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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: Marchetti, Marialaura, Faggiano, Serena, Mozzarelli, Andrea
المصدر: Current medicinal chemistry 29 (2022): 489–525. doi:10.2174/0929867328666210526144654
info:cnr-pdr/source/autori:Marchetti, Marialaura and Faggiano, Serena and Mozzarelli, Andrea/titolo:Enzyme Replacement Therapy for Genetic Disorders Associated with Enzyme Deficiency/doi:10.2174%2F0929867328666210526144654/rivista:Current medicinal chemistry/anno:2022/pagina_da:489/pagina_a:525/intervallo_pagine:489–525/volume:29مصطلحات موضوعية: HUMAN BETA-GLUCURONIDASE, medicine.medical_treatment, Mannose 6-phosphate, cell internalization, Bioinformatics, recombinant proteins, metabolic diseases, Biochemistry, mannose 6-phosphate, lysosomal storage disorders, chemistry.chemical_compound, genetic disease, Lysosome, Drug Discovery, medicine, TYPE-1 GAUCHER-DISEASE, Animals, Humans, CRISPR, biologics, Enzyme Replacement Therapy, Enzyme deficiency, Gene, Pharmacology, chemistry.chemical_classification, TUMOR-LYSIS-SYNDROME, LYSOSOMAL ALPHA-MANNOSIDASE, Cas9, business.industry, Organic Chemistry, Enzyme replacement therapy, Stem-cell therapy, BONE-MARROW-TRANSPLANTATION, Lysosomal Storage Diseases, MUCOPOLYSACCHARIDOSIS TYPE-II, medicine.anatomical_structure, Enzyme, chemistry, Blood-Brain Barrier, ADENOSINE-DEAMINASE DEFICIENCY, PHENYLALANINE AMMONIA-LYASE, Molecular Medicine, ONSET METACHROMATIC LEUKODYSTROPHY, LESCH-NYHAN-DISEASE, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4ddd2b9510c1cf7b8c41d8201bdcfb0Test
https://doi.org/10.2174/0929867328666210526144654Test -
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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: Francis X. McCormack, Christopher Radchenko, Ruchira Sengupta, Jason C. Woods, Muhammad A. Zafar, Alister J. Bates, Ralph J. Panos
المصدر: Chest. 160:e333-e337
مصطلحات موضوعية: Adult, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Walk Test, Positive expiratory pressure, Critical Care and Intensive Care Medicine, Quality of life, Internal medicine, Bronchoscopy, Pressure, medicine, Humans, Oximetry, Respiratory system, Collapse (medical), Continuous Positive Airway Pressure, business.industry, Minimal clinically important difference, Equipment Design, respiratory system, Magnetic Resonance Imaging, Bronchiectasis, respiratory tract diseases, Lysosomal Storage Diseases, Trachea, Dyspnea, Equipment and Supplies, Pulmonary Emphysema, Walk test, Oxyhemoglobins, Printing, Three-Dimensional, Quality of Life, Respiratory Mechanics, Room air distribution, Cardiology, Female, medicine.symptom, Cardiology and Cardiovascular Medicine, Airway, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0342cce0c78f97d57c62567a4d540a7eTest
https://doi.org/10.1016/j.chest.2021.04.059Test -
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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: 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: B. A. Kobrinskiy, N. A. Blagosklonov, N. S. Demikova
المصدر: Rossijskij Vestnik Perinatologii i Pediatrii, Vol 66, Iss 2, Pp 85-91 (2021)
مصطلحات موضوعية: medicine.medical_specialty, Modality (human–computer interaction), business.industry, Certainty factor, pre-laboratory diagnostics, Computer support, sign modality coefficient, Diagnostic system, mental retardation, mucopolysaccharidoses, Pediatrics, computer-aided design, RJ1-570, Age groups, children, Pediatrics, Perinatology and Child Health, medicine, expert diagnostic system, Medical physics, Control sample, certainty factor, business, lysosomal storage diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2e98a8a161a71457c738f0efad4f59dTest
https://www.ped-perinatology.ru/jour/article/view/1378Test