(Q38785007)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28506702%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

review article

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title

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

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28506702%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28506702%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

author name string

Darren Janzen

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28506702%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Kathleen A Delaney

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28506702%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

publication date

8 May 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28506702%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:28506702%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:28506702%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

issue

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28506702%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

page(s)

57-69

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28506702%20AND%20SRC:MED&resulttype=core&format=json

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

20 March 2020

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

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

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

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Early treatment is associated with improved cognition in Hurler syndrome.

7 January 2021

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

7 January 2021

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

7 January 2021

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7 January 2021

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7 January 2021

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Implementing common data elements across studies to advance research.

7 January 2021

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The COSMIN study reached international consensus on taxonomy, terminology, and definitions of measurement properties for health-related patient-reported outcomes.

7 January 2021

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

7 January 2021

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[Formula: see text]Selecting measures for the neurodevelopmental assessment of children in low- and middle-income countries

7 January 2021

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

7 January 2021

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A prospective longitudinal study of early cognitive development in tuberous sclerosis - a clinic based study.

7 January 2021

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Development in infants with autism spectrum disorders: a prospective study.

7 January 2021

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Convergent validity of the Mullen Scales of Early Learning and the differential ability scales in children with autism spectrum disorders

7 January 2021

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Convergent and divergent validity of the Mullen Scales of Early Learning in young children with and without autism spectrum disorder

7 January 2021

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Predictive validity of the Bayley, Third Edition at 2 years for intelligence quotient at 4 years in preterm infants.

7 January 2021

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Assessment of cognition and language in the early diagnosis of autism spectrum disorder: usefulness of the Bayley Scales of infant and toddler development, third edition.

7 January 2021

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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

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A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.

7 January 2021

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Natural progression of neurological disease in mucopolysaccharidosis type II.

7 January 2021

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Natural history of Sanfilippo syndrome type A.

7 January 2021

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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

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Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Outcome of second hematopoietic cell transplantation in Hurler syndrome.

7 January 2021

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Bone marrow transplantation in Hunter syndrome.

7 January 2021

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7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome

7 January 2021

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Long-term follow-up following bone marrow transplantation for Hunter disease.

7 January 2021

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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

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7 January 2021

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Concurrent validity of the differential ability scales, second edition with the Mullen Scales of Early Learning in young children with and without neurodevelopmental disorders

7 January 2021

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General measures of cognition for the preschool child

7 January 2021

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

7 January 2021

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Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA

7 January 2021

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Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression

7 January 2021

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Mild form of Hunter's syndrome: clinical delineation based on 31 cases

7 January 2021

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

7 January 2021

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Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome)

7 January 2021

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Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses.

7 January 2021

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Obstructive sleep apnea syndrome after hematopoietic stem cell transplantation in children with mucopolysaccharidosis type I.

7 January 2021

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Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase.

7 January 2021

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Skin eruption as the presenting sign of Hunter syndrome IIB

7 January 2021

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

7 January 2021

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

7 January 2021

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Longitudinal neurocognitive outcome in an adolescent with Hurler-Scheie syndrome

7 January 2021

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Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB.

7 January 2021

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Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome)

7 January 2021

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Psychological status of patients with mucopolysaccharidosis type II and their parents.

7 January 2021

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

7 January 2021

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Otologic manifestations of Hunter syndrome and their relationship with speech development

7 January 2021

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Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations

7 January 2021

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Sanfilippo B disease: a re-examination of a particular sibship after 12 years

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Allogeneic Hematopoietic Stem Cell Transplantation in Thirty-Four Pediatric Cases of Mucopolysaccharidosis-A Ten-Year Report from the China Children Transplant Group

7 January 2021

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Enzyme replacement therapy in an attenuated case of mucopolysaccharidosis type I (Scheie syndrome): a 6.5-year detailed follow-up

7 January 2021

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Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant

7 January 2021

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Bone marrow transplant in a case of mucopolysaccharidosis I Scheie phenotype: skin ultrastructure before and after transplantation

7 January 2021

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First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS).

7 January 2021

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Hunter syndrome follow-up after 1 year of enzyme-replacement therapy

7 January 2021

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

7 January 2021

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Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.

7 January 2021

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Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI.

7 January 2021

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

7 January 2021

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

7 January 2021

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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

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

7 January 2021

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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

7 January 2021

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

7 January 2021

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

7 January 2021

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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

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10.1016/J.YMGME.2017.05.005

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28506702%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference