المؤلفون: Nitzahn, Matthew, Truong, Brian, Khoja, Suhail, Vega-Crespo, Agustin, Le, Colleen, Eliav, Adam, Makris, Georgios, Pyle, April, Häberle, Johannes, Lipshutz, Gerald

المصدر: Yale Journal of Biology and Medicine. 94(4)

مصطلحات موضوعية: CRISPR/Cas9, Carbamoyl phosphate synthetase deficiency, gene therapy, hyperammonemia, iPSC, Carbamoyl-Phosphate Synthase (Ammonia), Clustered Regularly Interspaced Short Palindromic Repeats, Genomics, Homeostasis, Humans, Induced Pluripotent Stem Cells, Nitrogen

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/42c77124
https://escholarship.org/content/qt42c77124/qt42c77124.pdf

المؤلفون: Nitzahn, Matthew, Lipshutz, Gerald S

المصدر: Molecular Genetics and Metabolism. 131(3)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Nutrition, Digestive Diseases, Good Health and Well Being, Ammonia, Carbamoyl-Phosphate Synthase (Ammonia), Carbamoyl-Phosphate Synthase I Deficiency Disease, Homeostasis, Humans, Urea, Urea Cycle Disorders, Inborn, Clinical Sciences, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1pf0r3zq

المؤلفون: Nitzahn, Matthew, Allegri, Gabriella, Khoja, Suhail, Truong, Brian, Makris, Georgios, Häberle, Johannes, Lipshutz, Gerald S

المصدر: Molecular Therapy. 28(7)

مصطلحات موضوعية: Medical Biotechnology, Biomedical and Clinical Sciences, Rare Diseases, Digestive Diseases, Gene Therapy, Neurosciences, Brain Disorders, Liver Disease, Nutrition, Genetics, Development of treatments and therapeutic interventions, 5.2 Cellular and gene therapies, Ammonia, Animals, Carbamoyl-Phosphate Synthase (Ammonia), Carbamoyl-Phosphate Synthase I Deficiency Disease, DNA Packaging, Dependovirus, Disease Models, Animal, Female, Genetic Therapy, Genetic Vectors, Humans, Mice, Proof of Concept Study, Urea, adeno-associated virus, carbamoyl phosphate synthetase deficiency, gene therapy, hyperammonemia, split AAV, urea cycle disorder, ureagenesis, Biological Sciences, Technology, Medical and Health Sciences, Biotechnology, Clinical sciences, Medical biotechnology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0tc4j8kr

المؤلفون: Khoja, Suhail, Nitzahn, Matt, Hermann, Kip, Truong, Brian, Borzone, Roberta, Willis, Brandon, Rudd, Mitchell, Palmer, Donna J, Ng, Philip, Brunetti-Pierri, Nicola, Lipshutz, Gerald S

المصدر: Molecular Genetics and Metabolism. 124(4)

مصطلحات موضوعية: Medical Biotechnology, Biomedical and Clinical Sciences, Gene Therapy, Biotechnology, Orphan Drug, Neurosciences, Rare Diseases, Liver Disease, Genetics, Digestive Diseases, 5.2 Cellular and gene therapies, Ammonia, Animals, Carbamoyl-Phosphate Synthase (Ammonia), Carbamoyl-Phosphate Synthase I Deficiency Disease, Carbamyl Phosphate, Female, Gene Expression Regulation, Enzymologic, Genetic Therapy, Glutamine, Humans, Hyperammonemia, Liver, Male, Mice, Mice, Knockout, Mutation, Orotate Phosphoribosyltransferase, Orotidine-5'-Phosphate Decarboxylase, Purine-Pyrimidine Metabolism, Inborn Errors, Carbamoyl phosphate, synthetase deficiency, Gene therapy, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5rs7f0mt
https://escholarship.org/content/qt5rs7f0mt/qt5rs7f0mt.pdf

المؤلفون: Soria, Leandro R., Makris, Georgios, D'Alessio, Alfonso M., De Angelis, Angela, Boffa, Iolanda, Pravata, Veronica M., Rüfenacht, Véronique, Attanasio, Sergio, Nusco, Edoardo, Arena, Paola, Ferenbach, Andrew T., Paris, Debora, Cuomo, Paola, Motta, Andrea, Nitzahn, Matthew, Lipshutz, Gerald S., Martínez-Pizarro, Ainhoa, Richard, Eva, Desviat, Lourdes R., Häberle, Johannes, van Aalten, Daan M. F., Brunetti-Pierri, Nicola

