Sietske H. Kevelam
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 15 publications
Author response: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).
Journal: Neurology
Published: May 03, 2017
Author response: Acute intermittent porphyria-related leukoencephalopathy.
Journal: Neurology
Published: February 15, 2017
Update on Leukodystrophies: A Historical Perspective and Adapted Definition.
Journal: Neuropediatrics
Published: August 27, 2016
Acute intermittent porphyria-related leukoencephalopathy.
Journal: Neurology
Published: February 25, 2016
Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).
Journal: Neurology
Published: January 13, 2016
Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.
Journal: Neuropediatrics
Published: December 01, 2015
Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.
Journal: Neuropediatrics
Published: November 05, 2015
Recessive ITPA mutations cause an early infantile encephalopathy.
Journal: Annals of neurology
Published: February 03, 2015
Altered PLP1 splicing causes hypomyelination of early myelinating structures.
Journal: Annals of clinical and translational neurology
Published: January 14, 2015
Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
Journal: Brain : a journal of neurology
Published: June 01, 2014
LAMA2 mutations in adult-onset muscular dystrophy with leukoencephalopathy.
Journal: Muscle & nerve
Published: June 17, 2013
Last Updated: 09/26/2026