(Q38787918)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

title

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Simon Jones

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

7

Roberto Giugliani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

author name string

Johanna H van der Lee

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Jonathan Morton

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Heather R Adams

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Lorne Clarke

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Berendine Johanne Ebbink

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Maria L Escolar

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Paul Harmatz

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Shauna Kearney

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Joseph Muenzer

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Stewart Rust

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Margaret Semrud-Clikeman

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Frits A Wijburg

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Zi-Fan Yu

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Darren Janzen

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Elsa Shapiro

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

publication date

6 May 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

20 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

volume

121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

page(s)

70-79

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.

20 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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.2017.05.004

Outcome in six children with mucopolysaccharidosis type IH, Hurler syndrome, after haematopoietic stem cell transplantation (HSCT).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Variable disease progression after successful stem cell transplantation: prospective follow-up investigations in eight patients with Hurler syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Early treatment is associated with improved cognition in Hurler syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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.2017.05.004

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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.2017.05.004

Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Mucopolysaccharidosis I: management and treatment guidelines

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Implementing common data elements across studies to advance research.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and S

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Natural progression of neurological disease in mucopolysaccharidosis type II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Natural history of Sanfilippo syndrome type A.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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.2017.05.004

A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Outcome of second hematopoietic cell transplantation in Hurler syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Bone marrow transplantation in Hunter syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Pre-stem cell transplantation enzyme replacement therapy in Hurler syndrome does not lead to significant antibody formation or delayed recovery of the endogenous enzyme post-transplant: a case report.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Early disease progression of Hurler syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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.2017.05.004

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.2017.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Non-convulsive status epilepticus of frontal origin in mucopolysaccharidosis type II successfully treated with ethosuximide.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Gross motor development of children with hurler syndrome after umbilical cord blood transplantation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Longitudinal neurocognitive outcome in an adolescent with Hurler-Scheie syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Long-term adaptive functioning outcomes of children with inherited metabolic and genetic diseases treated with hematopoietic stem cell transplantation in a single large pediatric center: parents' perspective.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Evaluation of miglustat treatment in patients with type III mucopolysaccharidosis: a randomized, double-blind, placebo-controlled study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

MPS II: adaptive behavior of patients and impact on the family system.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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.2017.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Why do clinical trials fail? The problem of measurement error in clinical trials: time to test new paradigms?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Implementation considerations for multisite clinical trials with cognitive neuroscience tasks

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Principles of Good Practice for the Translation and Cultural Adaptation Process for Patient-Reported Outcomes (PRO) Measures: report of the ISPOR Task Force for Translation and Cultural Adaptation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Inaccuracy in clinical trials: effects and methods to control inaccuracy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

Methods for assessing neurodevelopment in lysosomal storage diseases and related disorders: a multidisciplinary perspective

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.004

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.2017.05.004

10.1016/J.YMGME.2017.05.004

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28501294%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference