المؤلفون: B Nasr- Esfahani, R Salehi, M Salehi

المصدر: Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, Vol 15, Iss 2, Pp 64-70 (2007)

مصطلحات موضوعية: IDUA(α-L-iduronidase enzyme deficiency), Mutation, MPS-I (Mucopolysaccharidosis I), Isfahan, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://jssu.ssu.ac.ir/browse.php?a_id=720&slc_lang=en&sid=1&ftxt=1; https://doaj.org/toc/2228-5741; https://doaj.org/toc/2228-5733

URL الوصول: https://doaj.org/article/17f242e87eed4e1e9f4465a79f82200c

المؤلفون: H.A. Khatamova, V.Yu. Kazakov, A.N. Slateckaya, M.V. Zazhivikhina, V.P. Vorontsova, S.V. Mikhailova, V.I. Fetisova, E.V. Skorobogatova

المصدر: Pediatria. Journal named after G.N. Speransky. 97:212-216

مصطلحات موضوعية: I mucopolysaccharidosis, business.industry, Marrow transplantation, Pediatrics, Perinatology and Child Health, Immunology, Medicine, Human leukocyte antigen, Autogenous bone, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::48303719389a35346086a9c24f41eec9
https://doi.org/10.24110/0031-403x-2018-97-5-212-216

المؤلفون: Cospain, Auriane, Dubourg, Christèle, Gastineau, Swellen, Pichard, Samia, Gandemer, Virginie, Bonneau, Jacinthe, de Tayrac, Marie, Moreau, Caroline, Odent, Sylvie, Pasquier, Laurent, Damaj, Lena, Lavillaureix, Alinoë

المساهمون: CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Nutrition, Métabolismes et Cancer (NuMeCan), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Research and Innovation Department of the Rennes University Hospital, Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Jonchère, Laurent

المصدر: Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100621-(2020)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Elsevier, 2020, 24, pp.100621. ⟨10.1016/j.ymgmr.2020.100621⟩
Molecular Genetics and Metabolism Reports, 2020, 24, pp.100621. ⟨10.1016/j.ymgmr.2020.100621⟩

مصطلحات موضوعية: Exome sequencing, MYH11, Case Report, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, SFs, Secondary findings, Incidental finding, GAGs, glycosaminoglycans, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, CIPO, Chronic intestinal pseudoobstruction, ENT, Ear, Nose and Throat, lcsh:QH301-705.5, Chronic intestinal pseudoobstruction, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, lcsh:R5-920, Hurler-Scheie disease, IFs, Incidental findings, Mucopolysaccharidosis type I, ACMG, American College of Medical Genetics and Genomics, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, [SDV.MHEP.HEG] Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, ERT, enzyme replacement therapy, HSTC, hematopoietic stem cell transplantation, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, lcsh:Biology (General), MPS-I, mucopolysaccharidosis type I, lcsh:Medicine (General)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::efcb03bd66f6738c1b9440e52bf8361d
http://www.sciencedirect.com/science/article/pii/S2214426920300677

المؤلفون: Elsa Shapiro, Igor Nestrasil, Richard S. Ziegler, Alia Ahmed, Chester B. Whitley, Julie B. Eisengart, Jeanine Jarnes, Kathleen A. Delaney

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 64-68 (2017)

مصطلحات موضوعية: Newborn screening, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, Mucopolysaccharidosis, MPS IH, Mucopolysaccharidosis Type IH, Hurler Syndrome, Cognitive decline, Case Report, CNS, central nervous system, MPS, Mucopolysaccharidosis, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Endocrinology, 030225 pediatrics, Genetics, medicine, Hurler syndrome, lcsh:QH301-705.5, Molecular Biology, lcsh:R5-920, MPS I, Mucopolysaccharidosis Type I, business.industry, nutritional and metabolic diseases, HCT, hematopoietic cell transplantation, Enzyme replacement therapy, medicine.disease, 3. Good health, Surgery, Transplantation, lcsh:Biology (General), lcsh:Medicine (General), business, MRI, magnetic resonance imaging, Neurocognitive, 030217 neurology & neurosurgery, ERT, Enzyme replacement therapy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9146ee9169f6607a8006d5cb07c7dbf
https://doi.org/10.1016/j.ymgmr.2017.07.012

المؤلفون: Clark R. Robinson, William C. Roberts

المصدر: The American Journal of Cardiology. 120:2113-2118

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Mucopolysaccharidosis I, Mucopolysaccharidosis, medicine.medical_treatment, 030204 cardiovascular system & hematology, 03 medical and health sciences, Fatal Outcome, 0302 clinical medicine, Aortic valve replacement, Valve replacement, Internal medicine, medicine, Humans, Mitral Valve Stenosis, In patient, Hurler syndrome, Heart Valve Prosthesis Implantation, I mucopolysaccharidosis, business.industry, Aortic Valve Stenosis, Middle Aged, medicine.disease, 030228 respiratory system, Echocardiography, Aortic Valve, Aortic valve stenosis, cardiovascular system, Cardiology, Mitral Valve, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44b8bf7006eb322df7ce08c7dcf22c23
https://doi.org/10.1016/j.amjcard.2017.08.001

المؤلفون: Stefano Bruni, Alexander Broomfield, Christine Lavery

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 67-73 (2016)

