Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses (Q59340086)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442188%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

review article

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PubMed publication ID

30442188

title

Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442188%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

main subject

mucopolysaccharidosis

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neurodevelopmental disorder

17 June 2019

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PubMed publication ID

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442188%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

author name string

Rita Barone

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442188%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

Alessandra Pellico

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442188%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

Annarita Pittalà

series ordinal

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442188%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

language of work or name

English

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publication date

16 November 2018

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25 April 2019

17 June 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442188%20AND%20SRC:MED&resulttype=core&format=json

Italian Journal of Paediatrics

3 May 2020

published in

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12 March 2019

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21 March 2019

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22 April 2019

25 April 2019

17 June 2019

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3 May 2020

volume

44

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3 May 2020

issue

Suppl 2

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3 May 2020

page(s)

121

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Creative Commons Attribution 4.0 International

3 May 2020

copyright license

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on focus list of Wikimedia project

17 June 2019

ScienceSource

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cites work

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beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients

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Sleep disorders in Sanfilippo syndrome: a polygraphic study.

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Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters

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The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations

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Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study

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Recurrent fetal hydrops due to mucopolysaccharidoses type VII.

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Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB.

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A clinical study of 77 patients with mucopolysaccharidosis type II

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Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A)

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Circadian rhythm and suprachiasmatic nucleus alterations in the mouse model of mucopolysaccharidosis IIIB.

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Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II.

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Why are behaviors of children suffering from various neuronopathic types of mucopolysaccharidoses different?

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Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

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Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.

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Intrathecal enzyme replacement therapy for mucopolysaccharidosis I: translating success in animal models to patients

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Natural progression of neurological disease in mucopolysaccharidosis type II.

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Early clinical markers of central nervous system involvement in mucopolysaccharidosis type II.

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Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome).

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12 December 2020

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

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CNS penetration of intrathecal-lumbar idursulfase in the monkey, dog and mouse: implications for neurological outcomes of lysosomal storage disorder

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Brain and spinal MR imaging findings in mucopolysaccharidoses: a review.

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12 December 2020

An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell transplantation (HCT)

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12 December 2020

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

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12 December 2020

Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders

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12 December 2020

Mucopolysaccharidosis Type IIIA presents as a variant of Klüver-Bucy syndrome

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12 December 2020

Methods of neurodevelopmental assessment in children with neurodegenerative disease: Sanfilippo syndrome

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12 December 2020

Natural history of Sanfilippo syndrome type A.

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12 December 2020

Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome

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Assessment of sleep in children with mucopolysaccharidosis type III.

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Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial

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Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA

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Intrathecal delivery of protein therapeutics to the brain: a critical reassessment

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Early treatment is associated with improved cognition in Hurler syndrome

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12 December 2020

Evaluation of enzyme dose and dose-frequency in ameliorating substrate accumulation in MPS IIIA Huntaway dog brain

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12 December 2020

First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient

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12 December 2020

Gene therapy for neurologic manifestations of mucopolysaccharidoses

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12 December 2020

Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II.

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12 December 2020

Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study.

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12 December 2020

An investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-III.

1 reference

12 December 2020

Quantifying behaviors of children with Sanfilippo syndrome: the Sanfilippo Behavior Rating Scale

1 reference

12 December 2020

A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II.

1 reference

12 December 2020

Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment

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12 December 2020

Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.

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12 December 2020

Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome)

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12 December 2020

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

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12 December 2020

Emerging drugs for the treatment of mucopolysaccharidoses.

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12 December 2020

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.

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12 December 2020

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

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12 December 2020

The Neurobehavioral Phenotype in Mucopolysaccharidosis Type IIIB: an Exploratory Study

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12 December 2020

Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients.

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12 December 2020

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

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12 December 2020

Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions

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A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA.

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12 December 2020

Nanotechnology applied to treatment of mucopolysaccharidoses.

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Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1.

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Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.

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12 December 2020

Cognitive and adaptive measurement endpoints for clinical trials in mucopolysaccharidoses types I, II, and III: A review of the literature.

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12 December 2020

Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial.

1 reference

12 December 2020

Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review.

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Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations - Neurological signs and symptoms.

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Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses.

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Treatment of brain disease in the mucopolysaccharidoses

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Practical management of behavioral problems in mucopolysaccharidoses disorders

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Epilepsy in mucopolysaccharidosis disorders

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Newborn screening in mucopolysaccharidoses

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Gene therapy for mucopolysaccharidoses: in vivo and ex vivo approaches

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Enzyme replacement therapy: efficacy and limitations

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New treatments for the mucopolysaccharidoses: from pathophysiology to therapy

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12 December 2020

10.1186/S13052-018-0561-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442188%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

3 May 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442188%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

PubMed publication ID

30442188

1 reference