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pro vyhledávání: '"Mohamad Fattah"'
Metachromatic leukodystrophy is an autosomal recessive neurodegenerative disorder that affects the central and peripheral nervous system and falls under the family of lysosomal storage diseases (LSDs). It is divided into three clinical forms (late in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2659::89aa06636b67666e89a661d0b8b989ce
https://zenodo.org/record/8036035
https://zenodo.org/record/8036035
Introduction: USP9X gene is located on the X-chromosome and encodes for an enzyme that regulates important substrates involved in neuronal growth and development. Thus, rare USP9X mutations were identified as directly causative of neurodevelopmental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2659::574fec645ff11abf4e081c87ba5c5ecc
https://zenodo.org/record/8035818
https://zenodo.org/record/8035818