Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II - Wikidata - awgldk - TriplyDB

Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II

Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II

http://www.wikidata.org/entity/Q33627495

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Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II

http://www.wikidata.org/entity/Q33627495

description

2016 nî lūn-bûn

@nan

2016 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2016 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

name

Clinical and Genetic Character ...... Mucopolysaccharidosis Type II

@ast

Clinical and Genetic Character ...... Mucopolysaccharidosis Type II

@en

type

label

Clinical and Genetic Character ...... Mucopolysaccharidosis Type II

@ast

Clinical and Genetic Character ...... Mucopolysaccharidosis Type II

@en

prefLabel

Clinical and Genetic Character ...... Mucopolysaccharidosis Type II

@ast

Clinical and Genetic Character ...... Mucopolysaccharidosis Type II

@en

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Journal of Inherited Metabolic Disorders Reports

P1476

Clinical and Genetic Character ...... Mucopolysaccharidosis Type II

@en

P2093

Camelia Alkhzouz

http://www.w3.org/2001/XMLSchema#string

Carmencita Lucia Denes

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Cecilia Lazea

http://www.w3.org/2001/XMLSchema#string

Eva Kiss

http://www.w3.org/2001/XMLSchema#string

Ioana Nascu

http://www.w3.org/2001/XMLSchema#string

Paula Grigorescu-Sido

http://www.w3.org/2001/XMLSchema#string

Simona Bucerzan

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P2860

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

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

Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome)

Hunter disease in the Spanish population: molecular analysis in 31 families

Detection of point mutations and a gross deletion in six Hunter syndrome patients

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.

Growth charts for patients with Hunter syndrome.

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.

Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.

130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus.

P304

19-25

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scholarly article

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10.1007/8904_2016_535

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33

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2016-06-29T00:00:00Z

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27351199

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5413445

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