المصدر: Soria , L R , Makris , G , D'Alessio , A M , De Angelis , A , Boffa , I , Pravata , V M , Rüfenacht , V , Attanasio , S , Nusco , E , Arena , P , Ferenbach , A T , Paris , D , Cuomo , P , Motta , A , Nitzahn , M , Lipshutz , G S , Martínez-Pizarro , A , Richard , E , Desviat , L R , Häberle , J , van Aalten , D M F & Brunetti-Pierri , N 2022 , ....

مصطلحات موضوعية: Acetylglucosamine, Ammonia/metabolism, Animals, Carbamoyl-Phosphate Synthase (Ammonia)/genetics, Disease Models, Animal, Hyperammonemia/genetics, Mammals/metabolism, Mice, N-Acetylglucosaminyltransferases/genetics, Propionic Acidemia, Protein Processing, Post-Translational, Urea/metabolism, Uridine Diphosphate/metabolism, /dk/atira/pure/subjectarea/asjc/1000, name=General, /dk/atira/pure/subjectarea/asjc/3100/3100, name=General Physics and Astronomy, /dk/atira/pure/subjectarea/asjc/1600/1600, name=General Chemistry, /dk/atira/pure/subjectarea/asjc/1300/1300, name=General Biochemistry,Genetics and Molecular Biology

وصف الملف: application/pdf

الاتاحة: https://discovery.dundee.ac.uk/en/publications/06deeb8d-b273-44dc-9065-2e5e2a416baa
https://doi.org/10.1038/s41467-022-32904-x
https://discovery.dundee.ac.uk/ws/files/80561964/s41467_022_32904_x_1_.pdf
http://www.scopus.com/inward/record.url?scp=85137209674&partnerID=8YFLogxK

المؤلفون: Gallego-Durán, Rocío, Ampuero, Javier, Pastor-Ramírez, Helena, Álvarez-Amor, Leticia, Del Campo, Jose Antonio, Maya-Miles, Douglas, Montero-Vallejo, Rocío, Cárdenas-García, Antonio, Pareja, Mª Jesús, Gato-Zambrano, Sheila, Millán, Raquel, Del Carmen Rico, María, Luque-Sierra, Amparo, Gil-Gómez, Antonio, Rojas, Ángela, Muñoz-Hernández, Rocío, García-Lozano, María, Aller, Rocío, Andrade, Raúl J, García-Monzón, Carmelo, Andreola, Fausto, Martín, Francisco, Jalan, Rajiv, Romero-Gómez, Manuel

مصطلحات موضوعية: Animals, Carbamoyl-Phosphate Synthase (Ammonia), Diet, High-Fat, Disease Models, Animal, Humans, Liver, Liver Cirrhosis, Mice, Inbred C57BL, Non-alcoholic Fatty Liver Disease, Urea

وصف الملف: application/pdf

Relation: http://hdl.handle.net/10668/19588; PMC8888708; https://www.nature.com/articles/s41598-022-06614-9.pdf; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8888708/pdf

الاتاحة: http://hdl.handle.net/10668/19588
https://doi.org/10.1038/s41598-022-06614-9
https://www.nature.com/articles/s41598-022-06614-9.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8888708/pdf

المؤلفون: Shahid, Mohammad, Mubeen, Aysha, Tse, Julie, Kakar, Sanjay, Bateman, Adrian C, Borger, Darrell, Rivera, Miguel N, Ting, David T, Deshpande, Vikram

المصدر: The American Journal of Surgical Pathology. 39(1)

مصطلحات موضوعية: Cancer, Liver Disease, Digestive Diseases, Aged, Aged, 80 and over, Arginase, Automation, Laboratory, Biomarkers, Tumor, Biopsy, Carbamoyl-Phosphate Synthase (Ammonia), Carcinoma, Hepatocellular, Cell Differentiation, Diagnosis, Differential, England, Female, Humans, Immunohistochemistry, In Situ Hybridization, Liver Neoplasms, Male, Middle Aged, Predictive Value of Tests, RNA, Messenger, Serum Albumin, Serum Albumin, Human, Tissue Array Analysis, United States, Clinical Sciences, Pathology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4fj4z5xj

المؤلفون: Ceccacci S., Deitersen J., Mozzicafreddo M., Morretta E., Proksch P., Wesselborg S., Stork B., Monti M. C.

