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المؤلفون: R V Ponomarev, Elena Lukina
المصدر: Терапевтический архив, Vol 93, Iss 7, Pp 830-836 (2021)
مصطلحات موضوعية: 0301 basic medicine, History, Endocrinology, Diabetes and Metabolism, Disease, Bioinformatics, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Progressive disorder, gaucher disease, Medicine, Humans, Clinical phenotype, lysosomal storage diseases, Sphingolipids, business.industry, glucocerebrosidase, General Medicine, Enzyme replacement therapy, Sphingolipid, 030104 developmental biology, Phenotype, 030220 oncology & carcinogenesis, Glucosylceramidase, Family Practice, business, Glucocerebrosidase, enzyme replacement therapy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6061ce8b94f41e1eda560ed7685ed924Test
https://ter-arkhiv.ru/0040-3660/article/viewFile/76364/56963Test -
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المؤلفون: Norio Sakai, Yoko Lee, Kazuya Tsuboi, Junko Matsuda, Naoko Kakee, Koji Kato, Yoshikatsu Eto, Nobuyuki Shimozawa, Ritei Uehara, Yuta Koto, Yoshikazu Nakamura, Torayuki Okuyama, Kimitoshi Nakamura, Hiroshi Kobayashi, Aya Narita
المصدر: Molecular Genetics and Metabolism. 133:277-288
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Disease, 030105 genetics & heredity, Biochemistry, Peroxisomal Disorders, Young Adult, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Endocrinology, Japan, Surveys and Questionnaires, Peroxisomal disorder, Mucopolysaccharidosis I, Prevalence, Genetics, Humans, Medicine, Enzyme Replacement Therapy, Medical history, Child, Molecular Biology, Aged, Aged, 80 and over, business.industry, Hematopoietic Stem Cell Transplantation, Infant, Newborn, Infant, Enzyme replacement therapy, Middle Aged, medicine.disease, Fabry disease, Lysosomal Storage Diseases, Metachromatic leukodystrophy, Child, Preschool, Epidemiological Monitoring, Female, Adrenoleukodystrophy, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74ef9b80e1feb822e36d89cba3ee6eccTest
https://doi.org/10.1016/j.ymgme.2021.05.004Test -
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المؤلفون: Emily C. Lisi, Nadia Ben Ali
المصدر: Journal of Genetic Counseling. 30:1544-1558
مصطلحات موضوعية: Adult, Genetic counseling, media_common.quotation_subject, Disease, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Malingering, Medicalization, Humans, Medicine, Child, Genetics (clinical), media_common, 0303 health sciences, Newborn screening, Gaucher Disease, Glycogen Storage Disease Type II, business.industry, 030305 genetics & heredity, Infant, Newborn, food and beverages, medicine.disease, Lysosomal Storage Diseases, Feeling, 030220 oncology & carcinogenesis, embryonic structures, Fabry Disease, Age of onset, business, Psychosocial, Clinical psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fafd02caa23d77da4e6b09eccaba36fbTest
https://doi.org/10.1002/jgc4.1421Test -
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المؤلفون: Anja U. Bräuer, Maria Vittoria Cubellis, Georg Fuellen, Jan Lukas, Anne-Katrin Giese, Arndt Rolfs, Mathias Ernst, Giuseppina Andreotti, Stephan Struckmann, Andreas Hermann, Linda Rebecca Haake, Anne-Marie Knospe, Claudia Cozma, Valentina Citro, Susanne Seemann, Chiara Cimmaruta, Dirk Koczan
المساهمون: Seemann, S., Ernst, M., Cimmaruta, C., Struckmann, S., Cozma, C., Koczan, D., Knospe, A. -M., Haake, L. R., Citro, V., Brauer, A. U., Andreotti, G., Cubellis, M. V., Fuellen, G., Hermann, A., Giese, A. -K., Rolfs, A., Lukas, J.
