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1دورية أكاديمية
المؤلفون: Katherine H. Kim, Ankit K. Desai, Erika R. Vucko, Tracy Boggs, Priya S. Kishnani, Barbara K. Burton
المصدر: Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100981- (2023)
مصطلحات موضوعية: Pompe disease, Anti-drug antibody titers, Enzyme replacement therapy, Immune modulation therapy, Urine glucose tetrasaccharide (Glc4), Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Sarah P. Young, Aleena Khan, Ela Stefanescu, Andrea M. Seifts, Ghada Hijazi, Stephanie Austin, Priya S. Kishnani
المصدر: JIMD Reports, Vol 58, Iss 1, Pp 37-43 (2021)
مصطلحات موضوعية: 24‐hour urine, biomarker, Glc4, glucose tetrasaccharide, glycogen storage disease type III, Hex4, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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3دورية أكاديمية
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المؤلفون: Vincenza, Gragnaniello, Pim W W M, Pijnappel, Alessandro P, Burlina, Stijn L M, In 't Groen, Daniela, Gueraldi, Chiara, Cazzorla, Evelina, Maines, Giulia, Polo, Leonardo, Salviati, Giovanni, Di Salvo, Alberto B, Burlina
المساهمون: Clinical Genetics, Pediatrics
المصدر: Molecular Genetics and Metabolism Reports, 33:100929. Elsevier
مصطلحات موضوعية: Newborn screening, electromyography, digital microfluidics, variants of uncertain significance, cross-reactive immunological material, Gross Motor Function Measure, DBS, Medical Research Council Scale, Endocrinology, EMG, NBS, IOPD, magnetic resonance imaging, GAA, immunotolerance induction, LVMI, left ventricular max index, ejection fraction, Acid α-glucosidase, CLIR, Collaborative Laboratory Integrated Reports, CRIM, cross-reactive immunological material, DBS, dried blood spot, DMF, digital microfluidics, ECG, electrocardiogram, EF, ejection fraction, EMG, electromyography, ERT, enzyme replacement therapy, Enzyme replacement therapy, GAA, acid α-glucosidase, GMFM-88, Gross Motor Function Measure, Glc4, glucose tetrasaccharide, IOPD, infantile-onset Pompe disease, ITI, immunotolerance induction, LOPD, late-onset Pompe disease, LVMI, left ventricular max index, MFM-20, motor function measurement, MRC, Medical Research Council Scale, MRI, magnetic resonance imaging, MS/MS, tandem mass spectrometry, NBS, newborn screening, PBMC, peripheral blood mononuclear cells, PD, Pompe disease, PPV, positive predictive value, Pompe disease, RUSP, Recommended Uniform Screening Panel, Tandem mass-spectrometry, Urinary tetrasaccharide, VUS, variants of uncertain significance, nv, normal values, rhGAA, recombinant human GAA, CLIR, peripheral blood mononuclear cells, rhGAA, CRIM, dried blood spot, MRC, LOPD, GMFM-88, PD, ERT, MRI, motor function measurement, PPV, Recommended Uniform Screening Panel, electrocardiogram, Glc4, late-onset Pompe disease, DMF, RUSP, nv, tandem mass spectrometry, Genetics, MS/MS, MFM-20, normal values, Molecular Biology, glucose tetrasaccharide, ECG, Collaborative Laboratory Integrated Reports, PBMC, EF, VUS, ITI, positive predictive value, infantile-onset Pompe disease, recombinant human GAA
وصف الملف: application/pdf
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المؤلفون: Aleena A. Khan, Priya S. Kishnani, Stephanie Austin, Sarah P. Young, Ghada Hijazi, Andrea M. Seifts, Ela Stefanescu
المصدر: JIMD Reports, Vol 58, Iss 1, Pp 37-43 (2021)
مصطلحات موضوعية: lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, Urinary system, Physiology, Reference range, Glc4, Glucose tetrasaccharide, Glycogen storage disease type III, 24‐hour urine, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Biochemistry, Genetics and Molecular Biology (miscellaneous), Excretion, chemistry.chemical_compound, Hex4, Internal Medicine, Medicine, Glycogen storage disease, In patient, glucose tetrasaccharide, glycogen storage disease type III, Creatinine, lcsh:RC648-665, business.industry, medicine.disease, lcsh:Genetics, chemistry, biomarker, business
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المؤلفون: Sarah P. Young, Christine Vianey-Saban, Magali Pettazzoni, Pascal Laforêt, Brigitte Chabrol, Monique Piraud, Marie De Antonio, Roseline Froissart
المساهمون: Hospices Civils de Lyon (HCL), Centre Hospitalier Universitaire de Lyon, Institut de biologie et chimie des protéines [Lyon] (IBCP), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Centre de résonance magnétique biologique et médicale (CRMBM), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Hôpital de la Timone [CHU - APHM] (TIMONE)
المصدر: Molec. Genet. Metab. Rep.
Molec. Genet. Metab. Rep., 2020, 23, pp.100583. ⟨10.1016/j.ymgmr.2020.100583⟩
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 23, Iss, Pp-(2020)مصطلحات موضوعية: Glc4, Glcα1-6Glcα1-4Glcα1-4Glc, tetraglucose, Cross Immune Reactive Material, [SDV]Life Sciences [q-bio], Gastroenterology, Endocrinology, Limit of Detection, IOPD, Medicine, LOD, lcsh:QH301-705.5, ComputingMilieux_MISCELLANEOUS, QC, NaBH3CN, Sodium Cyanoborohydride, lcsh:R5-920, 0303 health sciences, LOQ, GVUS, 030305 genetics & heredity, Solid Phase Extraction, LOD, Limit of Detection, Enzyme replacement therapy, Glycogen Storage Disease, CRIM, 3. Good health, LOPD, Cohort, Biomarker (medicine), PD, ERT, IS, Internal Standard, LOPD, Late-Onset Pompe disease, lcsh:Medicine (General), Urine glucose, NaBH3CN, Research Paper, Pompe Disease, Quality Control, medicine.medical_specialty, QC, Quality Control, Glcα1-6Glcα1-4Glcα1-4Glc, Late-Onset Pompe disease, GSD, Glc4, tetraglucose, 03 medical and health sciences, ERT, Enzyme Replacement Therapy, Sodium Cyanoborohydride, Internal medicine, ACN, Acetonitrile, Genetics, IOPD, Infantile-Onset Pompe disease, Tetrasaccharide, del ex 18, c.2481+102_2646+31 del, Enzyme Replacement Therapy, Acetonitrile, GSD, Glycogen Storage Disease, Molecular Biology, BAB, 030304 developmental biology, Infantile-Onset Pompe disease, business.industry, PD, Pompe Disease, BAB, Butyl-4-aminobenzoate, ACN, Internal Standard, Limit of Quantification, del ex 18, SPE, Solid Phase Extraction, lcsh:Biology (General), IS, CRIM, Cross Immune Reactive Material, GVUS, Genetic Variant of Unknown Significance, Genetic Variant of Unknown Significance, SPE, business, LOQ, Limit of Quantification, Butyl-4-aminobenzoate, c.2481+102\₂646+31 del
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::698d97b754414656fb5907757deff3c4
https://hal.archives-ouvertes.fr/hal-02902519 -
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المؤلفون: Anna K. Paschall, Kristen L. Deak, Ghada Hijazi, Areeg El-Gharbawy, Brian Smith, Surekha Pendyal, Stephanie Austin, Priya S. Kishnani, Sarah P. Young, Tracy Boggs, Andrew J. Muir, Laura E. Case, Sathya Amarasekara
المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100821-(2021)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: Medicine (General), LDL, Low density lipoproteins, Cirrhosis, HDL, High density lipoprotein, MRI, Magnetic resonance imaging, Endocrinology, Diabetes and Metabolism, Cardiomyopathy, Glycogen storage disease type III, Biochemistry, Glycogen storage disease type III (GSD III), Liver disease, Endocrinology, and myopathy, Biology (General), GDE, Glycogen debrancher enzyme, LT, liver transplantation, Ejection fraction, TGs, Triglycerides, CPK, Creatine phosphokinase, US, Ultrasound, Biomarker (medicine), GGT, Gamma glutamyl transferase, medicine.symptom, AST, Aspartate aminotransferase, Research Paper, GSD, Glycogen storage disease, medicine.medical_specialty, QH301-705.5, BMI, Body mass index, CEA, Carcinoembryonic antigen, Asymptomatic, AFP, Alpha-fetoprotein, R5-920, Internal medicine, CT scan, Computerized tomography scan, Genetics, medicine, Molecular Biology, BG, Blood glucose, business.industry, Glc4, Glucose tetrasaccharide, ALT, Alanine aminotransferase, Muscle weakness, DM, Diabetes mellitus, Left ventricular hypertrophy (LVH), medicine.disease, Hypoglycemia, business
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المؤلفون: Sarah P, Young, Aleena, Khan, Ela, Stefanescu, Andrea M, Seifts, Ghada, Hijazi, Stephanie, Austin, Priya S, Kishnani
المصدر: JIMD Reports
مصطلحات موضوعية: Research Report, uncooked cornstarch, Hex4, biomarker, Research Reports, Glc4, 24‐hour urine, glucose tetrasaccharide, glycogen storage disease type III
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9كتاب
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10Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease☆
المؤلفون: Ni-Chung Lee, Wen Hui Tsai, Yin-Hsiu Chien, Pao Chin Chiu, Dwight D. Koeberl, Chaw Liang Chang, Fuu Jen Tsai, Wuh-Liang Hwu
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 31-35 (2017)مصطلحات موضوعية: 0301 basic medicine, CRIM, cross-reactive immunologic material, 030105 genetics & heredity, NBS, newborn screening, SCT, 4-stair climb test, 0302 clinical medicine, Endocrinology, 6-Min walk test, GMFM, Gross Motor Function Measure, lcsh:QH301-705.5, CI-MPR, cation-independent mannose-6-phosphate receptor, lcsh:R5-920, GAA, acid alpha-glucosidase, Pompe disease, Enzyme replacement therapy, ERT, enzyme replacement therapy, Glc4, glucose tetrasaccharide, Cohort, Ambulatory, medicine.symptom, lcsh:Medicine (General), LOPD, late-onset Pompe disease, AE, adverse event, medicine.drug, Research Paper, medicine.medical_specialty, 6MWT, 6-minute walk test, Nausea, IOPD, infantile-onset Pompe disease, 03 medical and health sciences, Drug withdrawal, Internal medicine, Genetics, medicine, Albuterol, Creatine kinase, Adverse effect, Molecular Biology, rhGAA, recombinant human GAA, business.industry, medicine.disease, Surgery, lcsh:Biology (General), 4-Stair climb test, Adjunctive treatment, Salbutamol, business, MRI, magnetic resonance imaging, 030217 neurology & neurosurgery, CK, creatine kinase
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