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1Academic Journal
المؤلفون: Charlie Fairhurst, Norberto Guelbert, Renée Shediac, Szilard Kiss, Lenora Lehwald, Ruth Williams, Martin Blohm, Andrea West, Jessica L. Cohen-Pfeffer, Angela Schulz, John A. Lawson, Meral Topçu, Annamaria Kofler, Margie Frazier, Svetlana Mikhaylova, Emily de los Reyes, Jonathan W. Mink, Nicola Specchio, Kristen Drago, Miriam Nickel, Boris Zernikow, Heather R. Adams, Jonas Denecke, Mary Anne Leung, Katherine B. Sims, Ina von Löbbecke
مصطلحات موضوعية: Neurology (clinical), Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health
Relation: url:https://www.openaccessrepository.it/communities/itmirror; https://www.openaccessrepository.it/record/86975
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المؤلفون: Lenora Lehwald, Jessica L. Cohen-Pfeffer, Karen Butler, Elizabeth Berry-Kravis, Sam Lu, James W. Wheless, Erika F. Augustine, Raymond Y. Wang, Natalie Cormier, Susan See, Joffre Olaya, Amy Vierhile, Fernanda Leal-Pardinas, Scott Demarest, Amy Yang, Jacqueline Madden, Emily de los Reyes, Dorna Chu
المصدر: Pediatric Neurology. 110:64-70
مصطلحات موضوعية: medicine.medical_specialty, Batten disease, Cerliponase alfa, Disease, Aminopeptidases, Neurosurgical Procedures, Tripeptidyl peptidase, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Neuronal Ceroid-Lipofuscinoses, 030225 pediatrics, Health care, Humans, Medicine, Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Intensive care medicine, Infusion Pumps, Patient Care Team, Tripeptidyl-Peptidase 1, business.industry, Enzyme replacement therapy, medicine.disease, Recombinant Proteins, United States, Neuronal Ceroid Lipofuscinosis Type 2, Infusions, Intraventricular, Neurology, Practice Guidelines as Topic, Pediatrics, Perinatology and Child Health, Interdisciplinary Communication, Neuronal ceroid lipofuscinosis, Neurology (clinical), Serine Proteases, business, 030217 neurology & neurosurgery
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3
المؤلفون: Maxim Y. Sheinin, Frances Rohr, K. Perry, Amarilis Sanchez-Valle, Krista Viau, Stephen D Cederbaum, J. Kopesky, Jessica L. Cohen-Pfeffer, Elaina Jurecki
المصدر: Molecular Genetics and Metabolism. 120:190-197
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Phenylketonurias, Health Personnel, Phenylalanine, Endocrinology, Diabetes and Metabolism, Staffing, 030105 genetics & heredity, Blood phenylalanine, Ambulatory Care Facilities, Biochemistry, Young Adult, 03 medical and health sciences, Endocrinology, Double-Blind Method, Older patients, Surveys and Questionnaires, Genetics, medicine, Humans, Young adult, Child, Blood testing, Molecular Biology, Adult patients, business.industry, Age Factors, Infant, Newborn, Infant, Middle Aged, United States, Current management, Child, Preschool, Practice Guidelines as Topic, Patient Compliance, Female, business
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المؤلفون: Jonathan D. Cooper, Roberto Giugliani, Michael Fietz, Winnie Xin, Helena Poupetova, Sara E. Mole, Emanuela Izzo, Nicola Specchio, David A. Pearce, Helena Jahnová, Angela Schulz, Nicole Miller, Derek Burke, Jessica L. Cohen-Pfeffer, Inés Noher de Halac, Moeenaldeen Al-Sayed, Zoltan Lukacs, Lenka Dvořáková
المصدر: Fietz, M, AlSayed, M, Burke, D, Cohen-Pfeffer, J, Cooper, J D, Dvořáková, L, Giugliani, R, Izzo, E, Jahnová, H, Lukacs, Z, Mole, S E, de Halac, I N, Pearce, D A, Poupetova, H, Schulz, A, Specchio, N, Xin, W & Miller, N 2016, ' Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis ', MOLECULAR GENETICS AND METABOLISM . https://doi.org/10.1016/j.ymgme.2016.07.011
مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Lysosomal storage disorder, Endocrinology, Diabetes and Metabolism, Genetic cause of epilepsy, Disease, Bioinformatics, Aminopeptidases, Biochemistry, Epilepsy, 0302 clinical medicine, Endocrinology, Leukocytes, Medicine, Tripeptidyl-Peptidase 1, Brain, Enzyme replacement therapy, Neuronal ceroid lipofuscinosis, Neuronal Ceroid Lipofuscinosis Type 2, Phenotype, Child, Preschool, Female, medicine.symptom, medicine.medical_specialty, Ataxia, Expert recommendations, 03 medical and health sciences, Neuronal Ceroid-Lipofuscinoses, Genetics, Humans, Dementia, Enzyme Replacement Therapy, Language Development Disorders, Neurodegeneration, Allele, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Molecular Biology, business.industry, medicine.disease, Early Diagnosis, 030104 developmental biology, Laboratory diagnosis, Mutation, Dried Blood Spot Testing, Serine Proteases, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Nicola, Longo, Georgianne L, Arnold, Gabriella, Pridjian, Gregory M, Enns, Can, Ficicioglu, Susan, Parker, Jessica L, Cohen-Pfeffer, Marybeth, Hummel
المصدر: Molecular Genetics and Metabolism. 114:557-563
