المؤلفون: Olofsson, Sara, Löfvendahl, Sofia, Widén, Julia, Rudebeck, Mattias, Lindgren, Peter, Stepien, Karolina M., Arnoux, Jean Baptiste, Luz Couce Pico, Maria, Leão Teles, Elisa, Jacobson, Lena

المصدر: Journal of Medical Economics. 27(1):1146-1156

مصطلحات موضوعية: Arginase 1 deficiency, caregiver, health-related quality-of-life, societal cost, survey, Medicin och hälsovetenskap, Hälsovetenskap, Hälso- och sjukvårdsorganisation, hälsopolitik och hälsoekonomi, Medical and Health Sciences, Health Sciences, Health Care Service and Management, Health Policy and Services and Health Economy

URL الوصول: https://lup.lub.lu.se/record/f8fd0d6b-6a2a-44d6-931f-7f76efa4c16c
http://dx.doi.org/10.1080/13696998.2024.2400856

المؤلفون: Reena Sharma, John Bassett, Karolina M. Stepien, Andrew Oldham, Ana Jovanovic, Alison Woodall, Diane Green

المصدر: JIMD Reports, Vol 65, Iss 6, Pp 382-391 (2024)

مصطلحات موضوعية: ammonia scavengers, arginase 1 deficiency (ARG1‐D), enzyme replacement therapy, hyperargininaemia, pegzilarginase, urea cycle disorders, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/1046e8b567b148329989c95b38ab4eb5

المؤلفون: Sara Olofsson, Sofia Löfvendahl, Julia Widén, Lena Jacobson, Peter Lindgren, Karolina M. Stepien, Jean‐Baptiste Arnoux, Maria Luz Couce Pico, Elisa Leão Teles, Mattias Rudebeck

المصدر: JIMD Reports, Vol 65, Iss 6, Pp 450-460 (2024)

مصطلحات موضوعية: ARG1‐D, arginase 1 deficiency, caregiver, disease burden, patient perspective, urea cycle disorder, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/75e89c23a1d74a5e915f5192fa93b4ec

المؤلفون: Aseel Bin Sawad, Arti Pothukuchy, Mark Badeaux, Victoria Hodson, Gillian Bubb, Kristina Lindsley, Jennifer Uyei, George A. Diaz

المصدر: JIMD Reports, Vol 63, Iss 4, Pp 330-340 (2022)

مصطلحات موضوعية: ARG1‐D, Arginase 1 deficiency, hyperargininemia, newborn screening, pegzilarginase, systematic literature review, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/49a08f5f92874dddae992949f679d7b7

المؤلفون: West, Erin, E, Merle, Nicolas, S, Kamiński, Marcin, M, Palacios, Gustavo, Kumar, Dhaneshwar, Wang, Luopin, Bibby, Jack, A, Overdahl, Kirsten, Jarmusch, Alan, K, Freeley, Simon, Lee, Duck-Yeon, Thompson, J, Will, Yu, Zu-Xi, Taylor, Naomi, Sitbon, Marc, Green, Douglas, R, Bohrer, Andrea, Mayer-Barber, Katrin, D, Afzali, Behdad, Kazemian, Majid, Scholl-Buergi, Sabine, Karall, Daniela, Huemer, Martina, Kemper, Claudia

المساهمون: National Institutes of Health Bethesda, MD, USA (NIH), St Jude Children's Research Hospital, Purdue University West Lafayette, National Institute of Environmental Health Sciences Durham, NC, USA (NIEHS-NIH), King‘s College London, National Heart, Lung, and Blood Institute Bethesda (NHLBI), Duke University Durham, Institut de Génétique Moléculaire de Montpellier (IGMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), National Cancer Institute Bethesda (NCI-NIH), National Institute of Allergy and Infectious Diseases Phnom Penh, Cambodia (NIAID), National Institute of Allergy and Infectious Diseases Bethesda (NIAID-NIH), National Institutes of Health Bethesda, MD, USA (NIH)-National Institutes of Health Bethesda, MD, USA (NIH), Laboratory of Biological Modeling (NIDDK), Leopold Franzens Universität Innsbruck - University of Innsbruck, University Children's Hospital Basel, Switzerland

المصدر: ISSN: 1074-7613 ; Immunity ; https://hal.science/hal-04600452 ; Immunity, 2023, 56 (9), pp.2036-2053.e12. ⟨10.1016/j.immuni.2023.07.014⟩.

