المؤلفون: Cary O. Harding, Nicola Longo, Hope Northrup, Stephanie Sacharow, Rani Singh, Janet A. Thomas, Jerry Vockley, Roberto T. Zori, Kaleigh Bulloch Whitehall, Joshua Lilienstein, Kristin Lindstrom, Drew G. Levy, Shaun Jones, Barbara K. Burton

المصدر: Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101084- (2024)

مصطلحات موضوعية: Pegvaliase, PEGylated phenylalanine ammonia lyase, Phenylalanine, Phenylketonuria, PRISM, Recombinant Anabaena variabilis, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000375; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/6fbed4664755487a94a0d9b21a7cacaa

المؤلفون: Shawn E. McCandless, Allison A. Bannick, Roberto T. Zori, Uta Lichter-Konecki, Nicola Longo, Michal Inbar-Feigenberg, Thomas Vescio, Nicholas Ah Mew, Teresa Kok, Marty Porter, Colleen Canavan, Andreas Schulze, George A. Diaz, Susan A. Berry, Bryan E. Hainline, Robert L. Conway

المصدر: Molecular genetics and metabolism

مصطلحات موضوعية: Glycerol, Male, 0301 basic medicine, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, 030105 genetics & heredity, Pediatrics, Biochemistry, Gastroenterology, chemistry.chemical_compound, Neonate, 0302 clinical medicine, Endocrinology, Hyperammonemia, Glycerol phenylbutyrate, Age of Onset, Urea Cycle Disorders, Inborn, Phenylacetates, Pediatric, education.field_of_study, Phenylbutyrates, Child, Preschool, Urea cycle, Female, Hemodialysis, medicine.medical_specialty, Urea cycle disorder, Population, Neonatal onset, Article, 03 medical and health sciences, Pharmacokinetics, Ammonia, Renal Dialysis, Internal medicine, Genetics, medicine, Humans, education, Molecular Biology, business.industry, Infant, Newborn, Infant, medicine.disease, chemistry, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::412660dd7529e583306ac753f1621134
https://doi.org/10.1016/j.ymgme.2020.12.002

المؤلفون: Richard Rowell, Elaina Jurecki, K. Ahring, Ashok Jha, Frank Rutsch, Roberto T. Zori, Gregory M. Pastores, Barbara K. Burton, Cary O. Harding

المصدر: Molecular Genetics and Metabolism. 128:92-101

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Time Factors, Standard of care, Adolescent, Phenylalanine hydroxylase, Phenylalanine, Endocrinology, Diabetes and Metabolism, Pegvaliase, 030105 genetics & heredity, Biochemistry, Gastroenterology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Phenylketonurias, Internal medicine, Genetics, medicine, Humans, Registries, Propensity Score, Molecular Biology, Phenylalanine Ammonia-Lyase, biology, business.industry, Standard treatment, Dietary management, Standard of Care, Middle Aged, Biopterin, Recombinant Proteins, Clinical trial, Treatment Outcome, Propensity score matching, biology.protein, Female, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6a4abb40ceca664d7ce8e2ba19a535b
https://doi.org/10.1016/j.ymgme.2019.07.018

المؤلفون: Heather Bausell, Harvey L. Levy, Krista Viau, Stephanie Sacharow, Cary O. Harding, Amarilis Sanchez-Valle, David Dimmock, Mary Stuy, Jerry Vockley, Fran Rohr, Christel Gross, Barbara K. Burton, Nicola Longo, Hope Northrup, Janet A. Thomas, Roberto T. Zori, Deborah A. Bilder

المصدر: Genetics in Medicine

مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Adolescent, Phenylalanine, media_common.quotation_subject, education, Modified delphi, Medical laboratory, Treatment goals, Pegvaliase, 030105 genetics & heredity, anaphylaxis management, Special Article, PALYNZIQ, pegvaliase, Young Adult, 03 medical and health sciences, Phenylketonurias, Voting, medicine, Humans, Agree ii, Dosing, Child, health care economics and organizations, Genetics (clinical), Phenylalanine Ammonia-Lyase, media_common, Dose-Response Relationship, Drug, hypophenylalaninemia, business.industry, Dietary management, Middle Aged, Recombinant Proteins, 030104 developmental biology, Family medicine, dietary management, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d821ad227819b1800318b0a7977449cc
https://doi.org/10.1038/s41436-018-0403-z

المؤلفون: Wendy E. Smith, Susan A. Berry, Beth Robinson, Can Ficicioglu, Alexander A. Vinks, George A. Diaz, Min Dong, Renee Perdok, Shawn E. McCandless, Jerry Vockley, Nicola Longo, Roberto T. Zori, Cary O. Harding, Uta Lichter-Konecki, Robert J. Holt

المصدر: Molecular Genetics and Metabolism. 125:251-257

مصطلحات موضوعية: Glycerol, Male, 0301 basic medicine, medicine.medical_specialty, Nitrogen, Glutamine, Endocrinology, Diabetes and Metabolism, Phenylacetic acid, Biochemistry, Phenylbutyrate, 03 medical and health sciences, chemistry.chemical_compound, Endocrinology, Pharmacokinetics, Internal medicine, Genetics, medicine, Humans, Prodrugs, Glycerol phenylbutyrate, Child, Urea Cycle Disorders, Inborn, Molecular Biology, Phenylacetates, Chemistry, Infant, Lipase, Prodrug, Phenylbutyrates, 030104 developmental biology, Child, Preschool, Urea cycle, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f364d0992f7508ea5e5719a5ae2290d
https://doi.org/10.1016/j.ymgme.2018.09.001

المؤلفون: Cary O. Harding, Stephen J. Zoog, Roberto T. Zori, Markus Merilainen, Joy Olbertz, Zhonghua Gu, Nicola Longo, Yulan Qi, Becky Schweighardt, Kevin Larimore, Joshua Henshaw, Barbara K. Burton, Soumi Gupta, Haoling H. Weng, Gina Patel, Mingjin Li

المصدر: Clinical and Translational Science
Clinical and Translational Science, Vol 14, Iss 5, Pp 1894-1905 (2021)

مصطلحات موضوعية: Adult, Male, 030213 general clinical medicine, Phenylalanine hydroxylase, Phenylalanine, RM1-950, Pharmacology, 030226 pharmacology & pharmacy, General Biochemistry, Genetics and Molecular Biology, Article, Drug Hypersensitivity, 03 medical and health sciences, 0302 clinical medicine, Pharmacokinetics, Phenylketonurias, media_common.cataloged_instance, Medicine, Humans, Dosing, General Pharmacology, Toxicology and Pharmaceutics, European union, media_common, Phenylalanine Ammonia-Lyase, biology, business.industry, General Neuroscience, Immunogenicity, Incidence, Research, General Medicine, Articles, Recombinant Proteins, United States, Treatment Outcome, Tolerability, Pharmacodynamics, biology.protein, Female, Therapeutics. Pharmacology, Public aspects of medicine, RA1-1270, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::634ab2a80e5f2913108fed592412a468
https://pubmed.ncbi.nlm.nih.gov/34057292

المؤلفون: Penny E. Straughn, Roberto T. Zori, Siva S R Iyer, Swati Agarwal-Sinha, Jessica F. Yang, Mark B. Sherwood, Ramak Roohipourmoallai

المصدر: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 25(5)

مصطلحات موضوعية: Male, Posterior embryotoxon, Iris, Persistent Hyperplastic Primary Vitreous, Microphthalmia, Cataract, Dysgenesis, medicine, Humans, Microphthalmos, Eye Abnormalities, Iris (anatomy), Persistent fetal vasculature, Corectopia, business.industry, Anatomy, medicine.disease, eye diseases, Microcornea, Ophthalmology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Congenital cataracts, sense organs, medicine.symptom, Chromosome Deletion, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25fde3393361f4d438fcad945b39f8d5
https://pubmed.ncbi.nlm.nih.gov/34582953

المؤلفون: Susan L. Potts, Leslie S. Sloan, George A. Diaz, J. Lawrence Merritt, Gillian Bubb, Anthony G. Quinn, Allison A. Bannick, Spyros Batzios, Roberto T. Zori, Andreas Schulze, Elisa Leão-Teles, Gregory M. Enns, Markey C. McNutt