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Time Factors, Adolescent, Drug-Related Side Effects and Adverse Reactions, Demographics, Phenylalanine, Endocrinology, Diabetes and Metabolism, Population, Blood phenylalanine, Biochemistry, Young Adult, Endocrinology, Continuous use, Phenylketonurias, Internal medicine, Genetics, medicine, Humans, Registries, Child, Adverse effect, education, Molecular Biology, education.field_of_study, business.industry, Infant, Newborn, Infant, Middle Aged, Biopterin, Diet, Safety profile, Child, Preschool, Tyrosine, Female, Long term safety, business
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المؤلفون: Sridharan Gururangan, Irene Slavc, Jeanne Krauser, Manfred Westphal, Marcos Vinicius Calfat Maldaun, Christoph Schwering, Adam J. Shaywitz, Jessica L. Cohen-Pfeffer, Daniel A. Lim
المصدر: Molecular genetics and metabolism. 124(3)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Best practice, CNS Involvement, Intrathecal, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Drug Delivery Systems, Central Nervous System Diseases, Genetics, Ommaya reservoir, Medicine, Humans, Intensive care medicine, Molecular Biology, Injections, Intraventricular, business.industry, Therapeutic effect, Device use, 030104 developmental biology, Drug delivery, Practice Guidelines as Topic, business, Complication, 030217 neurology & neurosurgery, Central Nervous System Agents
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المؤلفون: Erin M. Johnson, Mitzie Grant, Deborah A. Bilder, Elaina Jurecki, Joyce A. Kobori, Jessica L. Cohen-Pfeffer
المصدر: Molecular genetics and metabolism. 121(1)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Autism Spectrum Disorder, Endocrinology, Diabetes and Metabolism, Population, Comorbidity, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Age Distribution, Intellectual Disability, Phenylketonurias, Intellectual disability, Genetics, medicine, Prevalence, Humans, education, Psychiatry, Molecular Biology, Depression (differential diagnoses), Aged, Retrospective Studies, education.field_of_study, business.industry, Mental Disorders, Age Factors, Retrospective cohort study, Middle Aged, medicine.disease, Eating disorders, 030104 developmental biology, Autism spectrum disorder, Case-Control Studies, Cohort, Female, Nervous System Diseases, business, 030217 neurology & neurosurgery, Tourette Syndrome
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المؤلفون: Irene Slavc, Thomas Lester, Daniel A. Lim, Manfred Westphal, Jessica L. Cohen-Pfeffer, Adam J. Shaywitz, Sridharan Gururangan
المصدر: Pediatric Neurology.
مصطلحات موضوعية: Central nervous system, Clinical Neurology, Intrathecal, 03 medical and health sciences, Drug Delivery Systems, 0302 clinical medicine, Developmental Neuroscience, Ommaya reservoir, Humans, Medicine, In patient, Pediatrics, Perinatology, and Child Health, Intracerebroventricular route, Injections, Spinal, business.industry, Drug administration, medicine.anatomical_structure, Neurology, 030220 oncology & carcinogenesis, Anesthesia, Pediatrics, Perinatology and Child Health, Drug delivery, Neurology (clinical), business, Complication, 030217 neurology & neurosurgery, Central Nervous System Agents
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المؤلفون: Neil James, Elaina Jurecki, Jessica L. Cohen-Pfeffer, Amy Cunningham, Douglas Tingley, John J. Mahoney, Stanley Chung
المصدر: Topics in Clinical Nutrition
مصطلحات موضوعية: Nutrition and Dietetics, Stability test, business.industry, phenylalanine, Have Difficulty Swallowing, Blood phenylalanine, sapropterin, tetrahydrobiopterin, Prescribing information, Medicine, Phenylketonuria, In patient, Food science, business
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المؤلفون: Angela Schulz, Svetlana Mikhailova, Lenora Lehwald, Charlie Fairhurst, Renée Shediac, Ruth Williams, Szilard Kiss, Jessica L. Cohen-Pfeffer, Heather R. Adams, Meral Topçu, Jonas Denecke, Martin Blohm, Annamaria Kofler, Ina von Löbbecke, Margie Frazier, Norberto Guelbert, Mary-Anne Leung, Katherine B. Sims, Emily de los Reyes, Jonathan W. Mink, John A. Lawson, Andrea West, Miriam Nickel, Nicola Specchio, Kristen Drago
المصدر: Molecular Genetics and Metabolism. 117:S103-S104
مصطلحات موضوعية: Medical education, Endocrinology, Endocrinology, Diabetes and Metabolism, Expert opinion, Genetics, Disease, Psychology, Molecular Biology, Biochemistry
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11
المؤلفون: Jerry Vockley, Shoji Yano, Chin-To Fong, Barbara K. Burton, Dorothy K. Grange, Jessica L. Cohen-Pfeffer, Joellen Hunt, John J. Mahoney, Richard Hillman
المصدر: Molecular genetics and metabolism. 112(1)
مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Phenylketonuria, Maternal, Phenylalanine hydroxylase, Offspring, Endocrinology, Diabetes and Metabolism, MedDRA, Phenylalanine, Abortion, Biochemistry, Young Adult, Endocrinology, Hyperphenylalaninemia, Obstetric Labor, Premature, Pregnancy, Genetics, medicine, Humans, Adverse effect, Molecular Biology, biology, business.industry, Pregnancy Outcome, medicine.disease, Biopterin, Abortion, Spontaneous, Premature birth, biology.protein, Female, business