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Dictionnaire français - anglais

oligophrénie polydystrophique de Lamy-Maroteaux

mucopolysaccharidosis type III

santé - iate.europa.eu

Publications scientifiques

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Blood-brain barrier impairment in an animal model of mps iii bSanfilippo syndrome type B (MPS III B) is caused by a deficiency of α-N-acetylglucosaminidase enzyme, leading to accumulation of heparan sulfate within lysosomes and eventual ...

général - core.ac.uk -

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Blood-brain barrier impairment in an animal model of mps iii b.BACKGROUND: Sanfilippo syndrome type B (MPS III B) is caused by a deficiency of α-N-acetylglucosaminidase enzyme, leading to accumulation of heparan sulfate within lysosomes and eventual ...

général - core.ac.uk - PDF: doaj.org

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The attenuated end of the phenotypic spectrum in mps iii: from late-onset stable cognitive impairment to a non-neuronopathic phenotype... Mucopolysaccharidosis type III (Sanfilippo syndrome, MPS III), is a lysosomal storage disorder traditionally considered to be characterized by childhood onset, progressive neurocognitive...

général - core.ac.uk - PDF: repub.eur.nl

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Symptoms of autism spectrum disorder (asd) in individuals with mucopolysaccharide disease type iii (sanfilippo syndrome): a systematic reviewThe prevalence of autism spectrum disorder (ASD) in many genetic disorders is well documented but not as yet in Mucopolysaccharidosis type III (MPS III)....

général - core.ac.uk - PDF: orca.cf.ac.uk

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Mortality in patients with sanfilippo syndromeAbstract Background Sanfilippo syndrome (mucopolysaccharidosis type III; MPS III) is an inherited monogenic lysosomal storage disorder divided into subtypes A, B, C and D....

général - core.ac.uk - PDF: doaj.org