مصطلحات موضوعية: Pediatrics, Disease, GAG, glycosaminoglycan, US, United States, 0302 clinical medicine, Endocrinology, Diagnosis, Mucopolysaccharidosis I, skin and connective tissue diseases, lcsh:QH301-705.5, Ped or P, pediatrician, lcsh:R5-920, MPS I, mucopolysaccharidosis Type I, HSCT, hematopoietic stem cell transplant, Enzyme replacement therapy, Rheum or R, rheumatologist, ERT, enzyme replacement therapy, Gen/Met Dis, geneticist/metabolic disease specialist, Pulm, pulmonologist, Rheumatoid arthritis, lcsh:Medicine (General), Research Paper, MPS I, medicine.medical_specialty, Education, 03 medical and health sciences, Mucopolysaccharidosis type I, LA, Latin America, 030225 pediatrics, Genetics, medicine, Gen Pract, general practitioner, Molecular Biology, Ophth, ophthalmologist, Disease burden, Ortho, orthopedist, business.industry, IDUA, α-l-iduronidase, Card, cardiologist, medicine.disease, Surgery, EU, Europe, Treatment, Transplantation, lcsh:Biology (General), Neuro, neurologist, Differential diagnosis, ENT, ear nose and throat, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31ddd40e81a2b2faf72a01bbce4cc2d9

المؤلفون: Leonor Arranz, Luis Aldámiz-Echevarría

المصدر: Molecular Genetics and Metabolism Reports, Vol 3, Iss C, Pp 88-91 (2015)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, 6MWT, 6-minute walk test, MSCA, McCarthy Scales of Children's Abilities, medicine.medical_treatment, Hematopoietic transplant, Anti-laronidase antibodies, Case Report, IV - Intravenous, Hematopoietic stem cell transplantation, WISC-IV, Wechsler Intelligence Scale for Children — IV, GAGs, glycosaminoglycans, HSCT, hematopoietic stem cell transplantation, Endocrinology, FVC - Forced vital capacity, Genetics, medicine, Cognitive deterioration, Laronidase, X ray radiograph, Hurler syndrome, TMT (A), Trail Making Test Part A, Molecular Biology, OSAHS, Obstructive Sleep Apnea–Hypopnea Syndrome, lcsh:QH301-705.5, lcsh:R5-920, business.industry, FEV0.5, forced expiratory volume in 0.5 s, ORL, otorhinolaryngology, X-ray, radiograph, nutritional and metabolic diseases, Enzyme replacement therapy, medicine.disease, MMEF, maximum midexpiratory flow, Haematopoiesis, surgical procedures, operative, Mucopolysaccharosidosis type I, lcsh:Biology (General), Immunology, FVC, forced vital capacity, MRI, magnetic Resonance Imaging, MPS-I, mucopolysaccharidosis type I, business, lcsh:Medicine (General), IV, intravenous, ERT, Enzyme replacement therapy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdbb9b9cad464940686685d634cfcf1f
http://www.sciencedirect.com/science/article/pii/S2214426915300070

المؤلفون: Mihir M. Thacker, Yoshimichi Sai, Paul L. Martin, William G. Mackenzie, Robert W. Mason, Jozef Zustin, Eriko Yasuda, Kristen Ruhnke, Shunji Tomatsu, Tadao Orii, Tsutomu Shimada

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 65-76 (2015)

مصطلحات موضوعية: AB/PAS, alcian blue/periodic acid–Schiff, Pathology, LM, light microscopy, ADL, medicine.medical_treatment, BMI, body mass index, MPS, mucopolysaccharidoses, Hematopoietic stem cell transplantation, GAG, glycosaminoglycan, Saf. O/FG, safranin O/fast green, AIDHC, Alfred I. duPont Hospital for Children, HSCT, hematopoietic stem cell transplantation, MPS I, mucopolysaccharidosis I, Endocrinology, LC–MS/MS, liquid chromatography–tandem mass spectrometry, Lysosomal storage disease, IS, internal standard, Hurler syndrome, lcsh:QH301-705.5, lcsh:R5-920, HE, hematoxylin and eosin, CDC, the centers for disease control and prevention, 3. Good health, ECM, extracellular matrix, ERT, enzyme replacement therapy, ADL, activity of daily living, HSCT, Skeletal dysplasia, Biomarker (medicine), AB, alcian blue, Cognitive function, lcsh:Medicine (General), IRB, institutional review board, medicine.medical_specialty, HS, heparan sulfate, CNS, central nervous system, Mucopolysaccharidosis type I, Genetics, medicine, CI/VG, colloidal iron/van Gieson, Molecular Biology, Pathological, EM, electron microscopy, business.industry, IDUA, α-l-iduronidase, medicine.disease, BMT, bone marrow transplantation, Surgery, QOL, quality of life, lcsh:Biology (General), Dysplasia, SI:Therapy, Histopathology, DS, dermatan sulfate, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::762cd6b1131f3207179cc755dc5092d0
http://europepmc.org/articles/PMC4335359

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المؤلفون: V. Fuzier

المصدر: Prise en charge des maladies rares en anesthésie et analgésie obstétricales

مصطلحات موضوعية: I mucopolysaccharidosis, business.industry, Medicine, business, Virology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::31d35b1c65cea186c7727df07060f909
https://doi.org/10.1016/b978-2-294-74764-9.00139-4