Association of somatic burden of disease with age and neuropsychological measures in attenuated mucopolysaccharidosis types I, II and VI

INTRODUCTION: The mucopolysaccharidoses (MPSs) are a group of rare genetic lysosomal disorders with progressive multisystem involvement. An MPS-specific physical symptom scale was developed and introduced a Physical Symptom Score (PSS) to quantify the somatic disease burden across MPS I, II and VI....

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Genet Metab Rep
Päätekijät: Ahmed, Alia, Shapiro, Elsa, Rudser, Kyle, Kunin-Batson, Alicia, King, Kelly, Whitley, Chester B.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2016
Aiheet:
Research Paper
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4832083/
https://ncbi.nlm.nih.gov/pubmed/27114913
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.03.006
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