Concept

Krabbe disease

Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern. The disease is named after the Danish neurologist Knud Krabbe (1885–1961). Symptoms in asymptomatic infantile-onset (

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https://en.wikipedia.org/wiki/Krabbe_disease

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Official source

https://en.wikipedia.org/wiki/Krabbe_disease

About this result

Related courses (1)

HUM-388: Personalized health: biomedical & social challenge

Related lectures (1)

Protein Therapeutics: Blood Proteins and Enzymes

Explores blood composition, proteins, coagulation, diseases treated with enzymes, and case studies on genetic disorders.

Related publications (8)

Towards Conformational Targeting of Alpha-Synuclein Fibrils

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MDPI AG2025

PAoS Markers: Trajectory Analysis of Selective Phonological Posteriors for Assessment of Progressive Apraxia of Speech

2016

Related people (3)

Paul Joseph Dyson

Paul Dyson joined the Institute of Chemical Sciences and Engineering at the EPFL in 2002 where he heads the Laboratory of Organometallic and Medicinal Chemistry and between 2008 and 2016 chaired the Institute. He has won several prizes including the Werner Prize of the Swiss Chemical Society in 2004, the Award for Outstanding Achievements in Bioorganometallic Chemistry in 2010, the Centennial Luigi Sacconi Medal of the Italian Chemical Society in 2011, the Bioinorganic Chemistry Award of the Royal Society of Chemistry in 2015, the European Sustainable Chemistry Award of the European Chemical Society in 2018 and the Green Chemistry Award from the Royal Society of Chemistry in 2020. He is also a Clarivate Highly Cited Researcher and has an H-index >110 (web of science and google scholar). He was elected a Fellow of the Royal Society of Chemistry in 2010, a Fellow of the European Academy of Science in 2019 and a life-long fellow of the American Association for the Advancement of Science in 2020. Over the years he has held visiting professorships at the University of Bourgogne, University of Pierre et Marie Curie, University of Vienna, University of Rome Tor Vergara, Chimie Paristech and Shangai Jiao Tong University.Since 2016 he has been Member of the Council of the Division of Mathematics, Natural and Engineering Sciences at the Swiss National Science Foundation.Between 2016-2021 he has been Member of the Council of the Division of Mathematics, Natural and Engineering Sciences at the Swiss National Science Foundation. In 2021 he was appointed Dean of the Faculty of Basic Sciences.

Alexandre Cionca

Rolf Gruetter

Awards: 1999 Young Investigator Award Plenary Lectureship , International Society for Neurochemistry 2011 Fellow , ESMRMB 2011 Teaching Award , Section Sciences de la Vie, EPFL