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1
المؤلفون: Valeria Graceffa
المصدر: Current Gene Therapy. 22:191-213
مصطلحات موضوعية: business.industry, Genetic enhancement, Cell- and Tissue-Based Therapy, Gene Transfer Techniques, Genetic Therapy, Transfection, Gene delivery, medicine.disease, Bioinformatics, Immune tolerance, Lysosomal Storage Diseases, Transplantation, Immune system, Graft-versus-host disease, Drug Discovery, Genetics, Humans, Molecular Medicine, Medicine, Stem cell, Lysosomes, business, Molecular Biology, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54efbf3b46034f44317362df3035c90fTest
https://doi.org/10.2174/1566523221666210728141924Test -
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المؤلفون: Malte Lenders, Eva Brand
المصدر: Drugs
مصطلحات موضوعية: Oncology, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Cardiomyopathy, Globotriaosylceramide, Review Article, chemistry.chemical_compound, Pharmacotherapy, Risk Factors, Internal medicine, medicine, Humans, Pharmacology (medical), Clinical significance, Enzyme Replacement Therapy, chemistry.chemical_classification, biology, business.industry, Trihexosylceramides, Cardiac arrhythmia, nutritional and metabolic diseases, medicine.disease, Fabry disease, Antibodies, Neutralizing, Recombinant Proteins, Injection Site Reaction, Isoenzymes, Lysosomal Storage Diseases, Enzyme, chemistry, alpha-Galactosidase, Antibody Formation, biology.protein, Fabry Disease, Antibody, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c352c03593c70b37556dbc3d2076c00Test
http://europepmc.org/articles/PMC8602155Test -
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المؤلفون: Daniel Erskine, David J. Koss, Johannes Attems, Viktor I. Korolchuk, Ian G. McKeith, Tiago F. Outeiro
المصدر: Acta Neuropathologica
Acta neuropathologica 141(4), 511-526 (2021). doi:10.1007/s00401-021-02266-7مصطلحات موضوعية: Mitochondrial Diseases, Context (language use), Disease, Review, Biology, Mitochondrion, pathology [Mitochondria], Pathology and Forensic Medicine, metabolism [Lysosomes], Alpha-synuclein, Cellular and Molecular Neuroscience, chemistry.chemical_compound, medicine, Autophagy, Dementia, Humans, ddc:610, metabolism [alpha-Synuclein], pathology [Lysosomal Storage Diseases], Synucleinopathies, pathology [Lewy Bodies], Lewy body, Catabolism, pathology [Hemochromatosis], metabolism [Lewy Bodies], metabolism [Mitochondria], medicine.disease, Lipid Metabolism, Cell biology, Mitochondria, Lysosomal Storage Diseases, metabolism [Lysosomal Storage Diseases], pathology [Mitochondrial Diseases], Lipid metabolism, chemistry, metabolism [Mitochondrial Diseases], Lewy Bodies, Neurology (clinical), Hemochromatosis, physiology [Lipid Metabolism], Lysosomes, metabolism [Hemochromatosis], pathology [Lysosomes]
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43306bec4e1cde40566d68af6e3b9796Test
http://europepmc.org/articles/PMC7952289Test -
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المؤلفون: Papai Roy, Ratna Dua Puri, Divya C. Thomas, Jyotsna Verma, I. C. Verma
المصدر: Clinica Chimica Acta. 521:177-190
مصطلحات موضوعية: 2019-20 coronavirus outbreak, medicine.medical_specialty, Clinical Biochemistry, Lysosomal storage disorders, Biochemistry, Gastroenterology, Diagnostic aid, Lyso, Tandem Mass Spectrometry, Internal medicine, Humans, Medicine, In patient, Sphingolipids, business.industry, Biochemistry (medical), Indian population, General Medicine, respiratory system, medicine.disease, Fabry disease, Molecular analysis, Lysosomal Storage Diseases, Fabry Disease, lipids (amino acids, peptides, and proteins), Lysosomes, business, Biomarkers, Chromatography, Liquid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67008aedad3a2003fadc07d2e26b0548Test
https://doi.org/10.1016/j.cca.2021.07.017Test -
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المؤلفون: Elizabeth Critchlow, Alexis C. Gimovsky, Huda B. Al-Kouatly, Neel S. Iyer, Carlos Ferreira
المصدر: Clinical Genetics. 100:493-503
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Hydrops Fetalis, Mucopolysaccharidosis, Clinical Decision-Making, Prenatal diagnosis, Disease, Pregnancy, Hydrops fetalis, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, Sialidosis, Genetics (clinical), business.industry, Incidence (epidemiology), Disease Management, medicine.disease, Lysosomal Storage Diseases, Molecular Diagnostic Techniques, Etiology, Female, Disease Susceptibility, business, Galactosialidosis, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8ba31bce54e0b0aa35f1546232e6414Test
https://doi.org/10.1111/cge.14005Test -
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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 -
9
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