(Q45857959)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Linda Lowes

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

author name string

K V Truxal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

H Fu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

D M McCarty

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

K A McNally

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

K L Kunkler

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

N A Zumberge

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

L Martin

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

S C Aylward

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

L N Alfano

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

K M Berry

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

M Corridore

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

C McKee

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

K M Flanigan

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

publication date

18 August 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

22 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

volume

119

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

page(s)

239-248

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

Prevalence rates of mucopolysaccharidoses in Poland

22 March 2020

cites work

1 reference

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Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects

7 January 2021

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The molecular basis of Sanfilippo syndrome type B

7 January 2021

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Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.08.002

Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.08.002

Sanfilippo syndrome: a mini-review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.08.002

Biochemical, histological and functional correction of mucopolysaccharidosis type IIIB by intra-cerebrospinal fluid gene therapy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.08.002

Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy

7 January 2021

1 reference

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A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA)

7 January 2021

1 reference

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The PedsQL: measurement model for the pediatric quality of life inventory

7 January 2021

1 reference

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PedsQL 4.0: reliability and validity of the Pediatric Quality of Life Inventory version 4.0 generic core scales in healthy and patient populations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.08.002

A formula for determining the standard liver volume in children: a special reference for neonates and infants

7 January 2021

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Volume of the spleen in children as measured on CT scans: normal standards as a function of body weight.

7 January 2021

1 reference

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Pediatric idiopathic intracranial hypertension

7 January 2021

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Correction of cerebrospinal fluid protein for the presence of red blood cells in children with a traumatic lumbar puncture.

7 January 2021

1 reference

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Nonverbal cognitive development in children with cochlear implants: relationship between the Mullen Scales of Early Learning and later performance on the Leiter International Performance Scales-Revised

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.08.002

(1)H MR spectroscopy in pediatrics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.08.002

Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.08.002

Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.08.002

Mucopolysaccharidosis IIIB, a lysosomal storage disease, triggers a pathogenic CNS autoimmune response

7 January 2021

1 reference

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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.2016.08.002

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.2016.08.002

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.2016.08.002

Comparison of inter subject variability and reproducibility of whole brain proton spectroscopy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.08.002

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.08.002

Functional correction of neurological and somatic disorders at later stages of disease in MPS IIIA mice by systemic scAAV9-hSGSH gene delivery

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.08.002

10.1016/J.YMGME.2016.08.002

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27590925%20AND%20SRC:MED&resulttype=core&format=json

release_ilsotwytlbe2xgjlqhxr76w5uu

22 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ilsotwytlbe2xgjlqhxr76w5uu

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference