Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. - Wikidata - awgldk - TriplyDB

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.

http://www.wikidata.org/entity/Q34237462

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Developing therapeutic approaches for metachromatic leukodystrophy Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs Heart failure in a woman with SLE, anti-phospholipid syndrome and Fabry's disease Pompe disease: from pathophysiology to therapy and back again Newborn screening for pompe disease? a qualitative study exploring professional views Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up Pompe disease: literature review and case series Newborn screening for lysosomal storage diseases Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group Quality of life in patients with Fabry disease: a systematic review of the literature.Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI.Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT A single lung transplant in a patient with fabry disease: causality or far-fetched? A case report Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts.Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.Newborn screening for lysosomal storage disorders and other neuronopathic conditions.Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)Clinical neurogenetics: neuropathic lysosomal storage disorders.Role of endosomes and lysosomes in human disease.A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.Difficulties and barriers in diagnosing Fabry disease: what can be learnt from the literature?Lysosomal diseases: diagnostic update.Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment.Recent advances in gene therapy for lysosomal storage disorders.Lysosomal storage disorders: A review of the musculoskeletal features.The Impact of Fabry Disease on Reproductive Fitness.Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers.Newborn Screening for Lysosomal Storage Disorders.Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study.Improved reagents for newborn screening of mucopolysaccharidosis types I, II, and VI by tandem mass spectrometry Lysosomal Storage Disorders in Egyptian Children.

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P2860

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.

http://www.wikidata.org/entity/Q34237462

description

2011 nî lūn-bûn

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2011 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2011 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Neonatal screening for lysosom ...... a nationwide study in Austria.

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Neonatal screening for lysosom ...... a nationwide study in Austria.

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Neonatal screening for lysosom ...... a nationwide study in Austria.

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Neonatal screening for lysosom ...... a nationwide study in Austria.

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Neonatal screening for lysosom ...... a nationwide study in Austria.

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Neonatal screening for lysosom ...... a nationwide study in Austria.

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Neonatal screening for lysosom ...... a nationwide study in Austria.

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Neonatal screening for lysosom ...... a nationwide study in Austria.

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Neonatal screening for lysosom ...... a nationwide study in Austria.

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Arnold Pollak

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Berthold Streubel

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David C Kasper

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Kurt R Herkner

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335-341

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