She is chair of the "Erfocentrum" board, treasurer of the European Study Group on Lysosomal Diseases, and involved in activities of the European Working Group on Gaucher Disease and the Adult Metabolic Group for the Society for the Study of Inborn Errors [books.google.de]

Disease Niemann-Pick Disease Krabbe Disease Mucolipidoses Mucopolysaccharidoses Mitochondrial Disorders Mitochondrial cardiomyopathies Leigh disease MELAS, MERRF, NARP Barth syndrome Peroxisomal Disorders Zellweger Syndrome (cerebrohepatorenal syndrome [kennedykrieger.org]

“Myoclonic Epilepsy in Gaucher Disease: Genotype-phenotype Insights from a Rare Patient Subgroup,” Pediatric Research, Vol. 53, No. 3, 2003, pp. 387-395. [ 31 ] M. Sevin, G. Lesca, N. [scirp.org]

Examples of lysosomal disorders include Tay-Sachs disease, metachromatic leukodystrophy, Krabbe disease, Fabry disease, Gaucher disease, Farber disease, and Niemann-Pick disease. [britannica.com]

One form, acute intermittent porphyria, causes attacks of acute abdominal or limb pain, weakness due to peripheral neuropathy, epileptic seizures, confusion, and increased pigmentation of the skin with abnormal sensitivity to sunlight. [britannica.com]