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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: 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: 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 -
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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: Cristiano Rizzo, Sara Boenzi, Carlo Dionisi-Vici, Giorgia Olivieri, Federica Deodato, Michela Semeraro, Giulio Catesini, Incilay Lay, Turgay Coşkun, Elisa Sacchetti
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Fucosidosis, medicine.medical_specialty, Aspartylglucosaminuria, Oligosaccharides, lcsh:Medicine, Urine, Gangliosidosis, Gastroenterology, Tandem Mass Spectrometry, Internal medicine, medicine, Autophagy, Humans, Pharmacology (medical), Danon disease, Sialidosis, Chromatography, High Pressure Liquid, Genetics (clinical), Glycogen Storage Disease Type II, business.industry, Mucolipidosis, Research, lcsh:R, Pompe disease, Storage disorders, General Medicine, medicine.disease, Vici syndrome, Lysosomal Storage Diseases, Biomarker (medicine), business, Yunis-varon syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ada458d5521c68fcc0aaf3dde5b7adbTest
https://doaj.org/article/40d6cbf7fbf54c78a9591e365d719277Test