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1دورية أكاديمية
المؤلفون: Chris Carter, Tracy Boggs, Laura E. Case, Priya Kishnani
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: glycogen storage disease type 2, lysosomal storage disease (LSD), alglucosidase alfa, avalglucosidase alfa, late-onset Pompe disease (LOPD), enzyme replacement therapy, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية 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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3دورية أكاديمية
المؤلفون: Ghada Hijazi, Anna Paschall, Sarah P. Young, Brian Smith, Laura E. Case, Tracy Boggs, Sathya Amarasekara, Stephanie L. Austin, Surekha Pendyal, Areeg El-Gharbawy, Kristen L. Deak, Andrew J. Muir, Priya S. Kishnani
المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100821- (2021)
مصطلحات موضوعية: Glycogen storage disease type III (GSD III), Hypoglycemia, Cirrhosis, Left ventricular hypertrophy (LVH), Cardiomyopathy, and myopathy, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Syed Faaiz Enam, Laura E. Case, Anna K. Paschall, Ghada Hijazi, Priya S. Kishnani, Aleena A. Khan, Michael Bowling, Stephanie Austin, Tracy Boggs
المصدر: Mol Genet Metab
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Weakness, Adolescent, Endocrinology, Diabetes and Metabolism, Electromyography, Biochemistry, Article, Manual Muscle Testing, Cohort Studies, Glycogen Storage Disease Type III, Young Adult, Endocrinology, Genetics, medicine, Humans, Whole Body Imaging, Functional ability, Child, Muscle, Skeletal, Molecular Biology, Wasting, Physical Therapy Modalities, Muscle Weakness, medicine.diagnostic_test, business.industry, Infant, Newborn, Muscle weakness, Infant, Magnetic resonance imaging, Middle Aged, Magnetic Resonance Imaging, Cross-Sectional Studies, Child, Preschool, Cohort, Physical therapy, Female, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab48e8ad1c4adfe92e82ce1faadc3844
https://europepmc.org/articles/PMC8667569/ -
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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: Aleena A. Khan, Stephanie Austin, Mihaela Stefanescu, Samuela A. Fernandes, Laura E. Case, Michael Bowling, Priya S. Kishnani, Tracy Boggs
المصدر: JIMD Reports
مصطلحات موضوعية: Research Report, medicine.medical_specialty, late‐onset Pompe disease, Endocrinology, Diabetes and Metabolism, Disease, Biochemistry, Genetics and Molecular Biology (miscellaneous), muscle function testing, whole‐body magnetic resonance imaging, Internal medicine, Internal Medicine, Medicine, muscle strength testing, Alglucosidase alfa, Newborn screening, medicine.diagnostic_test, business.industry, newborn screening, WBMRI, Pompe disease, Magnetic resonance imaging, Research Reports, Enzyme replacement therapy, Gait, IPD, Quartile, infantile Pompe disease, LOPD, Intramuscular fat, business, medicine.drug
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المؤلفون: Mihaela Stefanescu, Michael Bowling, Aleena A. Khan, Priya S. Kishnani, Tracy Boggs, Stephanie Austin, Laura E. Case
المصدر: Journal of inherited metabolic diseaseREFERENCES. 43(3)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Urinary system, Functional testing, Late onset, Disease, Severity of Illness Index, 03 medical and health sciences, Young Adult, Internal medicine, Genetics, Medicine, Humans, Whole Body Imaging, Muscle Strength, Age of Onset, Myopathy, Child, Muscle, Skeletal, Physical Examination, Genetics (clinical), 030304 developmental biology, Aged, 0303 health sciences, Muscle Weakness, medicine.diagnostic_test, business.industry, Glycogen Storage Disease Type II, 030305 genetics & heredity, Muscle weakness, Magnetic resonance imaging, Middle Aged, Gait, Magnetic Resonance Imaging, Cardiology, Female, medicine.symptom, business, Follow-Up Studies
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المؤلفون: Michael Bowling, Priya S. Kishnani, Tracy Boggs, Stephanie Austin, Laura E. Case, Aleena A. Khan, Mihaela Stefanescu
المصدر: Molecular Genetics and Metabolism. 129:S88
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Whole body mri, Late onset, Disease, Biochemistry, Correlation, Endocrinology, Genetics, Medicine, Radiology, business, Molecular Biology
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