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://wwwTest.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100505&tlng=en; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/37af7833bf5643b5906c0ec55340dea0Test

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 2021

مصطلحات 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://wwwTest.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100505&tlng=en