المساهمون: Ceccacci, S., Deitersen, J., Mozzicafreddo, M., Morretta, E., Proksch, P., Wesselborg, S., Stork, B., Monti, M. C.

مصطلحات موضوعية: Bioactive xanthone, Drug affinity responsive target stability, Molecular docking, Proteomic, Targeted-limited proteolysi, Carbamoyl-Phosphate Synthase (Ammonia), HeLa Cell, Human, Molecular Docking Simulation, Phomopsi, Xanthones

Relation: info:eu-repo/semantics/altIdentifier/pmid/32498414; info:eu-repo/semantics/altIdentifier/wos/WOS:000553896900001; volume:10; issue:6; numberofpages:12; journal:BIOMOLECULES; https://hdl.handle.net/11566/300014; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85086007061

الاتاحة: https://hdl.handle.net/11566/300014
https://doi.org/10.3390/biom10060846

المؤلفون: Xinyao Qiu, Lei Chen, Jin Gu, Hongyang Wang, Chengjun Sui, Yangqianwen Zhang, Yan Zhao, Jinxia Bao, Qiuyu Lian, Bo Zheng, Siyun Shen, Guijuan Luo, Shan Wang, Jing Tang, Yani Zhang, Wenwen Wang, Shuai Yang, Zhixuan Li, Ji Hu, Zhao Yang, Kaiting Wang, Yanjing Zhu, Xuan Wu, Tong Wu, Jianmin Wu

المصدر: Hepatology. 74:3249-3268

مصطلحات موضوعية: Male, Carcinoma, Hepatocellular, Carbamoyl-Phosphate Synthase (Ammonia), Mice, Nude, Biology, medicine.disease_cause, Gas Chromatography-Mass Spectrometry, Mice, Cell Line, Tumor, medicine, Animals, Humans, Urea Cycle Disorders, Inborn, neoplasms, Gene, Hepatology, Cell growth, Liver Neoplasms, Cancer, DNA Methylation, Carbamoyl phosphate synthetase, medicine.disease, digestive system diseases, Case-Control Studies, Hepatocellular carcinoma, Urea cycle, Neoplastic Stem Cells, FOXM1, Cancer research, Transcriptome, Carcinogenesis, Neoplasm Transplantation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5e6ff7ba973c2e464c35f1af95acaa0
https://doi.org/10.1002/hep.32088

المؤلفون: Read, Randy J, McCoy, Airlie J

مصطلحات موضوعية: likelihood, single-wavelength anomalous diffraction, substructure determination, Animals, Bacterial Proteins, Carbamoyl-Phosphate Synthase (Ammonia), Chick Embryo, Crystallography, X-Ray, Ferredoxins, Fourier Analysis, Likelihood Functions, Macromolecular Substances, Muramidase, Protein Conformation, Thioredoxins

وصف الملف: Print-Electronic; application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://www.repository.cam.ac.uk/handle/1810/275503

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/275503
https://doi.org/10.17863/CAM.22738

المؤلفون: Zhen Jiang, Chen Wei, Yaomin Luo, Yang Xiao, Li Wang, Wubin Guo, Xiaoxia Yuan

المصدر: Journal of Clinical Laboratory Analysis. 36

مصطلحات موضوعية: Microbiology (medical), Carbamyl Phosphate, Ornithine-Oxo-Acid Transaminase, Biochemistry (medical), Clinical Biochemistry, Carbamoyl-Phosphate Synthase (Ammonia), Public Health, Environmental and Occupational Health, Antineoplastic Agents, Hematology, Medical Laboratory Technology, Ammonia, Stomach Neoplasms, Tandem Mass Spectrometry, Humans, Immunology and Allergy, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41fedbefe97286fb7d08220f748af7f7
https://doi.org/10.1002/jcla.24692

المؤلفون: Carmen Diez-Fernandez, Corinne Gemperle, Véronique Rüfenacht, D. Sean Froese, Ljubica Caldovic, Matthias Lauber, Johannes Häberle, Georgios Makris

