Pompe disease in infants: improving the prognosis by newborn screening and early treatment.
about
Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgottenAlbuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease.Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.Pompe disease: from pathophysiology to therapy and back againDifferences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy.Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype.Consensus treatment recommendations for late-onset Pompe diseaseAlgorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.Myostatin and insulin-like growth factor I: potential therapeutic biomarkers for pompe diseaseEnhanced efficacy from gene therapy in Pompe disease using coreceptor blockadeA chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.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.The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII).A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencingQuantitative evaluation of skeletal muscle defects in second harmonic generation images.Newborn screening for lysosomal storage disorders in hungary.Lysosomal Storage Diseases-Regulating Neurodegeneration.Slow, 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.Enzymatic 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.The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test.Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state.The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patientsSustained correction of motoneuron histopathology following intramuscular delivery of AAV in pompe mice.Newborn screening for lysosomal storage disorders.Cystic fibrosis newborn screening: a model for neuromuscular disease screening?Expanded newborn screening by mass spectrometry: New tests, future perspectives.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.Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine.Letter to the Editors: Concerning "Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state" by Takashi et al. and Letter to thA Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS CellsHuman Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification.Newborn screening for Pompe disease: an update, 2011.Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease.Reference intervals of α-glycosidase, β-glycosidase, and α-galactosidase in dried blood spot in a Turkish newborn population.
P2860
Q27015911-03B43643-EB9B-4E5C-A489-6250E7F0BBA0Q33606805-59805927-E5AD-40B3-8E6D-0349637C2150Q33626787-1E992790-6CA2-4127-B328-09B6DC5607EDQ34054935-532ABE4C-6E12-45E5-AF16-20B84BDA1E8DQ34349099-A1F86F8A-29E4-429C-92A6-D46B4C35DE48Q34560202-659E71C0-2F14-4AD6-BB5B-0DDB8FB09455Q34634354-7A45799A-A53D-4269-B971-FB538E075096Q34794660-070F4FE9-0819-4A22-9E76-189A6F78A8A4Q34964663-CB64AFCF-B491-4EB5-952A-161B1B569041Q34999729-6276B8A4-BA11-4F36-95E6-E84A283532D3Q35600430-001D030B-52D8-4DDC-8867-5E79D89B2453Q35752654-112F65F0-2AA4-4601-9BAF-3FE9A691C4A7Q35848728-44BB2035-1AD7-4F51-9556-CA0C3207DB98Q35956846-4B3A7AB8-99F1-4F74-9FB7-5502586CDC20Q36223972-188CAB05-C245-4D43-9C33-00C848D73986Q36342315-EF1352E3-7A29-416B-9949-16CD2AD42804Q36503498-9A52CA3A-DACF-45B5-85B5-61CA89AB4783Q36587162-C20A4694-CDA8-4894-AAF8-D82DC31C91C5Q36590921-08DADBBA-3CBF-420A-8057-0878E45508CCQ36771137-A8B20364-B569-4A65-89A4-E228F3D17264Q36907450-C547C6BD-382B-4B35-9691-52856F5E1373Q36953239-71220FBF-D099-4B6C-ADBE-E7E7E3C78B24Q36992617-84DEBF49-CC2A-4E0F-BBF8-30CD6D16DF95Q37049783-9A0959E0-DAB9-47C0-97D0-175858AC5744Q37332679-B920A6BA-90AF-4E87-97DF-25FCEDA5550CQ37433545-6081F2E3-E916-448F-ADE7-F9BC664230C1Q37479842-53F93818-EA10-4BC3-BDA7-D944C6255D9BQ37696025-EDDDE192-856B-4413-BD6A-7AEE404AE997Q37839905-9416F68C-979A-46CA-92AB-9647382C6F75Q38271515-57BB6DDB-9B6F-409E-8A21-5D4F838DAD2FQ38465134-053A2982-99FF-4739-8D81-DE5D666C4F79Q39499484-2C12E277-1EA7-4200-80B0-DF3BF8F5C091Q40046102-36395D46-3FC2-42F2-99DF-7BC31C1D7349Q41912890-CC48EACE-7001-460C-84C6-BBC42ECD41F3Q42250944-A44AA659-FDF3-4E63-A887-77F0EE509436Q42677230-F70B59E8-73A4-4D1D-B431-CD39A0651047Q42817633-033E1695-3723-4A3D-AC7B-8FCA1D3F7BCDQ44758772-FA2E661E-F878-4841-8740-B7763327380CQ45780271-3A22F652-B434-4CC5-AE94-98A08BD5418FQ46033328-012F462B-F445-4651-9AF2-1FBFC234C315
P2860
Pompe disease in infants: improving the prognosis by newborn screening and early treatment.
description
2009 nî lūn-bûn
@nan
2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Pompe disease in infants: impr ...... screening and early treatment.
@ast
Pompe disease in infants: impr ...... screening and early treatment.
@en
type
label
Pompe disease in infants: impr ...... screening and early treatment.
@ast
Pompe disease in infants: impr ...... screening and early treatment.
@en
prefLabel
Pompe disease in infants: impr ...... screening and early treatment.
@ast
Pompe disease in infants: impr ...... screening and early treatment.
@en
P2093
P50
P356
P1433
P1476
Pompe disease in infants: impr ...... screening and early treatment
@en
P2093
Ai-Chu Huang
Beth L Thurberg
Fuu-Jen Tsai
Joan Keutzer
Pei-Hsin Huang
Shu-Chuan Chiang
Xiaokui Kate Zhang
Yuan-Tsong Chen
P304
P356
10.1542/PEDS.2008-3667
P407
P577
2009-12-01T00:00:00Z