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1
المؤلفون: Florencia Giliberto, Alberto Dubrovsky, Lilia Mesa, Jose Corderi, Micaela Carcione, Leonela Natalia Luce, Chiara Mazzanti
المصدر: Neuromuscular Disorders. 31:S83
مصطلحات موضوعية: Genetics, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Genetics (clinical)
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2
المؤلفون: D. Flores, Alberto Dubrovsky, Jose Corderi, F. Chloca, A. Jauregui
المصدر: Neuromuscular Disorders. 28:S136-S137
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
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3
المؤلفون: Lisa Wahlgren, Cameron Kennedy, Betsy Malkus, Justin Malane, Casey Nguyen, Anjali Gupta, Erica Goude, Linda Johnson, Heather Gordish-Dressman, Victoria Rodriguez, Marcia Margolis, Susan Blair, Angela Gonzales, David D. Kilmer, Lori Walker, Paola Canelos, Julaine Florence, Amy Erickson, Jay Han, Angela Chiu, Laila Eliasoph, Nancy L. Kuntz, Gareth Parry, Eugenio Monasterio, Luz Andreone, Valentina Morettini, Zoë Sund, Avital Cnaan, Jason Weimer, Lucia Chen, Krista Coleman-Wood, Alina Nicorici, Ann Hoffman, Michelle Cregan, Hanna Kolski, Lauren P. Morgenroth, Richard Webster, Lorena Levi, C. Chidambaranathan, Paul Golumbak, Dani Villano, Reiko Shimizu, Stephanie Wicks, Caitlin Wright, Naomi Bartley, Alessandro Molteni, Anne Christine Alhander, Renee Renna, Hoda Abdel-Hamid, Christopher G. Bise, Duygu Selcen, Glenn Lopate, Debbie Yaffe, Suresh Kumar, K. Carroll, Rachel Young, Jennifer Thannhauser, Pura Fuste, David Walk, Ann Craig, Rachel A. Kennedy, T. Duong, Karen Jones, Elizabeth Hosaki, Elana Wisband, Robert S. McNeil, M. Al-Lozi, Wendy Korn-Petersen, Kristy Rose, Paula R. Clemens, Katy DeValle, Luca Capone, Jeanine Schierbacker, Catherine Seiner, Marissa Birkmeier, Robert Casper, Antonio Arrieta, Anna Karin Kroksmark, Sarah Kaminski, Mehrnaz Yousefi, Vivienne Harris, Maria Beneggi, Andrew J. Kornberg, Sheila Espada, Barbara Grillo, Cameron E. Naughton, Merete Glick, Christopher F. Spurney, Adina Bar Leve, Nanette C. Joyce, Jose Corderi, Ulrika Sterky, Carlos A. Luciano, Cassandra Feliciano, A. Zimmerman, Anne Berit Ekström, Judy Clift, Meegan Barrett-Adair, F. Hu, Brenda Deliz, Charlie Wulf, Lilia Mesa
المصدر: Muscle & Nerve. 50:250-256
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, Physiology, business.industry, Duchenne muscular dystrophy, Cardiomyopathy, medicine.disease, nervous system diseases, Natural history, Cellular and Molecular Neuroscience, Physiology (medical), mental disorders, Physical therapy, medicine, In patient, Neurology (clinical), business, Natural history study
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4
المؤلفون: F. Chloca, D. Flores, Alberto Dubrovsky, A. Jauregui, Jose Corderi, Lilia Mesa
المصدر: Neuromuscular Disorders. 28:S39
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Duchenne muscular dystrophy, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.disease, business, Genetics (clinical)
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5
المصدر: Muscle & Nerve. 47:594-600
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Proximal muscle weakness, Physiology, business.industry, Disease progression, Signs and symptoms, Disease, Enzyme replacement therapy, Disease cluster, Surgery, Cellular and Molecular Neuroscience, Muscle nerve, Physiology (medical), Medicine, Neurology (clinical), business
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6
المؤلفون: Min Lin, Priya S. Kishnani, Alberto Dubrovsky, Jose Corderi, Harrison N. Jones
المصدر: Muscle & Nerve. 44:897-901
مصطلحات موضوعية: Weakness, Pediatrics, medicine.medical_specialty, Physiology, business.industry, medicine.disease, Dysphagia, Asymptomatic, Cellular and Molecular Neuroscience, Dysarthria, medicine.anatomical_structure, Tongue, Physiology (medical), Glycogen storage disease type II, Physical therapy, Medicine, Neurology (clinical), medicine.symptom, Differential diagnosis, Age of onset, business
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7
المؤلفون: Stephanie Austin, Ramin Javan, Priya S. Kishnani, Alberto Dubrovsky, Jose Corderi, Jeffrey J. Horvath, Mustafa R. Bashir, Laura E. Case
المصدر: Muscle & Nerve. 48:293-295
مصطلحات موضوعية: Adult, Weakness, Pathology, medicine.medical_specialty, Physiology, Quantitative magnetic resonance imaging, Physical examination, Biology, Severity of Illness Index, Correlation, Cellular and Molecular Neuroscience, Physiology (medical), Image Processing, Computer-Assisted, medicine, Humans, Glycogen storage disease, Muscular dystrophy, Amyotrophic lateral sclerosis, Process (anatomy), medicine.diagnostic_test, Muscles, Neuromuscular Diseases, medicine.disease, Magnetic Resonance Imaging, Female, Neurology (clinical), medicine.symptom
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8
المؤلفون: Ricardo Reisin, Marcelo Rugiero, Ana Lia Taratuto, Nélida Ferradás, Fabiana Lubieniecki, Marisa Zgaga, Marina Szlago, Daniel Carlés, Claudio Mazia, Andrea Schenone, Soledad Monges, Ernesto Fulgenzi, Lilia Mesa, João Bosco Pesquero, Alejandro Fainboim, Alberto Dubrovsky, Jose Corderi, Eduardo L De Vito, Hernan Amartino, Norberto Guelbert
مصطلحات موضوعية: Enfermedad de Pompe, CIENCIAS MÉDICAS Y DE LA SALUD, Glucogenosis tipo ii, business.industry, Neurología Clínica, Medicina Clínica, Alfa-glucosidasa ácida, Deficiencia de maltasa ácida lisosomal, Neurology, Consenso, Sistema Respiratorio, Medicine, Neurology (clinical), business, Humanities, Terapia de reemplazo enzimático
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da9d0411dd99a2d7d0e70c3486a40546
http://www.sciencedirect.com/science/article/pii/S1853002814000081 -
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المصدر: Musclenerve. 47(4)
مصطلحات موضوعية: Adult, Male, Delayed Diagnosis, Muscle Weakness, Glycogen Storage Disease Type II, alpha-Glucosidases, Neuromuscular Diseases, Middle Aged, Diagnosis, Differential, Humans, Enzyme Replacement Therapy, Female, Respiratory Insufficiency, Aged
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10
المصدر: Musclenerve. 44(6)
مصطلحات موضوعية: Adult, Male, Young Adult, Muscle Weakness, Phenotype, Adolescent, Glycogen Storage Disease Type II, Humans, Female, Age of Onset, Middle Aged, Aged, Tongue Diseases