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1دورية أكاديمية
المؤلفون: Babi R. R. Nallamilli, Yinghong Pan, Lisa Sniderman King, Lakshmanan Jagannathan, Vinish Ramachander, Ann Lucas, Jan Markind, Raffaella Colzani, Madhuri Hegde
المصدر: Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2092-2104 (2023)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
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2دورية أكاديمية
المؤلفون: Amanda Wilson, Alexandra Chiorean, Mario Aguiar, Davorka Sekulic, Patrick Pavlick, Neha Shah, Lisa Sniderman King, Marie Génin, Mélissa Rollot, Margot Blanchon, Simon Gosset, Martin Montmerle, Cliona Molony, Alexandra Dumitriu
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
مصطلحات موضوعية: Electronic health records, Gaucher disease, Machine learning, Patient identification, Real-world evidence, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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3دورية أكاديمية
المؤلفون: Lisa Sniderman King, Mario Aguiar, Alexandra Chiorean, Alexandra Dumitriu, Judy Hull, Pramod Mistry, François Modave, Martin Montmerle, Patrick Pavlick, Neha Shah, Neal Weinreb, Amanda Wilson
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100338- (2023)
وصف الملف: electronic resource
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المؤلفون: Lisa Sniderman King, Yinghong Pan, Babi Ramesh Reddy Nallamilli, Madhuri Hegde, Lakshmanan Jagannathan, Vinish Ramachander, Ann Lucas, Jan Markind, Raffaella Colzani
المصدر: Molecular Genetics and Metabolism. 139:107565
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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المؤلفون: Lisa Sniderman King, Mario Aguiar, Alexandra Chiorean, Alexandra Dumitriu, Pramod Mistry, François Modave, Martin Montmerle, Patrick Pavlick, Neal Weinreb, Amanda Wilson
المصدر: Molecular Genetics and Metabolism. 135:S114
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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المؤلفون: Marshall L. Summar, William J. Rhead, Lisa Sniderman King, Brendan Lee, Wendy E. Smith, Rani H. Singh
المصدر: Critical Care Clinics. 21:S27-S35
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Physical activity, Clinical nutrition, Critical Care and Intensive Care Medicine, Free amino, Internal medicine, medicine, Humans, Hyperammonemia, Urea, Child, Intensive care medicine, Amino Acid Metabolism, Inborn Errors, Specific enzyme, Citrullinemia, business.industry, Infant, Newborn, General Medicine, Protein intake, Ornithine Carbamoyltransferase Deficiency Disease, Endocrinology, Chronic disease, Child, Preschool, Urea cycle, Acute Disease, Chronic Disease, Practice Guidelines as Topic, Female, Nutrition management, business
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المؤلفون: Rani H. Singh, Marshall L. Summar, Brendan Lee, Wendy E. Smith, Lisa Sniderman King, William J. Rhead
المصدر: Critical Care Clinics. 21:S37-S44
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Psychotherapist, Urea cycle disorder, Carbamoyl-Phosphate Synthase I Deficiency Disease, Process (engineering), Genetic counseling, DNA Mutational Analysis, Inheritance Patterns, Genetic Counseling, Critical Care and Intensive Care Medicine, Pregnancy, Prenatal Diagnosis, medicine, Humans, Urea, Amino acid metabolism, Psychiatry, Amino Acid Metabolism, Inborn Errors, business.industry, Extramural, Chromosome Mapping, General Medicine, medicine.disease, Ornithine Carbamoyltransferase Deficiency Disease, Urea cycle, Female, business, Urea metabolism
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المؤلفون: Lisa Sniderman King, William J. Rhead, Wendy E. Smith, Sheila Dawling, Brendan Lee, Brian W. Christman, Frederick E. Barr, Rani H. Singh, Marshall L. Summar
المصدر: Critical Care Clinics. 21:S1-S8
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Carbamoyl-Phosphate Synthase I Deficiency Disease, Critical Illness, Critical Care and Intensive Care Medicine, Environmental stress, Care setting, Physical trauma, Acute onset, Internal medicine, Humans, Hyperammonemia, Urea, Medicine, Age of Onset, business.industry, Brain Diseases, Metabolic, Inborn, General Medicine, Middle Aged, Precipitating Factors, medicine.disease, Ornithine Carbamoyltransferase Deficiency Disease, Endocrinology, Urea cycle, Female, Emergencies, business
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المؤلفون: Rani H. Singh, Lisa Sniderman King, Marshall L. Summar, Priya S. Kishnani, William J. Rhead, Wendy E. Smith, Michael C. Smith, Brendan Lee
المصدر: Critical care clinics. 21
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Fulminant, Period (gene), Argininosuccinic Aciduria, Signs and symptoms, Critical Care and Intensive Care Medicine, Internal medicine, medicine, Humans, Hyperammonemia, Urea, Decompensation, Age of Onset, Amino Acid Metabolism, Inborn Errors, business.industry, Infant, General Medicine, medicine.disease, Ornithine Carbamoyltransferase Deficiency Disease, Endocrinology, Argininosuccinic aciduria, Urea cycle, Child, Preschool, Female, Presentation (obstetrics), Age of onset, business