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Author

J. Uusimaa

2 papers indexed here

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Sep 2026

Allogeneic haematopoietic stem cell transplantation in late-onset metachromatic leukodystrophy.

Comparing the long-term outcomes of the largest European cohort of HSCT-treated and untreated late-juvenile and adult MLD patients provides an evidence base for future comparison with innovative therapies and underscores the importance of early diagnosis and intervention.

D. Schoenmakers, M. Datema, Shanice Beerepoot et al. · 0 citations
Open access Sep 2026

The Batten disease protein CLN8 is a stereospecific acyltransferase in bis(monoacylglycero)phosphate biosynthesis

Loss-of-function mutations in the endoplasmic reticulum membrane protein CLN8 cause Batten disease, a neurodegenerative lysosomal storage disorder. CLN8 acts with the lysosomal enzyme CLN5 to produce bis(monoacylglycero)phosphate (BMP), a signature lysosomal phospholipid with unique S,S stereochemistry. However, the ro...

P. K. Sheokand, Denis Lacabanne, A. James et al. · 3 citations · ⚡1

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