المصدر: Biochemical journal (Online) (2020). doi:10.1042/BCJ20190513
info:cnr-pdr/source/autori:Susanne Seemann ; Mathias Ernst ; Chiara Cimmaruta ; Stephan Struckmann ; Claudia Cozma ; Dirk Koczan ; Anne-Marie Knospe ; Linda R Haake ; Valentina Citro ; Anja U Bräuer ; Giuseppina Andreotti ; Maria V Cubellis ; Georg Fuellen ; Andreas Hermann ; Anne-Katrin Giese ; Arndt Rolfs ; Jan Lukas/titolo:Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypesin Fabry disease/doi:10.1042%2FBCJ20190513/rivista:Biochemical journal (Online)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume
The biochemical journal / Reviews 477(2), 359-380 (2020). doi:10.1042/BCJ20190513
Biochemical Journalمصطلحات موضوعية: lysosomal enzyme, genetics [Proteasome Endopeptidase Complex], Endoplasmic Reticulum, Biochemistry, genetics [Lysosomes], Molecular Bases of Health & Disease, metabolism [Lysosomes], transcriptomics, Lysosomal Storage Disease, genetics [alpha-Galactosidase], 0302 clinical medicine, metabolism [Endoplasmic Reticulum], Sphingosine, Gene expression, protein misfolding, Proteostasi, Research Articles, 0303 health sciences, therapeutic use [1-Deoxynojirimycin], biology, Pharmacology & Toxicology, genetics [Lysosomal Storage Diseases], Lysosome, Cell biology, genetics [Proteostasis], Protein Transport, drug effects [Protein Transport], 030220 oncology & carcinogenesis, ddc:540, Fibroblast, Translational Science, metabolism [Sphingosine], metabolism [Fibroblasts], Human, metabolism [Biomarkers], medicine.drug, drug therapy [Fabry Disease], Proteasome Endopeptidase Complex, 1-Deoxynojirimycin, enzymology [Fabry Disease], drug therapy [Lysosomal Storage Diseases], genetics [Mutation, Missense], Mutation, Missense, analogs & derivatives [Sphingosine], migalastat, enzymology [Lysosomes], Context (language use), Gene Expression Regulation, Enzymologic, 03 medical and health sciences, medicine, Humans, globotriaosylsphingosine, metabolism [Proteasome Endopeptidase Complex], pathology [Lysosomal Storage Diseases], Molecular Biology, drug effects [Gene Expression Regulation, Enzymologic], 030304 developmental biology, drug effects [Fibroblasts], genetics [Fabry Disease], Alpha-galactosidase, enzymology [Lysosomal Storage Diseases], proteasome inhibitor, Endoplasmic reticulum, transcriptomic, Biomarker, analogs & derivatives [1-Deoxynojirimycin], Cell Biology, Fibroblasts, medicine.disease, Therapeutics & Molecular Medicine, Fabry disease, Lysosomal Storage Diseases, Metabolism, Proteostasis, Proteasome, alpha-Galactosidase, Proteasome inhibitor, biology.protein, Fabry Disease, Lysosomes, genetics [Endoplasmic Reticulum], pathology [Fabry Disease], Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfda54713078b2d84fa25ecc480bef0aTest
https://doi.org/10.1042/bcj20190513Test -
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المؤلفون: Yilmaz Yildiz, Hatice Serap Sivri, Ayça Burcu Kahraman, Ayşegül Tokatlı, Ali Dursun, İzzet Erdal, Halil Tuna Akar, Kısmet Çıkı
المصدر: Journal of Pediatric Endocrinology and Metabolism. 34:539-545
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Coronavirus disease 2019 (COVID-19), Dose, Cross-sectional study, Endocrinology, Diabetes and Metabolism, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Cost of Illness, Surveys and Questionnaires, Pandemic, Epidemiology, medicine, Humans, Enzyme Replacement Therapy, Young adult, Child, SARS-CoV-2, business.industry, COVID-19, Enzyme replacement therapy, Middle Aged, medicine.disease, Fabry disease, Lysosomal Storage Diseases, Cross-Sectional Studies, 030104 developmental biology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c22b7a1245eb644c4bba199de77e5f49Test
https://doi.org/10.1515/jpem-2021-0067Test -
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المؤلفون: Nato D. Vashakmadze, Natalia V. Zhurkova, Leyla S. Namazova-Baranova, Nina V. Fedorova, Marina A. Babaykina
المصدر: Voprosy Sovremennoj Pediatrii, Vol 20, Iss 1, Pp 72-80 (2021)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, idursulfase, Idursulfase, Mucopolysaccharidosis, Disease, Pediatrics, Gastroenterology, RJ1-570, 03 medical and health sciences, 0302 clinical medicine, children, Internal medicine, Cardiac valve, Medicine, Mucopolysaccharidosis type II, lysosomal storage diseases, Cognitive impairment, business.industry, Disease progression, mucopolysaccharidosis type ii, Enzyme replacement therapy, medicine.disease, non-neuropathic form, 030104 developmental biology, Pediatrics, Perinatology and Child Health, business, 030217 neurology & neurosurgery, enzyme replacement therapy, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fdd2459cb0701e18616d0b1f8eee966Test
