Search engine for discovering works of Art, research articles, and books related to Art and Culture
Javascript must be enabled to continue!
Cerebrotendinous xanthomatosis revisited
View through CrossRef
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a prompt diagnosis can improve outcomes. We describe a patient with this condition who presented with progressive ataxia.
Title: Cerebrotendinous xanthomatosis revisited
Description:
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults.
It is treatable, and a prompt diagnosis can improve outcomes.
We describe a patient with this condition who presented with progressive ataxia.
Related Results
Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention
Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention
Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disorder caused by mutations in the CYP27A1 gene, leading to cholestanol accumulation in various tissues, including periphe...
Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis
Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis
ObjectiveThis study aims to analyze the clinical and genetic characteristics of cerebrotendinous xanthomatosis (CTX) in a Chinese family.MethodsClinical data, including medical his...
Cerebrotendinous xanthomatosis: a literature review and case study
Cerebrotendinous xanthomatosis: a literature review and case study
Cerebrotendinous xanthomatosis (CTX) is a rare but treatable inherited neurometabolic disorder that can lead to severe sequelae if left untreated. Chenodeoxycholic acid is a safe a...
Imaging of White Matter Lesions
Imaging of White Matter Lesions
Magnetic resonance imaging (MRI) is very sensitive for the detection of white matter lesions (WML), which occur even in normal ageing. Intrinsic WML should be separated from physio...
Ng revisited
Ng revisited
The point of departure for my artistic research project is the piece Ng, composed by me in 2014 for an ensemble of three musicians without instruments and three dancers. Having rea...
Highway 61 Revisited: Bob Dilan i francuski poststrukturalizam / Highway 61 Revisited: Bob Dilan and French Poststructuralism
Highway 61 Revisited: Bob Dilan i francuski poststrukturalizam / Highway 61 Revisited: Bob Dilan and French Poststructuralism
The main aim of this text is to show parallels between rock music and poststructuralist philosophy. As a case study one of the most celebrated rock albums of all times – Bob Dylan’...
The Scientific Revolution Revisited
The Scientific Revolution Revisited
The Scientific Revolution Revisited brings Mikuláš Teich back to the great movement of thought and action that transformed European science and society in the seventeenth century. ...
Postwar Revisited
Postwar Revisited
Okwui Enwezor's 2016 exhibition Postwar: Art between the Pacific and the Atlantic, 1945–1965 redefined the history of art produced in those two decades. Nearly a decade later, Post...