6533b86ffe1ef96bd12cd0b7

RESEARCH PRODUCT

Mucopolysaccharidosis Type VII (Sly disease) survivors

Michael BeckCatharina WhybraEugen MengelLaila ArashChristoph KampmannNesrin Karabul

subject

Pediatricsmedicine.medical_specialtyDisease onsetbusiness.industryEndocrinology Diabetes and MetabolismEpileptic encephalopathyMucopolysaccharidosisLiver failuremedicine.diseaseBiochemistryEndocrinologyMiglustatGeneticsmedicineSly diseaseSlow disease progressionbusinessMolecular Biologymedicine.drug

description

treatment. Onset of neurological symptoms at age 8 and in adolescence. Pair 4: L.M. died at age 5 months due to liver failure. P.M. (7 years): earlyinfantile form, despite treatment start at age 2 progressive neurological deterioration. Pair 5: R.K.: late-infantile form, untreated, died at age 9 due to progressive neurological involvement. M.K.: late infantileform, start of treatment at age 5, died at age 13 due to epileptic encephalopathy. These cases reveal that disease onset and progression in siblings with NPC vary, and that miglustat can slow disease progression.

yearjournalcountryeditionlanguage
2013-02-01Molecular Genetics and Metabolism
https://doi.org/10.1016/j.ymgme.2012.11.024