مصطلحات موضوعية: IFN-γ, IL-10, Th1 immunity, arginase 1, arginase 1 deficiency, autoimmunity, cell metabolism, complement, glutamine, influenza infection, MESH: Animals, MESH: Humans, MESH: Mice, MESH: Arginase, MESH: CD4-Positive T-Lymphocytes, MESH: Glutamine, MESH: Influenza, Human, MESH: Kinetics, MESH: Lung, MESH: Mammals, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, [SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract

Relation: info:eu-repo/semantics/altIdentifier/pmid/37572656; PUBMED: 37572656; PUBMEDCENTRAL: PMC10576612

الاتاحة: https://hal.science/hal-04600452
https://hal.science/hal-04600452v1/document
https://hal.science/hal-04600452v1/file/nihms-1923920.pdf
https://doi.org/10.1016/j.immuni.2023.07.014

المؤلفون: Jun Kido, Shirou Matsumoto, Eiko Takeshita, Chiemi Hayakawa, Keitaro Yamada, Jiro Kagawa, Yoko Nakajima, Tetsuya Ito, Hiroyuki Iijima, Fumio Endo, Kimitoshi Nakamura

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100805- (2021)

مصطلحات موضوعية: Arginase 1 deficiency, Cholestasis, Epilepsy, Hyperargininemia, Liver transplantation, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000999; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/c4b22b71401143fe8b39cc0b21142d7c

المؤلفون: Chennupati, Ramesh, Meens, Merlijn J., Janssen, Ben J., van Dijk, Paul, Hakvoort, Theodorus B. M., Lamers, Wouter H., De Mey, Jo G. R., Koehler, S. Eleonore

المصدر: Chennupati , R , Meens , M J , Janssen , B J , van Dijk , P , Hakvoort , T B M , Lamers , W H , De Mey , J G R & Koehler , S E 2018 , ' Deletion of endothelial arginase 1 does not improve vasomotor function in diabetic mice ' , Physiological Reports , vol. 6 , no. 11 , 13717 . https://doi.org/10.14814/phy2.13717

مصطلحات موضوعية: Arginase 1 deficiency, endothelial dysfunction, nitric oxide, NITRIC-OXIDE SYNTHASE, HYPERPOLARIZING FACTOR, VASCULAR-DISEASE, GAP-JUNCTIONS, DEPENDENT HYPERPOLARIZATION, HEMATOPOIETIC-CELLS, SUPEROXIDE ANION, BLOOD-PRESSURE, UP-REGULATION, MOUSE MODEL

Relation: https://cris.maastrichtuniversity.nl/en/publications/3afb4a5b-f3bb-41a2-9adb-bb3f91fcf171

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/3afb4a5b-f3bb-41a2-9adb-bb3f91fcf171
https://doi.org/10.14814/phy2.13717

المؤلفون: Kimitoshi Nakamura, Chiemi Hayasaka, Yoko Nakajima, Jun Kido, Shirou Matsumoto, Fumio Endo, Jiro Kagawa, Keitaro Yamada, Eiko Takeshita, Hiroyuki Iijima, Tetsuya Ito

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100805-(2021)

مصطلحات موضوعية: Medicine (General), Pediatrics, medicine.medical_specialty, Urea cycle disorder, WAIS, Wechsler Adult Intelligence Scale, QH301-705.5, medicine.medical_treatment, Hyperargininemia, Disease, Liver transplantation, complex mixtures, Epilepsy, R5-920, Endocrinology, Cholestasis, Genetics, medicine, Biology (General), ARG1, Molecular Biology, LT, Liver transplant, business.industry, HPT, Hepaplastin test, UCD, Urea cycle disorder, medicine.disease, Arginase 1 deficiency, Arginase, GAA, Guanidino acetate, CT, Computed tomography, business, NBS, Newborn screening, Research Paper, WISC, Wechsler Intelligence Scale for Children

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::236b252d9d0acfaeacd3749ecb87ec23
http://europepmc.org/articles/PMC8495172

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

مصطلحات موضوعية: hyperammonemia, ARG1- D, arginase 1 deficiency, spasticity, pegzilarginase, hyperargininemia, human enzyme, Medicine (General), Health Sciences

