Cargando…

Mortality in patients with Sanfilippo syndrome

BACKGROUND: Sanfilippo syndrome (mucopolysaccharidosis type III; MPS III) is an inherited monogenic lysosomal storage disorder divided into subtypes A, B, C and D. Each subtype is characterized by deficiency of a different enzyme participating in metabolism of heparan sulphate. The resultant accumul...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lavery, Christine, Hendriksz, Chris J., Jones, Simon A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5654004/ https://www.ncbi.nlm.nih.gov/pubmed/29061114 http://dx.doi.org/10.1186/s13023-017-0717-y

Ejemplares similares

Sanfilippo syndrome: consensus guidelines for clinical care
por: Muschol, Nicole, et al.
Publicado: (2022)

Natural history of Sanfilippo syndrome in Spain
por: Delgadillo, Verónica, et al.
Publicado: (2013)

Is the eye a window to the brain in Sanfilippo syndrome?
por: Beard, Helen, et al.
Publicado: (2020)

Sanfilippo syndrome: causes, consequences, and treatments
por: Fedele, Anthony O
Publicado: (2015)

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
por: Valstar, Marlies J, et al.
Publicado: (2011)

Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)
por: Muschol, Nicole M., et al.
Publicado: (2019)

Economic Burden of Sanfilippo Syndrome in the United States
por: Ashby, Frederick, et al.
Publicado: (2023)

Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach
por: Cyske, Zuzanna, et al.
Publicado: (2022)

Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome)
por: Mumford, Rachel A., et al.
Publicado: (2015)

An immune deficient mouse model for mucopolysaccharidosis IIIA (Sanfilippo syndrome)
por: Pollock, Kari, et al.
Publicado: (2023)

Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome
por: Fernández-Hernández, Liliana, et al.
Publicado: (2022)

Reply to Sanfilippo et al. and to Caviedes et al.
por: Arachchillage, Deepa J., et al.
Publicado: (2021)

Caregivers' assessment of meaningful and relevant clinical outcome assessments for Sanfilippo syndrome
por: Porter, Katherine Ackerman, et al.
Publicado: (2022)

Epidemiology of Sanfilippo syndrome: results of a systematic literature review
por: Zelei, Tamás, et al.
Publicado: (2018)

Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches
por: Benetó, Noelia, et al.
Publicado: (2020)

A case report of Sanfilippo syndrome – the long way to diagnosis
por: Lorenz, Delia, et al.
Publicado: (2022)

Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil
por: do Valle, Daniel Almeida, et al.
Publicado: (2022)

Femoral Structure and Biomechanical Characteristics in Sanfilippo Syndrome Type-B Mice
por: Ashby, Frederick James, et al.
Publicado: (2023)

Music therapy and Sanfilippo syndrome: an analysis of psychological and physiological variables of three case studies
por: Pérez-Núñez, P., et al.
Publicado: (2021)

N-Substituted l-Iminosugars for the Treatment of Sanfilippo Type B Syndrome
por: De Pasquale, Valeria, et al.
Publicado: (2023)

Biochemical diagnosis of Sanfilippo disorder types A and B
por: Nosier, Soha S., et al.
Publicado: (2023)

How close are we to therapies for Sanfilippo disease?
por: Gaffke, Lidia, et al.
Publicado: (2017)

Development of Sensory, Motor and Behavioral Deficits in the Murine Model of Sanfilippo Syndrome Type B
por: Heldermon, Coy D., et al.
Publicado: (2007)

Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment
por: Porter, Katherine Ackerman, et al.
Publicado: (2020)

Delayed speech, hyperactivity, and coarse facies: Does Sanfilippo syndrome come to mind?
por: Kartal, Ayşe
Publicado: (2016)

Challenges in the treatment of neurodevelopmental disorder: Sanfilippo syndrome – a multimodal treatment approach.
por: Priya S, Sasi, et al.
Publicado: (2022)

Abstract for E- poster Mucopolysaccharidosis III (Sanfilippo Syndrome) with severe behavioural problems
Publicado: (2022)

Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey
por: Hendriksz, Christian J, et al.
Publicado: (2014)

Defects in the Medial Entorhinal Cortex and Dentate Gyrus in the Mouse Model of Sanfilippo Syndrome Type B
por: Ohmi, Kazuhiro, et al.
Publicado: (2011)

A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B
por: Muschol, Nicole, et al.
Publicado: (2023)

Neurodevelopmental Changes in Excitatory Synaptic Structure and Function in the Cerebral Cortex of Sanfilippo Syndrome IIIA Mice
por: Dwyer, Chrissa A., et al.
Publicado: (2017)

A Multiparametric Computational Algorithm for Comprehensive Assessment of Genetic Mutations in Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome)
por: Ugrinov, Krastyu G., et al.
Publicado: (2015)

Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease
por: Heon-Roberts, Rachel, et al.
Publicado: (2020)

Sanfilippo syndrome registry project and natural history studies: an example of patients, parents and researchers collaborating for a cure
por: Wood, Jill, et al.
Publicado: (2014)

Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data
por: Shapiro, Elsa, et al.
Publicado: (2019)

Differential Uptake of NAGLU-IGF2 and Unmodified NAGLU in Cellular Models of Sanfilippo Syndrome Type B
por: Prill, Heather, et al.
Publicado: (2019)

Correction: Defects in the Medial Entorhinal Cortex and Dentate Gyrus in the Mouse Model of Sanfilippo Syndrome Type B
por: Ohmi, Kazuhiro, et al.
Publicado: (2012)

The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation
por: Huh, Hee Jae, et al.
Publicado: (2013)

A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)
por: Hettiarachchi, Dineshani, et al.
Publicado: (2018)

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development
por: Benetó, Noelia, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_g4922jro315uv6t4bffee9d0uj