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1دورية أكاديمية
المؤلفون: Laritza Martínez Rey, Tatiana Acosta Sánchez, Deynis Carmenate Naranjo, Hector Vera Cuesta
المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
مصطلحات موضوعية: Mucopolysaccharidosis, Sanfilippo syndrome, NAGLU, new mutation, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100505&tlng=enTest; https://doaj.org/toc/2326-4594Test
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المؤلفون: Rey, Laritza Martínez, Sánchez, Tatiana Acosta, Naranjo, Deynis Carmenate, Cuesta, Hector Vera
المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2021 9
مصطلحات موضوعية: Mucopolysaccharidosis, Sanfilippo syndrome, NAGLU, new mutation
وصف الملف: text/html
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المؤلفون: Hector Vera Cuesta, Laritza Martínez Rey, Tatiana Acosta Sánchez, Deynis Carmenate Naranjo
المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210013, Published: 09 AUG 2021مصطلحات موضوعية: Mutation, Medicine (General), NAGLU, business.industry, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis, Sanfilippo syndrome, medicine.disease, medicine.disease_cause, Compound heterozygosity, Phenotype, R5-920, Mucopolysaccharidosis III, Pediatrics, Perinatology and Child Health, Immunology, medicine, business, Gene, Genetics (clinical), hirsutism, new mutation
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::002b0539955a481b7aeca343ab3223ebTest
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100505&tlng=enTest -
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المصدر: Journal of Inborn Errors of Metabolism and Screening. 2:232640981454346
مصطلحات موضوعية: NEU1, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, New mutation, Dysostosis multiplex, medicine, Lysosomal storage disease, Sialidosis, Biology, medicine.disease, Molecular biology, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a45d2a3808696cd27311ea67d0343bfdTest
https://doi.org/10.1177/2326409814543468Test