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1Academic Journal
المؤلفون: P. K. Tandon, Emil D. Kakkis
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-17 (2021)
مصطلحات موضوعية: Multi-domain responder index, MDRI, Mucopolysaccharidosis, MPS, Laronidase, Vestronidase alfa, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2
المؤلفون: Emil D. Kakkis
المصدر: Molecular genetics and metabolism. 137(1-2)
مصطلحات موضوعية: Endocrinology, Drug Development, United States Food and Drug Administration, Endocrinology, Diabetes and Metabolism, Genetics, Humans, Molecular Biology, Biochemistry, History, 21st Century, United States
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3
المؤلفون: Mike Machado, Rosario Mosca, Belle Guzman, Elida Gomero, Michel C. Vellard, Vish Koppaka, Ida Annunziata, Alessandra d'Azzo, Jaclyn Cadaoas, Gabrielle Boyle, Kartika Jayashankar, Huimin Hu, Sean Cullen, Emil D. Kakkis, Diantha van de Vlekkert
المصدر: Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss, Pp 191-203 (2021)مصطلحات موضوعية: 0301 basic medicine, Systemic disease, lcsh:QH426-470, lysosomal NEU1, Cathepsin A, law.invention, 03 medical and health sciences, recombinant Protective protein/cathepsin A, 0302 clinical medicine, lysosomes, law, Genetics, Lysosomal storage disease, Medicine, lcsh:QH573-671, Molecular Biology, chemistry.chemical_classification, lcsh:Cytology, business.industry, lysosomal glycoproteinosis, Enzyme replacement therapy, medicine.disease, Null allele, galactosialidosis, lcsh:Genetics, 030104 developmental biology, Enzyme, chemistry, lysosomal storage disease, 030220 oncology & carcinogenesis, Recombinant DNA, Cancer research, Molecular Medicine, β-GAL, Original Article, ERT, business, Galactosialidosis
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4
المؤلفون: Tony Koutsoukos, Deborah Marsden, Karen Tylee, Simon Jones, Emil D. Kakkis, Sarah Phillippo, Jennifer Sniadecki
المصدر: Molecular Genetics and Metabolism. 130:255-261
مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Cellular pathology, N-Acetylgalactosamine-4-Sulfatase, Mucopolysaccharidosis I, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis, Urinary system, 030105 genetics & heredity, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Genetics, Clinical endpoint, medicine, Humans, Enzyme Replacement Therapy, Child, Molecular Biology, Glycosaminoglycans, Mucopolysaccharidosis II, Retrospective Studies, Mucopolysaccharidosis VI, business.industry, Infant, Newborn, Infant, Retrospective cohort study, Enzyme replacement therapy, Prognosis, medicine.disease, Clinical trial, Child, Preschool, Biomarker (medicine), Female, business, Biomarkers, 030217 neurology & neurosurgery, Follow-Up Studies
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5
المؤلفون: Emil D. Kakkis, Deborah Marsden
المصدر: Molecular Genetics and Metabolism. 130:7-15
مصطلحات موضوعية: 0301 basic medicine, Oncology, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Urinary system, 030105 genetics & heredity, Biochemistry, Glycosaminoglycan, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Genetics, medicine, Animals, Humans, Enzyme Replacement Therapy, skin and connective tissue diseases, Molecular Biology, Glycosaminoglycans, Predictive biomarker, business.industry, nutritional and metabolic diseases, Enzyme replacement therapy, Mucopolysaccharidoses, Treatment efficacy, Treatment Outcome, Potential biomarkers, Biomarker (medicine), business, Biomarkers, 030217 neurology & neurosurgery
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المؤلفون: Emil D. Kakkis, Antonio Nino Ramirez, Hanns Lochmüller
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-3 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: 0301 basic medicine, Registry, Knowledge management, lcsh:Medicine, Collaborative model, Disease, 030105 genetics & heredity, Orphan drug, GNE myopathy disease monitoring program, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Humans, Orphan drugs, Pharmacology (medical), Registries, DMP, Letter to the Editor, health care economics and organizations, Genetics (clinical), Information Dissemination, business.industry, Corporate governance, lcsh:R, GNEM-DMP, General Medicine, GNE MYOPATHY, Disease monitoring, GNE myopathy, 3. Good health, Distal Myopathies, Data sharing, Drug development, Disease monitoring program, business, 030217 neurology & neurosurgery
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المؤلفون: Emil D. Kakkis, Ivailo Tournev, Camille L Bedrosian, Mark A. Tarnopolsky, Anthony Behin, Alison Skrinar, Hanns Lochmüller, Tahseen Mozaffar, Tony Koutsoukos, J. Shah, Oksana Pogoryelova, Rita Horvath
