المؤلفون: Carol Mansfield, Marco Boeri, Josh Coulter, Eileen Baranowski, Susan Sparks, Kristina An Haack, Alaa Hamed

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Neuromuscular disease, Pompe disease, Genetic test, Diagnosis, Screening, Discrete-choice experiment, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/4f87b512d9d74070b33b0313593413c4Test

المؤلفون: Priya Kishnani, David Stockton, Andreas Hahn, Juan Llerena, Alexander Broomfield, Julie Batista, Meredith Foster, Kathryn Wilson, Susan Sparks, Hannerieke van den Hout, Yin-Hsiu Chien

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100906- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424000529Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/d259241bf6ca46faaee2ac9e829f486bTest

المؤلفون: Alaa Hamed, Kristina An Haack, Chad Gwaltney, Eileen Baranowski, Andrew Stewart, Robert Krupnick, Margaret Tyler, Susan Sparks, Jean Paty

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Late-onset Pompe disease, PROs, Conceptual model, Symptoms, Patient experience, Functional impacts, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/19214d500bec44159cf3a2fb553915bdTest

المؤلفون: Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Next-generation sequencing, Limb-girdle muscle weakness, Pompe disease, Latin America, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/7238d780e8914ec39d31737fd18f471eTest

المؤلفون: Alaa Hamed (3227511), Kristina An Haack (2284177), Chad Gwaltney (9138551), Eileen Baranowski (11555227), Andrew Stewart (243136), Robert Krupnick (5171255), Margaret Tyler (11555230), Susan Sparks (11555233), Jean Paty (4377694)

مصطلحات موضوعية: Medicine, Sociology, Immunology, Science Policy, Biological Sciences not elsewhere classified, Late-onset Pompe disease, PROs, Conceptual model, Symptoms, Patient experience, Functional impacts, Lysosomal storage disorders

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_2_of_Qualitative_interviews_to_improve_patient-reported_outcome_measures_in_late-onset_Pompe_disease_the_patient_perspective/16800322Test

الإتاحة: https://doi.org/10.6084/m9.figshare.16800322.v1Test

المؤلفون: Alaa Hamed (3227511), Kristina An Haack (2284177), Chad Gwaltney (9138551), Eileen Baranowski (11555227), Andrew Stewart (243136), Robert Krupnick (5171255), Margaret Tyler (11555230), Susan Sparks (11555233), Jean Paty (4377694)

مصطلحات موضوعية: Medicine, Sociology, Immunology, Science Policy, Biological Sciences not elsewhere classified, Late-onset Pompe disease, PROs, Conceptual model, Symptoms, Patient experience, Functional impacts, Lysosomal storage disorders

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Qualitative_interviews_to_improve_patient-reported_outcome_measures_in_late-onset_Pompe_disease_the_patient_perspective/16800319Test

الإتاحة: https://doi.org/10.6084/m9.figshare.16800319.v1Test

المؤلفون: Priya S. Kishnani, David Kronn, Anaïs Brassier, Alexander Broomfield, James Davison, Si Houn Hahn, Satoko Kumada, François Labarthe, Hirotaka Ohki, Samia Pichard, S. Grace Prakalapakorn, Kristina An Haack, Barbara Kittner, Xianzhang Meng, Susan Sparks, Catherine Wilson, Atef Zaher, Yin-Hsiu Chien

المصدر: Genetics in Medicine. 25:100328

مصطلحات موضوعية: Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dfd2b700aa0f6b5df23e98bb704be7fTest
https://doi.org/10.1016/j.gim.2022.10.010Test

المؤلفون: Marcondes C. França, Abayuba Perna, Nathan Thibault, Madhuri Hegde, Jorge A. Bevilacqua, Roberto Araujo, Kristl G. Claeys, Alberto Dubrovsky, Nadia Daba, Maria del Rosario Guecaimburu Ehuletche, Magali Periquet, Volker Straub, Steven Vargas, Susan Sparks, Roberta Faria

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Male, lcsh:Medicine, Disease, Research & Experimental Medicine, ENZYME REPLACEMENT THERAPY, ALGLUCOSIDASE ALPHA, Medicine, Pharmacology (medical), Muscular dystrophy, Genetics (clinical), Genetics & Heredity, Muscle Weakness, Glycogen Storage Disease Type II, High-Throughput Nucleotide Sequencing, Pompe disease, General Medicine, ASSOCIATION, Middle Aged, PREVALENCE, Medicine, Research & Experimental, ACID ALPHA-GLUCOSIDASE, Limb-girdle muscle weakness, Female, Life Sciences & Biomedicine, Brazil, Adult, medicine.medical_specialty, Proximal muscle weakness, Adolescent, Limb girdle, CONGENITAL DISORDERS, DIAGNOSIS, SGCG, Young Adult, Internal medicine, Humans, Mexico, SGCA, Science & Technology, business.industry, DYSTROPHIES, Research, lcsh:R, Sequence Analysis, DNA, medicine.disease, Human genetics, HYPERCKEMIA, Latin America, Muscular Dystrophies, Limb-Girdle, ONSET, Mutation, Next-generation sequencing, Differential diagnosis, business

وصف الملف: Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64d4c75da510790e75daea668d33e21eTest
https://doaj.org/article/7238d780e8914ec39d31737fd18f471eTest

المؤلفون: Yang Zhao, Raymond Y. Wang, Nancy D. Leslie, Priya S. Kishnani, David Kronn, Jennifer L. Goldstein, John W. Day, James B. Gibson, Kristina An Haack, Susan Sparks, David W. Stockton, Pranoot Tanpaiboon, Loren D.M. Pena, Si Houn Hahn, Richard Hillman, Michael J. Gambello

المصدر: Genetics in Medicine

مصطلحات موضوعية: Male, medicine.medical_specialty, alglucosidase alfa, Adolescent, Genotype, Disease, glycogenosis type 2, Article, Pulmonary function testing, Cohort Studies, Internal medicine, Humans, Medicine, Gross motor function, late-onset Pompe disease (LOPD), Enzyme Replacement Therapy, Prospective Studies, Child, Alglucosidase alfa, Genetics (clinical), Glycogen Storage Disease Type II, business.industry, Infant, GAA pathogenic variants, alpha-Glucosidases, Baseline data, United States, infantile-onset Pompe disease (IOPD), Phenotype, Child, Preschool, Cohort, Female, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23e5f6bddac6c1bf107ecaba20545014Test
https://doi.org/10.1038/s41436-019-0527-9Test

المؤلفون: David Kronn, Kristina An Haack, James B. Gibson, Si Houn Hahn, Meredith C. Foster, Raymond Y. Wang, Pranoot Tanpaiboon, David W. Stockton, Priya S. Kishnani, Barry J. Byrne, Steven D. Colan, Loren D.M. Pena, Judith Johnson, Susan Sparks, Nancy D. Leslie, Richard Hillman

المصدر: Cardiology in the young. 32(3)

مصطلحات موضوعية: medicine.medical_specialty, Genotype, Cardiomyopathy, Cardiomegaly, Cohort Studies, Internal medicine, medicine, Humans, Enzyme Replacement Therapy, Alglucosidase alfa, medicine.diagnostic_test, business.industry, Glycogen Storage Disease Type II, General Medicine, Enzyme replacement therapy, medicine.disease, Confidence interval, Blood pressure, Phenotype, Concomitant, Pediatrics, Perinatology and Child Health, Cohort, Cardiology, Cardiology and Cardiovascular Medicine, business, Electrocardiography, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c49cc75035795f7f43d93fd7526957Test
https://pubmed.ncbi.nlm.nih.gov/34420548Test