Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations - Neurological signs and symptoms. (Q47668549)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29074036%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

title

Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations - Neurological signs and symptoms (English)

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8 April 2020

1

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8 April 2020

author name string

Simon A Jones

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29074036%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Maria L Escolar

series ordinal

3

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8 April 2020

publication date

26 August 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29074036%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

8 April 2020

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29074036%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

volume

122S

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8 April 2020

page(s)

1-7

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29074036%20AND%20SRC:MED&resulttype=core&format=json

Overview of the mucopolysaccharidoses

8 April 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Behaviour in mucopolysaccharide disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Natural history of Sanfilippo syndrome type A.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

The Neurobehavioral Phenotype in Mucopolysaccharidosis Type IIIB: an Exploratory Study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Degeneration of speech, language, and hearing in a patient with mucopolysaccharidosis VII.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

The natural history of MPS I: global perspectives from the MPS I Registry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

The presenting features of mucopolysaccharidosis type IH (Hurler syndrome)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Treatment of brain disease in the mucopolysaccharidoses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

The clinical outcome of Hurler syndrome after stem cell transplantation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Long-term outcome of Hurler syndrome following bone marrow transplantation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Long-term functional outcomes of children with hurler syndrome treated with unrelated umbilical cord blood transplantation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Cord-blood transplants from unrelated donors in patients with Hurler's syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Brain MRI in mucopolysaccharidosis: Effect of aging and correlation with biochemical findings

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

The mucopolysaccharidoses: a clinical review and guide to management

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Mucopolysaccharidosis I: management and treatment guidelines

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Early disease progression of Hurler syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Gross motor abilities in children with Hurler syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Clinical assessment and treatment of carpal tunnel syndrome in the mucopolysaccharidoses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Orthopedic management of mucopolysaccharide disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Natural progression of neurological disease in mucopolysaccharidosis type II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Initial report from the Hunter Outcome Survey

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

A clinical study of 77 patients with mucopolysaccharidosis type II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Otologic manifestations of Hunter syndrome and their relationship with speech development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Nocturnal frontal lobe epilepsy in mucopolysaccharidosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Multidisciplinary management of Hunter syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Psychosocial problems in Hunter's syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Assessment of sleep in children with mucopolysaccharidosis type III.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Impairment of the melatonin rhythm in children with Sanfilippo syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Challenging symptoms in children with rare life-limiting conditions: findings from a prospective diary and interview study with families.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Management of the behavioural manifestations of Hunter syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Early treatment is associated with improved cognition in Hurler syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

Serial magnetic resonance imaging findings in mucopolysaccharidosis IIIB (Sanfilippo's syndrome B).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.009

10.1016/J.YMGME.2017.08.009

7 January 2021

Identifiers

DOI

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release_us4rdmgkvngqllbj7bfgxhv4ju

8 April 2020

Fatcat ID

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mapped directly with Wikidata item

24 November 2022

based on heuristic

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