المساهمون: Apollo - University of Cambridge Repository, Barcelona Institute of Science and Technology (BIST), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Софийски университет = Sofia University, McMaster University [Hamilton, Ontario], University of Cambridge [UK] (CAM), Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), University of Sofia
المصدر: Journal of neuromuscular diseases, vol 8, iss 2
Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, 2021, 8 (2), pp.225-234. ⟨10.3233/jnd-200565⟩
Journal of Neuromuscular Diseases, IOS Press, 2021, 8 (2), pp.225-234. ⟨10.3233/jnd-200565⟩مصطلحات موضوعية: Research Report, Adult, Male, 0301 basic medicine, medicine.medical_specialty, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Muscle Strength, Prospective Studies, Bulgaria, Muscle, Skeletal, Myopathy, muscle weakness, Muscle Weakness, Muscle biopsy, medicine.diagnostic_test, business.industry, Muscle weakness, GNE MYOPATHY, Middle Aged, Disease monitoring, 3. Good health, Distal Myopathies, muscular diseases, 030104 developmental biology, Lower Extremity, Neurology, Non interventional, Proximal Muscle, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Observational study, Myopathies, Neurology (clinical), medicine.symptom, N-acetylneuraminic acid, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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8
المؤلفون: Elaine Murphy, Barbara K. Burton, Amarilis Sanchez-Valle, Jerry Vockley, John A. Phillips, Nicola Longo, Chao-Yin Chen, Emil D. Kakkis, Jason Cataldo, Gerard T. Berry, Wencong Chen, Alexandra Bowden, Stephanie Grunewald, Deborah Marsden, Pranoot Tanpaiboon
المصدر: Journal of Inherited Metabolic Disease. 42:169-177
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Cardiomyopathy, Hypoglycemia, Article, Lipid Metabolism, Inborn Errors, Rhabdomyolysis, law.invention, Young Adult, 03 medical and health sciences, 0302 clinical medicine, law, Internal medicine, Genetics, medicine, Humans, Child, Adverse effect, Triglycerides, Genetics (clinical), Retrospective Studies, business.industry, Fatty Acids, Infant, Newborn, Infant, Retrospective cohort study, Middle Aged, medicine.disease, Intensive care unit, Diarrhea, 030104 developmental biology, Child, Preschool, Vomiting, Female, medicine.symptom, Cardiomyopathies, business, Oxidation-Reduction, 030217 neurology & neurosurgery
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9
المؤلفون: Jaclyn Cadaoas, Rosario Mosca, Alessandra d'Azzo, Camilo Toro, Cynthia J. Tifft, Emil D. Kakkis, Vish Koppaka, Diantha van de Vlekkert, Simona Allievi, Leigh E. Fremuth, Ida Annunziata, Yvan Campos, Cinzia Gellera, Laura Canafoglia, Gepke Visser
المصدر: Journal of Clinical Medicine, Vol 9, Iss 3, p 695 (2020)
Journal of Clinical Medicine; Volume 9; Issue 3; Pages: 695
Journal of Clinical Medicineمصطلحات موضوعية: Mutant, lcsh:Medicine, Pharmacology, Sialidase, Cathepsin A, Article, law.invention, sialidosis type i, sialidosis type I, NEU1, PPCA, dietary and pharmacological compounds, therapy, 03 medical and health sciences, 0302 clinical medicine, law, Lysosomal storage disease, Medicine, neu1, Sialidosis, 030304 developmental biology, 0303 health sciences, ppca, biology, business.industry, lcsh:R, General Medicine, medicine.disease, biology.protein, Recombinant DNA, business, Neuraminidase, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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10
المؤلفون: Emil D. Kakkis, Max G. Bronstein
المصدر: Oxford Textbook of Medicine
مصطلحات موضوعية: medicine.medical_specialty, business.industry, medicine, Intensive care medicine, business
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11
المؤلفون: Jaclyn Cadaoas, Steven Jungles, Gabrielle Boyle, Agnieszka Jurecka, Emil D. Kakkis, William S. Sly, Sean Cullen, Michel C. Vellard, Jeffrey H. Grubb
المصدر: Molecular genetics and metabolism. 130(1)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis VII, Mice, Transgenic, CHO Cells, 030105 genetics & heredity, Pharmacology, Biochemistry, Rats, Sprague-Dawley, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Endocrinology, Cricetulus, Pharmacokinetics, Genetics, Lysosomal storage disease, medicine, Animals, Humans, Enzyme Replacement Therapy, Tissue Distribution, Child, Molecular Biology, Glucuronidase, Glycosaminoglycans, chemistry.chemical_classification, Chemistry, Enzyme replacement therapy, Fibroblasts, medicine.disease, Recombinant Proteins, Sialic acid, Rats, Enzyme, Toxicity, Administration, Intravenous, Female, Lysosomes, 030217 neurology & neurosurgery