https://doi.org/10.15690/vsp.v20i1.2238Test -
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المؤلفون: Polina V. Ochirova, Sergey O. Ryabykh, Tatyana V. Ryabykh
المصدر: Pediatričeskaâ Farmakologiâ, Vol 18, Iss 1, Pp 23-30 (2021)
مصطلحات موضوعية: 0301 basic medicine, Nosology, medicine.medical_specialty, Bone pathology, RM1-950, 030105 genetics & heredity, orthesis, 03 medical and health sciences, 0302 clinical medicine, medicine, craniovertebral junction, Surgical treatment, lysosomal storage diseases, Neurological deficit, clinical case, business.industry, occipitospondylodesis, stenosis, MUCOPOLYSACCHARIDOSIS TYPE IH, mucopolysaccharidosis type ih, age-associated and professional continuity, medicine.disease, Surgery, Stenosis, instability, kyphotic deformation, Orthopedic surgery, multilevel spinal pathology, Clinical case, Therapeutics. Pharmacology, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6372dc59198dd2690c96a8d117e91392Test
https://www.pedpharma.ru/jour/article/view/1944Test -
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المؤلفون: Andrij Holian, Rebekah L Kendall
المصدر: Inhalation Toxicology. 33:41-54
مصطلحات موضوعية: Membrane permeability, Inflammasomes, Health, Toxicology and Mutagenesis, Cellular homeostasis, 010501 environmental sciences, Toxicology, 01 natural sciences, Ion Channels, Exocytosis, Autoimmune Diseases, 03 medical and health sciences, 0302 clinical medicine, Lysosome, medicine, Humans, Loss function, Ion channel, 0105 earth and related environmental sciences, Chemistry, Autophagy, Neurodegenerative Diseases, Transporter, Cell biology, Lysosomal Storage Diseases, medicine.anatomical_structure, 030228 respiratory system, Lysosomes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73a2e1a9d59c677a44557d3dd8d258b9Test
https://doi.org/10.1080/08958378.2021.1876188Test -
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المؤلفون: Suresh Vijay, Anais Brassier, Arunabha Ghosh, Simona Fecarotta, Florian Abel, Sachin Marulkar, Simon A. Jones
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: 0301 basic medicine, Research, lcsh:R, Infant, Correction, lcsh:Medicine, General Medicine, Growth, Sterol Esterase, 030204 cardiovascular system & hematology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Child, Preschool, Lysosomal storage diseases, Humans, Enzyme Replacement Therapy, Pharmacology (medical), Genetics (clinical), Transaminases, Dyslipidemias, Wolman disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f980d51d9428acb6e654db12c617336Test
https://doaj.org/article/6bcf5e77cf6c40ca9598c34a2bcd98d2Test -
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المؤلفون: Vishal Swaminathan, Prashant Chandrasekaran, Sowmya Jayachandran, Kiran Musunuru, David B. Frank, Apeksha Dave, Tiankun Wang, Brandon White, Heather A. Hartman, Sourav Bose, Rajan Jain, Haiying Li, Felix De Bie, Meghana V. Kashyap, Philip W. Zoltick, William H. Peranteau, Pallavi Menon, Kshitiz Singh, Shiva S. Teerdhala
المساهمون: Faculty of Medicine and Pharmacy, Basic (bio-) Medical Sciences
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Nature Communicationsمصطلحات موضوعية: CRISPR-Cas9 genome editing, 0301 basic medicine, Pathology, BLOOD, General Physics and Astronomy, Disease, medicine.disease_cause, TOLERANCE INDUCTION, 0302 clinical medicine, ENZYME-REPLACEMENT THERAPY, Lysosomal storage disease, Medicine, Myocytes, Cardiac, Hurler syndrome, GENE-EXPRESSION, Mutation, Multidisciplinary, Molecular medicine, HURLERS SYNDROME, Myocytes, Cardiac/metabolism, Multidisciplinary Sciences, In utero, Science & Technology - Other Topics, BONE, Lysosomal Storage Diseases/genetics, STEM-CELLS, medicine.medical_specialty, Mutation/genetics, Science, Cardiology, Article, General Biochemistry, Genetics and Molecular Biology, Virus, 03 medical and health sciences, Mucopolysaccharidosis type I, Animals, Humans, PRENATAL-DIAGNOSIS, Science & Technology, business.industry, Mechanism (biology), Hepatocytes/metabolism, General Chemistry, medicine.disease, NERVOUS-SYSTEM, Lysosomal Storage Diseases, Disease Models, Animal, 030104 developmental biology, Hepatocytes, MUCOPOLYSACCHARIDOSIS TYPE-I, business, 030217 neurology & neurosurgery
وصف الملف: Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e6f3e77c2cfd338eb9e98b94b10a46aTest
https://doi.org/10.1038/s41467-021-24443-8Test