المؤلفون: Anna Malekkou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Carolina Sismani, Edwin H. Jacobs, George J.G. Ruijter, Violetta Anastasiadou, Sofia Ourani, Emilia Athanasiou, Anthi Drousiotou, Olga Grafakou, Petros P. Petrou

المصدر: Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100997- (2023)

مصطلحات موضوعية: Glycogen storage disorder, Pompe disease, Exome sequencing, Case report, Variants, Acid alpha glucosidase, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000435; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/1393d2d27d9e4b658ab162df0508fc9f

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المؤلفون: Han-Hyuk Lim, Haiqing Yi, Takashi K. Kishimoto, Fengqin Gao, Baodong Sun, Priya S. Kishnani

المصدر: Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 18-22 (2017)

مصطلحات موضوعية: Pompe disease, Acid alpha-glucosidase, Enzyme replacement therapy, Tolerogenic nanoparticles, Rapamycin, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426917300320; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/6982ba32545843df92fdc44f63a5bdd2

المؤلفون: Deeksha S. Bali, Jennifer L. Goldstein, Catherine Rehder, Zoheb B. Kazi, Kathryn L. Berrier, Jian Dai, Priya S. Kishnani

المصدر: Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 76-79 (2015)

مصطلحات موضوعية: Acid alpha-glucosidase, Cross reactive immunological material, Western blot analysis, Pompe disease, Enzyme replacement therapy, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426915300471; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/68affffbf1ab48a4b6d3c7d268c57d59

المؤلفون: Yin-Hsiu Chien, Siew Lee Wong, Fuu Jen Tsai, Wen Hui Tsai, Ni-Chung Lee, Chaw Liang Chang, Pao Chin Chiu, Wuh-Liang Hwu, Yen Yin Chou

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 23, Iss, Pp-(2020)

مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, CRIM, cross-reactive immunological material, Disease, PDMS-2, Peabody Developmental Motor Scale, Second Edition, 03 medical and health sciences, NBS, newborn screening, 0302 clinical medicine, Endocrinology, Dosage, ITI, immune tolerance induction, Early treatment, Genetics, Medicine, Dosing, GMFM, Gross Motor Function Measure, PD, Pompe disease, lcsh:QH301-705.5, Molecular Biology, Alglucosidase alfa, lcsh:R5-920, 0303 health sciences, IOPD, infantile-onset PD, business.industry, GAA, acid alpha-glucosidase, 030305 genetics & heredity, Pompe disease, Retrospective cohort study, Enzyme replacement therapy, uGlc4, urine glucose tetrasaccharide, ERT, enzyme replacement therapy, lcsh:Biology (General), Cohort, Biomarker (medicine), lcsh:Medicine (General), business, 030217 neurology & neurosurgery, CK, creatine kinase, medicine.drug, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5670903d577ddd63b789dea1cfab272d
http://europepmc.org/articles/PMC7193123

المؤلفون: Kathryn L. Berrier, Zoheb B. Kazi, Jian Dai, Priya S. Kishnani, Jennifer L. Goldstein, Deeksha Bali, Catherine Rehder

المصدر: Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 76-79 (2015)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Prognostic factor, Cross reactive immunological material, Short Communication, Acid alpha-glucosidase, CRIM, cross-reactive immunological material, Disease, Peripheral blood mononuclear cell, 03 medical and health sciences, Endocrinology, ITI, immune tolerance induction, Western blot, Genotype, Genetics, medicine, In patient, lcsh:QH301-705.5, Molecular Biology, 030304 developmental biology, PBMCs, peripheral blood mononuclear cells, lcsh:R5-920, 0303 health sciences, medicine.diagnostic_test, business.industry, GAA, acid alpha-glucosidase, 030305 genetics & heredity, Pompe disease, IPD, infantile Pompe disease, Enzyme replacement therapy, 3. Good health, lcsh:Biology (General), Western blot analysis, Immunology, lcsh:Medicine (General), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac89ab24e5da624e6d5cd0c1ac993eae

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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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e64331e0852e79ccf95645ab2e3e4a34
http://europepmc.org/articles/PMC5406275

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