Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.
about
Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgottenThe clinical relevance of outcomes used in late-onset Pompe disease: can we do better?Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I.The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations.Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease.Digital microfluidics: a future technology in the newborn screening laboratory?Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional ProgramsPompe disease: from pathophysiology to therapy and back againNewborn screening for pompe disease? a qualitative study exploring professional viewsDifferences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy.Newborn screening for hunter disease: a small-scale feasibility studyHypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype.Consensus treatment recommendations for late-onset Pompe diseaseEnzyme replacement therapy in late-onset Pompe disease: a systematic literature review.Newborn screening for lysosomal storage diseasesGlycosaminoglycan storage disorders: a reviewGenetic counseling in Pompe disease.Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn ScreeningPublic support for neonatal screening for Pompe disease, a broad-phenotype condition.Immune Modulation Therapy in a CRIM-Positive and IgG Antibody-Positive Infant with Pompe Disease Treated with Alglucosidase Alfa: A Case ReportInfantile Pompe disease: A case report and review of the Chinese literatureThe Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAESlow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.Lower Urinary Tract Symptoms and Incontinence in Children with Pompe DiseaseThe value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patientsNewborn screening for lysosomal storage disorders and other neuronopathic conditions.Newborn screening for lysosomal storage diseases: an ethical and policy analysis.The genotype-phenotype correlation in Pompe disease.Expanding newborn screening for lysosomal disorders: opportunities and challenges.Enzymatic and molecular strategies to diagnose Pompe disease.Inborn errors of metabolism and expanded newborn screening: review and update.Expanded newborn screening by mass spectrometry: New tests, future perspectives.Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.Newborn Screening for Lysosomal Storage Disorders.Effect of temperature on lysosomal enzyme activity during preparation and storage of dried blood spots.A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice.Successful newborn screening for Gaucher disease using fluorometric assay in China.A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler).
P2860
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P2860
Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Early detection of Pompe disea ...... the Taiwan screening program.
@en
Early detection of Pompe disea ...... the Taiwan screening program.
@nl
type
label
Early detection of Pompe disea ...... the Taiwan screening program.
@en
Early detection of Pompe disea ...... the Taiwan screening program.
@nl
prefLabel
Early detection of Pompe disea ...... the Taiwan screening program.
@en
Early detection of Pompe disea ...... the Taiwan screening program.
@nl
P2093
P50
P356
P1433
P1476
Early detection of Pompe disea ...... m the Taiwan screening program
@en
P2093
Ai-Chu Huang
Chun-An Chen
Fu-Jen Tsai
Joan Keutzer
Pei-Hsin Huang
Shu-Chuan Chiang
Xiaokui Kate Zhang
Yuan-Tsong Chen
P304
P356
10.1542/PEDS.2007-2222
P407
P577
2008-06-02T00:00:00Z