المؤلفون: Dafne D G Horovitz, Márcia G Ribeiro, Angelina X Acosta, Ana C Monteiro, Jaco Botha, Roberto Giugliani

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 11 (2023)

مصطلحات موضوعية: Mucopolysaccharidosis II, Lysosomal Storage Diseases, Survival, Signs and Symptom, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://wwwTest.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942023000100304&tlng=en; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/e02f6f4e3da94bc2bd2b6d7e0796fbd9Test

المؤلفون: Daniel Eduardo Manrique Hernandez, Diana Sanchez-Peñarete, Sandra Milena Castellar-Leones, Lisseth Cabarcas-Castro

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2023)

مصطلحات موضوعية: CLN6, Neuronal ceroid lipofuscinoses, Lysosomal storage diseases, Batten disease, Variant late infantile, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://wwwTest.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942022000100601&lng=en&tlng=en; http://wwwTest.scielo.br/pdf/jiems/v10/2326-4594-jiems-10-e20220006.pdf; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/4d5c225c37a641e4878f698dc7786c8fTest

المؤلفون: Gerda Cristal Villalba Silva, Agnis Iohana Grefenhagen, Pamella Borges, Ursula Matte

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2022)

مصطلحات موضوعية: Ear development, hearing impairment, network analysis, lysosomal storage diseases, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://wwwTest.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942022000100302&tlng=en; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/cece6715eab549b6953cfa349b821cb7Test

المؤلفون: Lina Johanna Moreno Giraldo, José María Satizabal, Adalberto Sánchez Gómez

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

مصطلحات موضوعية: Computational Biology, Exome sequencing, Mucopolysaccharidosis Complex, Lysosomal Storage Diseases, Allelic Frequency, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://wwwTest.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100322&tlng=en; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/62cc1ed7053d4561895e22f5b0e6cc91Test

المؤلفون: Anibal Chertcoff, Luciana León Cejas, Cintia Marchesoni, Ricardo Reisin

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

مصطلحات موضوعية: Fabry disease, depression, X-linked disorders, lysosomal storage diseases, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://wwwTest.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100403&tlng=en; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/f593d4cd9a884a83b23b05fae5b517dcTest

المؤلفون: Daniela Arturo Terranova, Lina Johanna Moreno Giraldo, Henry Idrobo, José María Satizabal

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

مصطلحات موضوعية: Computational Biology, Gaucher Disease, GBA gene, Lysosomal Storage Diseases, Variants (DeCS), Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://wwwTest.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100313&tlng=en; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/9c6fcd621428422f890c154b24d93de4Test

المؤلفون: Roberto Giugliani, Alejandro Fainboim, Chong Ae Kim, Dafne Dain Gandelman Horovitz, Edna Tiemi Sakata, Ana Paula Damiano, Tatiana Sá Pacheco Carneiro Magalhães, Martha Solano Villareal

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)

مصطلحات موضوعية: lysosomal storage diseases, MPS, quality of life, ADL, cognition, mobility, pain, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://wwwTest.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942019000100305&tlng=en; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/b757dc0f0d074a4f9ff26605fef66175Test

المؤلفون: Lina Johanna Moreno Giraldo, Daniela Arturo Terranova, Henry Idrobo, José María Satizábal

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20200018, Published: 14 JUN 2021
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT

مصطلحات موضوعية: Genetics, education.field_of_study, Medicine (General), Gaucher Disease, Variants (DeCS), Endocrinology, Diabetes and Metabolism, Population, GBA gene, Computational Biology, Disease, Biology, Compound heterozygosity, Lysosomal Storage Diseases, R5-920, Pediatrics, Perinatology and Child Health, Genotype, Clinical significance, In patient, education, Glucocerebrosidase, Gene, Genetics (clinical)

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::945f6379104b7616fe3dcbfa9fd70fe4Test
http://wwwTest.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100313&tlng=en