المصدر: Journal of Inherited Metabolic Disease

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Abdominal pain, Adolescent, hyperammonemia, Vomiting, Hyperargininemia, Arginine, Gastroenterology, Young Adult, ARG1‐D, Internal medicine, Genetics, medicine, Humans, Dosing, Adverse effect, Child, Genetics (clinical), PARG, Arginase, business.industry, Standard treatment, Disease Management, spasticity, Hyperammonemia, Original Articles, medicine.disease, Recombinant Proteins, United States, arginase 1 deficiency, Child, Preschool, Female, Original Article, medicine.symptom, pegzilarginase, business, human enzyme

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ebd537dcc052cc6e0a5e2aa39c1eebf
https://pubmed.ncbi.nlm.nih.gov/33325055

المؤلفون: Roberto T. Zori, Zhenyuan Wang, Sarah Nimrichter, Julie Muskett

المصدر: Molecular Genetics and Metabolism. 132:S91-S92

مصطلحات موضوعية: Persistence (psychology), Fetus, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Intellectual disability, Genetics, medicine, medicine.disease, business, Molecular Biology, Biochemistry, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f19945cc393c0a74af14d49e455cbb35
https://doi.org/10.1016/s1096-7192(21)00223-7

المؤلفون: Monique M. Ryan, Roberto T. Zori, Diana Bharucha-Goebel, Matthew White, Carsten G. Bönnemann, Henry Houlden, Reza Maroofian, Jemeen Sreedharan, Karit Reinson, Noora Andersson, Mariëtte J.V. Hoffer, Monica H. Wojcik, Maie Walsh, Olli Carpén, Emilia K. Bijlsma, Marie-José H. van den Boogaard, Rosa Woldegebriel, Fang Zhao, Sara Winchester, Emil Ylikallio, Inge Cuppen, Zornitza Stark, Murray Stewart, Jouni Kvist, Henna Tyynismaa, Emer O'Connor, Sandra Donkervoort, Katrin Õunap

المساهمون: Centre of Excellence in Stem Cell Metabolism, STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, University of Helsinki, HUS Children and Adolescents, Department of Pathology, Helsinki University Hospital Area, Research Program in Systems Oncology, HUSLAB, Precision Cancer Pathology, Olli Mikael Carpen / Principal Investigator, Clinicum, HUS Neurocenter, Department of Neurosciences, Neurologian yksikkö, Department of Medical and Clinical Genetics, Staff Services, Henna Tyynismaa / Principal Investigator, Neuroscience Center, Helsinki Institute of Life Science HiLIFE

المصدر: Human Molecular Genetics, 29(9), 1426-1439. OXFORD UNIV PRESS
Human Molecular Genetics

مصطلحات موضوعية: AcademicSubjects/SCI01140, Male, PROMOTES, Protein Conformation, SAGA, RNA Transport, Transcriptome, INITIATION, 0302 clinical medicine, Transcription (biology), Gene expression, TRANSCRIPTION, Age of Onset, Child, Genetics (clinical), SAC3, Regulation of gene expression, Genetics, 0303 health sciences, TREX-2 COMPLEX, 1184 Genetics, developmental biology, physiology, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Peripheral Nervous System Diseases, General Medicine, Phenotype, Child, Preschool, Antigens, Surface, Female, General Article, MCM3AP, Biology, REGION, 03 medical and health sciences, Acetyltransferases, Intellectual Disability, Humans, RNA, Messenger, Molecular Biology, Transcription factor, Gene, 030304 developmental biology, Glycoproteins, Cell Nucleus, Flavoproteins, Intron, PATHWAYS, Phosphoproteins, Introns, Phosphoric Monoester Hydrolases, Exodeoxyribonucleases, Gene Expression Regulation, REPLICATION, 1182 Biochemistry, cell and molecular biology, 3111 Biomedicine, Nervous System Diseases, 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7780efc3f8291732bd404810d3e154b
https://openaccess.sgul.ac.uk/id/eprint/111823/1/ddaa051.pdf