Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. - Wikidata - wikimedia - TriplyDB

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

http://www.wikidata.org/entity/Q44519420

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Sanfilippo syndrome: causes, consequences, and treatments Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field test Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome)Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.Insulin receptor antibody-sulfamidase fusion protein penetrates the primate blood-brain barrier and reduces glycosoaminoglycans in Sanfilippo type A cells.An investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-III.Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome).Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III.Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder.Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB Glycan-based biomarkers for mucopolysaccharidoses.Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC.Natural history of Sanfilippo syndrome in Spain.Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report.Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases.Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report.Overview of the mucopolysaccharidoses.Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders.Natural history of Sanfilippo syndrome type A.Recent advances in gene therapy for lysosomal storage disorders.Emerging drugs for the treatment of mucopolysaccharidoses.Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs).Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease).Variables influencing fluorimetric N-sulfoglucosamine sulfohydrolase (SGSH) activity measurement in brain homogenates.Toward a gene therapy for neurological and somatic MPSIIIA From hypertransaminasemia to mucopolysaccharidosis IIIA.High and prolonged sulfamidase secretion by the liver of MPS-IIIA mice following hydrodynamic tail vein delivery of antibiotic-free pFAR4 plasmid vector.Mortality in patients with Sanfilippo syndrome.Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.Delivery of Biologics Across the Blood-Brain Barrier with Molecular Trojan Horse Technology.Challenging symptoms in children with rare life-limiting conditions: findings from a prospective diary and interview study with families.Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA.Evaluation of enzyme dose and dose-frequency in ameliorating substrate accumulation in MPS IIIA Huntaway dog brain.Disease stage determines the efficacy of treatment of a paediatric neurodegenerative disease.Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease.

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P2860

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

http://www.wikidata.org/entity/Q44519420

description

2010 nî lūn-bûn

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2010年の論文

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2010年学术文章

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name

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

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Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

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type

label

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

@en

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

@nl

prefLabel

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

@en

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

@nl

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Annals of Neurology

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Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

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Ben J Poorthuis

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Dicky J Halley

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Frits A Wijburg

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George J G Ruijter

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Hennie T Bruggenwirth

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Marlies J Valstar

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Otto P van Diggelen

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Renske Olmer

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Ron A Wevers

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Sanne Neijs

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P2860

Gene therapy for mucopolysaccharidosis

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A

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

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

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

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

Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses

Molecular defects in Sanfilippo syndrome type A

Novel mutations in Sanfilippo A syndrome: implications for enzyme function

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

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876-887

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10.1002/ANA.22092

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6

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68

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2010-12-01T00:00:00Z

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21061399

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