Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.
about
Developing therapeutic approaches for metachromatic leukodystrophyMultiplex 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 allelesNewborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional ProgramsHeart failure in a woman with SLE, anti-phospholipid syndrome and Fabry's diseasePompe disease: from pathophysiology to therapy and back againNewborn screening for pompe disease? a qualitative study exploring professional viewsUncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-upPompe disease: literature review and case seriesNewborn screening for lysosomal storage diseasesDiagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert groupQuality 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 sequencingTandem 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 ERTA single lung transplant in a patient with fabry disease: causality or far-fetched? A case reportEnzymatic Screening and Diagnosis of Lysosomal Storage DiseasesIdentification 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 spectrometryDiagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometryA 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 DíazPlasma 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 spectrometryLysosomal Storage Disorders in Egyptian Children.
P2860
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P2860
Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.
description
2011 nî lūn-bûn
@nan
2011 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Neonatal screening for lysosom ...... a nationwide study in Austria.
@ast
Neonatal screening for lysosom ...... a nationwide study in Austria.
@en
Neonatal screening for lysosom ...... a nationwide study in Austria.
@nl
type
label
Neonatal screening for lysosom ...... a nationwide study in Austria.
@ast
Neonatal screening for lysosom ...... a nationwide study in Austria.
@en
Neonatal screening for lysosom ...... a nationwide study in Austria.
@nl
prefLabel
Neonatal screening for lysosom ...... a nationwide study in Austria.
@ast
Neonatal screening for lysosom ...... a nationwide study in Austria.
@en
Neonatal screening for lysosom ...... a nationwide study in Austria.
@nl
P2093
P1433
P1476
Neonatal screening for lysosom ...... a nationwide study in Austria.
@en
P2093
Arnold Pollak
Berthold Streubel
David C Kasper
Kurt R Herkner
Susanne Greber-Platzer
Susanne Stary
Thomas F Metz
Thomas P Mechtler
Víctor R De Jesús
P304
P356
10.1016/S0140-6736(11)61266-X
P407
P577
2011-11-29T00:00:00Z