BACKGROUND & AIMS Primary sclerosing cholangitis (PSC) is a chronic cholestatic disease that leads to extensive liver fibrosis and cirrhosis, which are associated with poor outcome. However, thereExpand
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Demographic, lifestyle, medical and familial factors associated with primary biliary cirrhosis.
BACKGROUND & AIMS Primary biliary cirrhosis (PBC) is believed to result from the interaction of genetic and environmental factors. The controlled studies aiming to assess risk factors for PBC areExpand
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Early primary biliary cirrhosis: biochemical response to treatment and prediction of long-term outcome.
BACKGROUND & AIMS The biochemical response to ursodeoxycholic acid (UDCA) in primary biliary cirrhosis (PBC) correlates with the long-term prognosis and thus could allow the identification of theExpand
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EASL Clinical Practice Guidelines: The diagnosis and management of patients with primary biliary cholangitis.
Primary biliary cholangitis (PBC) is a chronic inflammatory autoimmune cholestatic liver disease, which when untreated will culminate in end-stage biliary cirrhosis. Diagnosis is usually based on theExpand
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