وصف الملف: application/pdf

Relation: Diaz, George A.; Schulze, Andreas; McNutt, Markey C.; Leão‐teles, Elisa; Merritt, J. Lawrence; Enns, Gregory M.; Batzios, Spyros; Bannick, Allison; Zori, Roberto T.; Sloan, Leslie S.; Potts, Susan L.; Bubb, Gillian; Quinn, Anthony G. (2021). "Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency." Journal of Inherited Metabolic Disease 44(4): 847-856.; https://hdl.handle.net/2027.42/168523; Journal of Inherited Metabolic Disease; Sin YY, Baron G, Schulze A, Funk CD. Arginase- 1 deficiency. J Mol Med. 2015; 93 ( 12 ): 1287 - 1296.; Cederbaum SD, Shaw KN, Spector EB, Verity MA, Snodgrass PJ, Sugarman GI. Hyperargininemia with arginase deficiency. Pediatr Res. 1979; 13: 827 - 833.; Waisbren SE, Cuthbertson D, Burgard P, Holbert A, McCarter R, Cederbaum S. Members of the urea cycle disorders consortium. Biochemical markers and neuropsychological functioning in distal urea cycle disorders. J Inherit Metab Dis. 2018; 41 ( 4 ): 657 - 667.; Carvalho DR, Brand GD, Brum JM, Takata RI, Speck- Martins CE, Pratesi R. Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. Gene. 2012; 509 ( 1 ): 124 - 130.; Scholl- Bürgi S, Baumgartner Sigl S, Häberle J, et al. Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency. J Inherit Metab Dis. 2008; 31 ( S2 ): S323 - S328.; De Deyn P, Marescau B, Qureshi I, Mori A. Hyperargininemia: a treatable inborn error of metabolism? The Fourth International Symposium on Guanidino Compounds in Biology and Medicine: Guanidino Compounds in Biology & Medicine II; 1997: 53 - 69.; Schlune A, vom Dahl S, Häussinger D, Ensenauer R, Mayatepek E. Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature. Amino Acids. 2015; 47: 1751 - 1762.; Geiger R, Strasak A, Treml B, et al. Six- minute walk test in children and adolescents. J Pediatr. 2007; 150 ( 4 ): 395 - 399.; Deshmukh DR, Sarnaik AP, Marescau B, et al. Guanidino compound metabolism in arginine- free diet induced hyperammonemia. Enzyme. 1991; 45 ( 3 ): 128 - 136.; Sakiyama T, Nakabayashi H, Shimizu H, Kondo W, Kodama S, Kitagawa T. A successful trial of enzyme replacement therapy in a case of argininemia. Tohoku J Exp Med. 1984; 142 ( 3 ): 239 - 248.; Wu G, Morris SM. Arginine metabolism: nitric oxide and beyond. Biochem J. 1998; 336 ( Pt 1 ): 1 - 17.; Oeffinger D, Bagley A, Rogers S, et al. Outcome tools used for ambulatory children with cerebral palsy: responsiveness and minimum clinically important differences. Dev Med Child Neurol. 2008; 50 ( 12 ): 918 - 925.; Schrover R, Evans K, Giugliani R, Noble I, Bhattacharya K. Minimal clinically important difference for the 6- min walk test: literature review and application to Morquio a syndrome. Orphanet J Rare Dis. 2017; 12 ( 1 ): 78.; NIH. ToolboxR Scoring and Interpretation Guide for the iPad; 2016.; Haller C, Song W, Cimms T, et al. Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population. JIMD Rep. 2019; 49 ( 1 ): 53 - 62.; Burrage LC, Sun Q, Elsea SH, et al. Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 2015; 24 ( 22 ): 6417 - 6427.; Desnick RJ, Schuchman EH. Enzyme replacement therapy for lysosomal diseases: lessons from 20- years of experience and remaining challenges. Annu Rev Genomics Hum Genet. 2012; 13: 307 - 335.; Lambert MA, Marescau B, Desjardins M, et al. Hyperargininemia: intellectual and motor improvement related to changes in biochemical data. J Pediatr. 1991; 118 ( 3 ): 421 - 424.; Cederbaum SD, Moedjono SJ, Shaw KN, Carter M, Naylor E, Walzer M. Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet. J Inherit Metab Dis. 1982; 5: 95 - 99.; Häberle J, Burlina A, Chakrapani A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision. J Inherit Metab Dis. 2019; 42 ( 6 ): 1192 - 1230.; Huemer M, Carvalho DR, Brum JM, et al. Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. J Inherit Metab Dis. 2016; 39 ( 3 ): 331 - 340.

الاتاحة: https://hdl.handle.net/2027.42/168523
https://doi.org/10.1002/jimd.12343

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: Sadanandavalli Retnaswami Chandra, Ganaraja Valakunja Harikrishna, Chakravarthula Nitin Ramanujam, Rita Christopher

المصدر: Journal of Pediatric Neurosciences

مصطلحات موضوعية: Microcephaly, Pediatrics, medicine.medical_specialty, business.industry, General Neuroscience, hyperargininemia, Metabolic disorder, Hyperargininemia, Context (language use), treatable inborn error of metabolism, Consanguinity, medicine.disease, Arginase 1 deficiency, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, Failure to thrive, medicine, Original Article, Spasticity, medicine.symptom, Sibling, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a618303f2b4fda4fc3b7c012b83a088a
https://doi.org/10.4103/jpn.jpn_1_19

المؤلفون: Baron, Garrett

المساهمون: Funk, Colin D., Biomedical and Molecular Sciences

مصطلحات موضوعية: Gene Editing, Arginase 1 deficiency, CRISPR/Cas9, Urea Cycle Disorder

Relation: Canadian theses; http://hdl.handle.net/1974/14981

الاتاحة: http://hdl.handle.net/1974/14981

المؤلفون: Queen's University (Kingston, Ont.). Theses (Queen's University (Kingston, Ont.)), Baron, Garrett

مصطلحات الفهرس: Gene Editing, Arginase 1 deficiency, CRISPR/Cas9, Urea Cycle Disorder, Thesis

URL: http://hdl.handle.net/1974/14981
Canadian theses