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1دورية أكاديمية
المؤلفون: Thomas J. Langan, Kabir Jalal, Amy L. Barczykowski, Randy L. Carter, Molly Stapleton, Kenji Orii, Toshiyuki Fukao, Hironori Kobayashi, Seiji Yamaguchi, Shunji Tomatsu
المصدر: JIMD Reports, Vol 52, Iss 1, Pp 35-42 (2020)
مصطلحات موضوعية: alpha‐L‐iduronidase, biomarkers, glycosaminoglycans, heparan, mucopolysaccharidosis type I, newborn screening, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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المؤلفون: Kenji E. Orii, Kabir Jalal, Toshiyuki Fukao, Seiji Yamaguchi, Molly Stapleton, Hironori Kobayashi, Amy Barczykowski, Randy L. Carter, Shunji Tomatsu, Thomas J. Langan
المصدر: JIMD Reports, Vol 52, Iss 1, Pp 35-42 (2020)
JIMD Reportsمصطلحات موضوعية: Research Report, medicine.medical_specialty, heparan, lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, sulfate, Biochemistry, Genetics and Molecular Biology (miscellaneous), Gastroenterology, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Glycosaminoglycan, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Internal medicine, alpha‐L‐iduronidase, Internal Medicine, medicine, Dried blood, 030304 developmental biology, 0303 health sciences, Newborn screening, lcsh:RC648-665, business.industry, newborn screening, mucopolysaccharidosis type I, biomarkers, Research Reports, medicine.disease, Predictive value, 3. Good health, lcsh:Genetics, glycosaminoglycans, Krabbe disease, business, Iduronidase, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200bb3f079b29b27c813753a5cced040Test
https://doaj.org/article/cc419e1a9be84711aacdc66fabfc4e7dTest -
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المؤلفون: Motomichi Kosuga, Hiroyuki Ida, Yohei Sato, Masahiro Ikegami, Torayuki Okuyama, Hiroyuki Takahashi, Hiroshi Kobayashi, Masako Fujiwara, Yoshikatsu Eto, Takahiro Fukuda, Masamichi Ariga, Nei Fukasawa
المصدر: JIMD Reports ISBN: 9783662580806
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Intimal hyperplasia, business.industry, Hurler–Scheie syndrome, Central nervous system, nutritional and metabolic diseases, Context (language use), Enzyme replacement therapy, medicine.disease, Article, Pathogenesis, 03 medical and health sciences, Mucopolysaccharidosis type I, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Medicine, Tauopathy, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcf46f689f19a41794800b537beeb45fTest
https://pubmed.ncbi.nlm.nih.gov/29705972Test -
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المؤلفون: Gustavo Monteiro Viana, Vânia D'Almeida, Cinthia Castro do Nascimento, Edgar J. Paredes-Gamero
المصدر: JIMD Reports ISBN: 9783662561379
مصطلحات موضوعية: 0301 basic medicine, Cell type, Endoplasmic reticulum, Autophagy, Cellular homeostasis, Biology, Article, Cell biology, 03 medical and health sciences, Mucopolysaccharidosis type I, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Immunology, Viability assay, Signal transduction, Intracellular
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3525e4f24f892777699da2d6ae0f9c7Test
https://pubmed.ncbi.nlm.nih.gov/28220405Test -
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المؤلفون: Luz Sanches, Patricio Guerra, Adriana Linares, Sandra Ospina, Marcelo Kerstenezky, Regina Kohan, Ana Maria Martins, Juan Politei, Sergio Franco, Carmen Varas, Hernán Amartino, Jacobo Villalobos, Roberto Giugliani, Guilhermo Valadez
المصدر: JIMD Reports ISBN: 9783642177071
مصطلحات موضوعية: education.field_of_study, Pediatrics, medicine.medical_specialty, business.industry, Population, Disease, medicine.disease, Fabry disease, Article, Natural history, Clinical trial, Mucopolysaccharidosis type I, Quality of life, medicine, education, business, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::674ebcd2a7778c22aa172c1172f25123Test
https://pubmed.ncbi.nlm.nih.gov/23430837Test