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المؤلفون: Drago Bratkovic, Pascal Laforêt, Barry J. Byrne, William Lang, Robert D. Henderson, Claude Desnuelle, Richard J. Barohn, Mark Roberts, Jonathon LeBowitz, Tarekegn Hiwot, Bruce A. Barshop, Derralynn Hughes, Eugen Mengel
المصدر: Molecular Genetics and Metabolism. 111:S29
مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Late onset, Disease, medicine.disease, Biochemistry, Virology, Metachromatic leukodystrophy, Endocrinology, Genetics, medicine, Dementia, Juvenile, Age of onset, business, Molecular Biology, Developmental regression
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ef2eb916faf2e532fb4aa4ffd1b7c341Test
https://doi.org/10.1016/j.ymgme.2013.12.050Test -
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المؤلفون: Loren D.M. Pena, Ans van der Ploeg, Alan Pestronki, Jean Pouget, Shafeeq Ladha, Claude Desnuelle, John Vissing, Kerry Culm-Merdek, Peter Young, Philip Van Damme, Jaya Trivedi, Pascal Laforêt, Gerard Short, Volker Straub, Beth L. Thurberg, Richard Baron, Ozlem Goker-Alpan, Benedikt Schoser, Eugen Mengel, Barry J. Byrne
المصدر: Publons
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Late onset, Enzyme replacement therapy, Disease, Biochemistry, Gastroenterology, Therapy naive, Endocrinology, Internal medicine, Genetics, medicine, Physical therapy, business, Molecular Biology, Alglucosidase alfa, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::529908d6a6c0f9892dbcacdb43dff257Test
https://publons.com/publon/30519251Test/