Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-015-9862-4
Reference34 articles.
1. Ara JR, Mayayo E, Marzo ME et al (1999) Neurological impairment in alpha-mannosidosis: a longitudinal clinical and MRI study of a brother and sister. Childs Nerv Syst 15:369–371
2. Aylsworth AS, Taylor HA, Stuart CM, Thomas GH (1976) Mannosidosis: phenotype of a severely affected child and characterization of alpha-mannosidase activity in cultured fibroblasts from the patient and his parents. J Pediatr 88:814–818
3. Borgwardt L, Danielsen ER, Thomsen C et alAlpha-mannosidosis: characterisation of CNS pathology and correlation between MRI/MRS, CSF biomarkers, CSF oligosaccharides and cognitive function. 2015.(In Press)
4. Borgwardt L, Riise Stensland HM, Olsen KJ et al Alpha-Mannosidosis: correlation between phenotype, genotype and mutatnt MAN2B1 subcellular localisation. Orphanet.J.Rare.Dis. 2015.(In Press)
5. Borgwardt L, Dali CI, Fogh J et al (2013) Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study. J Inherit Metab Dis
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