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المؤلفون: Tony Koutsoukos, J. Shah, Alexander Lai, Catherine Woods, Emil D. Kakkis, Hank Mansbach, Alison Skrinar, Yoseph Caraco, Mark A. Tarnopolsky, Heather Lau, Ivailo Tournev, Anthony Behin, Massimiliano Mirabella, Oksana Pogoryelova, Tahseen Mozaffar, Hanns Lochmüller
المصدر: Neurology
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Null Hypothesis, Placebo, Muscle Fibers, law.invention, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Randomized controlled trial, Double-Blind Method, law, Internal medicine, Clinical endpoint, Medicine, Humans, 030212 general & internal medicine, Muscle Strength, Young adult, Adverse effect, Muscle, Skeletal, GNE myopathy, N-Acetylneuraminic Acid, Muscle Fibers, Skeletal, business.industry, Skeletal, Middle Aged, Confidence interval, 3. Good health, Sialic acid, Clinical trial, Distal Myopathies, Settore MED/26 - NEUROLOGIA, Treatment Outcome, chemistry, Delayed-Action Preparations, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
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المؤلفون: Annemieke Boot, Agnès Linglart, Emil D. Kakkis, Michael P. Whyte, Erik A. Imel, Wolfgang Högler, Alison Skrinar, Javier San Martin, Thomas O. Carpenter, Chao-Yin Chen, Meng Mao, Raja Padidela, Anthony A. Portale, William van’t Hoff
المساهمون: Faculteit Medische Wetenschappen/UMCG
المصدر: New England Journal of Medicine, 378(21), 1987-1998. MASSACHUSETTS MEDICAL SOC
مصطلحات موضوعية: Male, 0301 basic medicine, Fibroblast growth factor 23, SYMPTOMS, Knee Joint, urologic and male genital diseases, Severity of Illness Index, 0302 clinical medicine, ADOLESCENTS, Medicine, CALCITRIOL, Child, Osteomalacia, Antibodies, Monoclonal, Genetic Diseases, X-Linked, Phosphorus, General Medicine, RICKETS, X-linked hypophosphatemia, female genital diseases and pregnancy complications, PREVALENCE, Kidney Tubules, Child, Preschool, GROWTH, Female, Familial Hypophosphatemic Rickets, Hypophosphatemia, medicine.drug, musculoskeletal diseases, medicine.medical_specialty, Calcitriol, 030209 endocrinology & metabolism, Rickets, Antibodies, Monoclonal, Humanized, 03 medical and health sciences, Alkaline phosphatase blood, Internal medicine, Humans, Pain Management, business.industry, nutritional and metabolic diseases, ADULTS, KRN23, Alkaline Phosphatase, medicine.disease, Fibroblast Growth Factors, Radiography, Fibroblast Growth Factor-23, stomatognathic diseases, MICE, 030104 developmental biology, Endocrinology, Multicenter study, business
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المؤلفون: Mislen Bauer, Paul Harmatz, Raymond Y. Wang, Emil D. Kakkis, Chester B. Whitley, Wenjie Song, Christine Haller
المصدر: Molecular genetics and metabolism. 123(4)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Vital capacity, Visual acuity, Adolescent, Endocrinology, Diabetes and Metabolism, Sly syndrome, Mucopolysaccharidosis VII, Disease, Biochemistry, 03 medical and health sciences, Young Adult, Endocrinology, Quality of life, Internal medicine, Genetics, Clinical endpoint, medicine, Humans, Child, Molecular Biology, Glucuronidase, business.industry, Enzyme replacement therapy, medicine.disease, Prognosis, Recombinant Proteins, 030104 developmental biology, Female, medicine.symptom, business, Follow-Up Studies
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15
المؤلفون: Michel C. Vellard, Jaclyn Cadaoas, Gabrielle Morris, Yiumo Michael Chan, Emil D. Kakkis, Alison Skrinar, Paul P. Lee, Steve Jungles
المصدر: PLoS ONE
PLoS ONE, Vol 12, Iss 3, p e0173261 (2017)مصطلحات موضوعية: 0301 basic medicine, Male, Biopsy, lcsh:Medicine, Muscle Proteins, Biochemistry, Pathogenesis, chemistry.chemical_compound, Mice, 0302 clinical medicine, Tandem Mass Spectrometry, Medicine and Health Sciences, lcsh:Science, Musculoskeletal System, Multidisciplinary, medicine.diagnostic_test, Organic Compounds, Muscles, Gastrocnemius Muscles, Animal Models, Muscle Analysis, Middle Aged, Chemistry, medicine.anatomical_structure, Bioassays and Physiological Analysis, Experimental Organism Systems, Physical Sciences, Female, medicine.symptom, Anatomy, Research Article, Muscle tissue, Adult, medicine.medical_specialty, Adolescent, Muscle Tissue, Mouse Models, Surgical and Invasive Medical Procedures, Creatine, Research and Analysis Methods, 03 medical and health sciences, Young Adult, Model Organisms, Internal medicine, medicine, Animals, Humans, Myopathy, Muscle, Skeletal, Aged, Hereditary inclusion body myopathy, business.industry, lcsh:R, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, Proteins, medicine.disease, N-Acetylneuraminic Acid, Sialic acid, Distal Myopathies, Disease Models, Animal, 030104 developmental biology, Endocrinology, Biological Tissue, chemistry, Skeletal Muscles, lcsh:Q, business, N-Acetylneuraminic acid, 030217 neurology & neurosurgery, Biomarkers, Chromatography, Liquid
