Natural history of Sanfilippo syndrome in Spain. - Wikidata - awgldk - TriplyDB

Natural history of Sanfilippo syndrome in Spain.

Natural history of Sanfilippo syndrome in Spain.

http://www.wikidata.org/entity/Q37428010

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A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study.Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC.Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia.Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review.Mortality in patients with Sanfilippo syndrome.Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.Epidemiology of Sanfilippo syndrome: results of a systematic literature review.Sanfilippo syndrome: Overall review Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis

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Natural history of Sanfilippo syndrome in Spain.

http://www.wikidata.org/entity/Q37428010

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 06 December 2013

@en

vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Natural history of Sanfilippo syndrome in Spain.

@en

Natural history of Sanfilippo syndrome in Spain.

@nl

type

label

Natural history of Sanfilippo syndrome in Spain.

@en

Natural history of Sanfilippo syndrome in Spain.

@nl

prefLabel

Natural history of Sanfilippo syndrome in Spain.

@en

Natural history of Sanfilippo syndrome in Spain.

@nl

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Orphanet Journal of Rare Diseases

P1476

Natural history of Sanfilippo syndrome in Spain.

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Laura Gort

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Maria Josep Coll

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Maria del Mar O'Callaghan

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Mercedes Pineda

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Verónica Delgadillo

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P2860

Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation

Analysis of Sanfilippo A gene mutations in a large pedigree

Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B

Novel mutations in Sanfilippo A syndrome: implications for enzyme function

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)

Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

The frequency of lysosomal storage diseases in The Netherlands.

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

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1750-1172-8-189

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189

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scholarly article

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10.1186/1750-1172-8-189

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8

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2013-12-06T00:00:00Z

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259244286

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1020894034

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24314109

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3879199

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