Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey

Autor: Heather Lau, Paul Harmatz, Jaco Botha, Jennifer Audi, Bianca Link

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101005- (2023)

Approximately two-thirds of patients with mucopolysaccharidosis II (MPS II; Hunter syndrome) have neuronopathic disease, with central nervous system involvement; one-third have non-neuronopathic disease. This analysis of data from the Hunter Outcome

Externí odkaz: https://doaj.org/article/0f581cf4275947cc8ca13edda58177b9

Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome

Autor: Nathan Grant

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)

Externí odkaz: https://doaj.org/article/3a3ef3b5b84f4a00a933ca6cc9c01f1c

The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome

Autor: Julie B. Eisengart, Chester B. Whitley, Elsa G Shapiro, Joseph Muenzer, Kelly King

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 22, Iss, Pp-(2020)
Molecular Genetics and Metabolism Reports

In neuronopathic Hunter syndrome, neurobehavioral symptoms are known to be serious but have been incompletely described. While families face significant stress stemming from this complex and far-reaching array of symptoms, neither caregiver burden no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95fdcf10e874b5ac064254afad996500
http://www.sciencedirect.com/science/article/pii/S2214426919301521

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome.

Autor: Eisengart JB; Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., King KE; Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Shapiro EG; Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.; Shapiro Neuropsychology Consulting, LLC, Portland, OR, USA., Whitley CB; Department of Experimental and Clinical Pharmacology and Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Muenzer J; Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2019 Dec 20; Vol. 22, pp. 100549. Date of Electronic Publication: 2019 Dec 20 (Print Publication: 2020).