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المؤلفون: Emil D. Kakkis, A. Bowden, Gerard T. Berry, Lin Zhang, Jason Cataldo, John A. Phillips, Amarilis Sanchez-Valle, J. Mayhew, Nicola Longo, R. Humphrey, Jerry Vockley, Barbara K. Burton, Stephanie Grunewald, Deborah Marsden, Elaine Murphy, Pranoot Tanpaiboon
المصدر: Molecular genetics and metabolism. 120(4)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Heart disease, Adolescent, Endocrinology, Diabetes and Metabolism, Walk Test, Sudden death, Biochemistry, Lipid Metabolism, Inborn Errors, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Genetics, Humans, Prospective Studies, Child, Beta oxidation, Molecular Biology, Triglycerides, chemistry.chemical_classification, Newborn screening, business.industry, Fatty Acids, Infant, Newborn, Fatty acid, Infant, Middle Aged, medicine.disease, Triheptanoin, Surgery, Regimen, 030104 developmental biology, Treatment Outcome, chemistry, Child, Preschool, Physical Endurance, Quality of Life, Female, Energy source, business, 030217 neurology & neurosurgery
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المؤلفون: Zohar Argov, Alan Pestronk, Ruhi Ahmed, Julia Martinisi, Yoseph Caraco, Emil D. Kakkis, Alison Skrinar, Heather Lau, Tony Koutsoukos, Perry B. Shieh
المصدر: Journal of Neuromuscular Diseases
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Research Report, medicine.medical_specialty, Randomization, Adolescent, distal myopathy with rimmed vacuoles, Placebo, Gastroenterology, law.invention, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Randomized controlled trial, Double-Blind Method, law, Internal medicine, Outcome Assessment, Health Care, medicine, Humans, myopathy therapy, Lead (electronics), Adverse effect, Myopathy, Hereditary inclusion body myopathy, business.industry, GNE MYOPATHY, Middle Aged, medicine.disease, N-Acetylneuraminic Acid, Sialic acid, Surgery, Distal Myopathies, hereditary inclusion body myopathy, GNE Myopathy, 030104 developmental biology, Neurology, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
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المؤلفون: Rajeev Ayyagari, Emil D. Kakkis, James Signorovitch
المصدر: Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research. 17(7)
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Health Policy, Public Health, Environmental and Occupational Health, Alternative medicine, Physical therapy, Medicine, business
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19
المؤلفون: Max G. Bronstein, Sara Kowalcyk, Emil D. Kakkis
المصدر: Nature biotechnology. 34(4)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, United States Food and Drug Administration, Biomedical Engineering, MEDLINE, Bioengineering, 030105 genetics & heredity, Pharmacology, Applied Microbiology and Biotechnology, United States, 03 medical and health sciences, Rare Diseases, medicine, Molecular Medicine, Humans, Accelerated approval, Intensive care medicine, business, Drug Approval, Biomarkers, Biotechnology, Rare disease
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المؤلفون: Zeshan Khokher, Emil D. Kakkis, Babak Darvish, Marvin Pietruszka, Rosangela Carbajo, Pedram Sinai, Saghi Esfandiarifard, Daniel Darvish, Daniel No, Yadira Valles-Ayoub
المصدر: Genetic Testing and Molecular Biomarkers. 16:313-317
مصطلحات موضوعية: Adult, medicine.medical_specialty, Blotting, Western, Biology, Myositis, Inclusion Body, Mice, Young Adult, chemistry.chemical_compound, Atrophy, Western blot, Internal medicine, medicine, Animals, Humans, Neural Cell Adhesion Molecules, Genetics (clinical), chemistry.chemical_classification, Muscle biopsy, Hereditary inclusion body myopathy, medicine.diagnostic_test, Kinase, General Medicine, Middle Aged, medicine.disease, N-Acetylneuraminic Acid, Sialic acid, Disease Models, Animal, Endocrinology, nervous system, chemistry, Mutation, Immunology, Neural cell adhesion molecule, Carbohydrate Epimerases, Glycoprotein
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