Purpose: To summarize the evidence regarding screening, diagnosis, and treatment of early-infantile Krabbe disease in consideration of its addition to the core panel for newborn screening as has been ...
Krabbe disease is a rare genetic disorder in which a person lacks an enzyme that breaks down specific lipids. The lipid buildup progressively destroys the nervous system, causing neurological symptoms ...
The twitcher mouse is a natural model of Krabbe disease caused by galactocerebrosidase (GALC) deficiency. Previous attempts at rescuing the twitcher mouse by bone marrow transplantion, viral ...
Named after the Danish neurologist Knud Krabbe, Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that ...
Krabbe disease (globoid cell leukodystrophy; OMIM #245200) is a rapidly progressive, fatal neurodegenerative disorder caused by a deficiency of galactocerebrosidase (GALC; EC 3.2.1.46). Patients with ...
Rep. Brian Higgins visited the New York State Center of Excellence in Bioinformatics and Life Sciences on Monday to announce more than $2 million in National Institutes of Health funding to the Hunter ...
Early infantile Krabbe disease is rapidly fatal, but hematopoietic stem cell transplantation (HSCT) may improve outcomes if performed soon after birth. New York State began screening all newborns for ...
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