The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I (Q79870081)

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scientific article published on 02 March 2007

The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

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English	The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I	scientific article published on 02 March 2007	The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

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26 December 2019

The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I (English)

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26 December 2019

mucopolysaccharidosis I

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based on heuristic

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Gregory M Pastores

1

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26 December 2019

Pamela Arn

2

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26 December 2019

Michael Beck

3

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26 December 2019

Joe T R Clarke

4

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26 December 2019

Nathalie Guffon

5

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26 December 2019

Paige Kaplan

6

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26 December 2019

Joseph Muenzer

7

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26 December 2019

Denise Y J Norato

8

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26 December 2019

Elsa Shapiro

9

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26 December 2019

Janet Thomas

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26 December 2019

David Viskochil

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26 December 2019

J Edmond Wraith

12

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publication date

2 March 2007

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26 December 2019

Molecular Genetics and Metabolism

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26 December 2019

91

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26 December 2019

1

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26 December 2019

37-47

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26 December 2019

Bridging regional and global perspectives

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https://api.crossref.org/works/10.1016/J.YMGME.2007.01.011

7 January 2021

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

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https://api.crossref.org/works/10.1016/J.YMGME.2007.01.011

7 January 2021

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

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7 January 2021

Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations

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7 January 2021

Prevalence of lysosomal storage disorders

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7 January 2021

Incidence of the mucopolysaccharidoses in Northern Ireland

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7 January 2021

An update on the frequency of mucopolysaccharide syndromes in British Columbia

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7 January 2021

The frequency of lysosomal storage diseases in The Netherlands.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Enzyme-replacement therapy in mucopolysaccharidosis I.

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7 January 2021

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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https://api.crossref.org/works/10.1016/J.YMGME.2007.01.011

7 January 2021

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

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https://api.crossref.org/works/10.1016/J.YMGME.2007.01.011

7 January 2021

The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I.

1 reference

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7 January 2021

Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I.

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7 January 2021

Problems in the use of large data sets to assess effectiveness

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7 January 2021

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease

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7 January 2021

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

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7 January 2021

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

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7 January 2021

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients

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7 January 2021

Therapeutic goals in the treatment of Gaucher disease.

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7 January 2021

Derivation and validation of a mathematical model for predicting the response to exogenous recombinant human growth hormone (GH) in prepubertal children with idiopathic GH deficiency. KIGS International Board. Kabi Pharmacia International Growth Stu

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7 January 2021

Advances in growth hormone therapy: a new registry tool

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Identifiers

10.1016/J.YMGME.2007.01.011

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17336562 AND SRC:MED&resulttype=core&format=json

26 December 2019

PubMed publication ID

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17336562 AND SRC:MED&resulttype=core&format=json

26 December 2019

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