المساهمون: University of Zurich, Häberle, Johannes

المصدر: Biochimie. 183:89-99

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, 1303 Biochemistry, Amino-Acid N-Acetyltransferase, Carbamoyl-Phosphate Synthase (Ammonia), Mutation, Missense, Dominant negative, 610 Medicine & health, Biology, Biochemistry, Genetic analysis, law.invention, 03 medical and health sciences, Protein Domains, law, medicine, Humans, Missense mutation, Urea Cycle Disorders, Inborn, Gene, Ornithine Carbamoyltransferase, Genes, Dominant, Genetic testing, Genetics, chemistry.chemical_classification, 030102 biochemistry & molecular biology, medicine.diagnostic_test, Homozygote, General Medicine, 030104 developmental biology, Enzyme, Amino Acid Substitution, chemistry, 10036 Medical Clinic, Urea cycle, Recombinant DNA, Female

وصف الملف: 1-s2.0-S0300908420303230-main.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1045886e80851369001dd7848f481bf6
https://doi.org/10.1016/j.biochi.2020.12.003

المؤلفون: Martin Friedlander, Robyn H. Guymer, Kamron N. Khan, Roberto Bonelli, Sasha Woods, Jennifer K Trombley, Tjebo F. C. Heeren, Brendan R E Ansell, Catherine A Egan, Melanie Bahlo, Marcus Fruttiger

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Carbamoyl-Phosphate Synthase (Ammonia), Glycine, lcsh:Medicine, Disease, Biology, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Metabolomics, Internal medicine, Diabetes mellitus, medicine, Metabolome, Serine, Humans, lcsh:Science, Phosphoglycerate Dehydrogenase, Aged, Multidisciplinary, Phosphatidylethanolamines, lcsh:R, Case-control study, Genetic Variation, Lipid metabolism, Retinal, Diagnostic markers, Middle Aged, medicine.disease, Retinal diseases, Phosphoric Monoester Hydrolases, Sphingomyelins, Data processing, 030104 developmental biology, Endocrinology, chemistry, Risk factors, Diabetes Mellitus, Type 2, Case-Control Studies, 030221 ophthalmology & optometry, Female, lcsh:Q, Sphingomyelin, Metabolic Networks and Pathways

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb75a9fa895a8ef4af33179b2174de4e
http://link.springer.com/article/10.1038/s41598-020-69164-y

المؤلفون: Mehdi Oualha, Valérie Barbier, Bernadette Chadefaux-Vekemans, Aude Servais, Célina Roda, Guy Touati, Anaïs Brassier, Laurent Dupic, Marie-Thérèse Abi-Warde, Coraline Grisel, Clément Pontoizeau, Anna Kaminska, Vassili Valayannopoulos, Monika Eisermann, Carole Hennequin, Patricia Vignolo-Diard, Chris Ottolenghi, Pascale de Lonlay, Alice Kuster, Florence Habarou, Nathalie Boddaert, Fabrice Lesage, Jean-Baptiste Arnoux

المصدر: Molecular Genetics and Metabolism. 130:110-117

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Urea cycle disorder, Developmental Disabilities, Endocrinology, Diabetes and Metabolism, Carbamoyl-Phosphate Synthase (Ammonia), Ornithine transcarbamylase, Status epilepticus, Argininosuccinate Synthase, 030105 genetics & heredity, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Ammonia, Intellectual Disability, Internal medicine, Infant Mortality, Intellectual disability, Genetics, medicine, Humans, Age of Onset, Urea Cycle Disorders, Inborn, Molecular Biology, Survival rate, Ornithine Carbamoyltransferase, Retrospective Studies, Coma, business.industry, Infant, Newborn, Area under the curve, Infant, Hyperammonemia, medicine.disease, Female, France, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cde5422863052cf235607b31fb5808e
https://doi.org/10.1016/j.ymgme.2020.03.003

المؤلفون: Rocío Gallego-Durán, Javier Ampuero, Helena Pastor-Ramírez, Leticia Álvarez-Amor, Jose Antonio del Campo, Douglas Maya-Miles, Rocío Montero-Vallejo, Antonio Cárdenas-García, Mª Jesús Pareja, Sheila Gato-Zambrano, Raquel Millán, María del Carmen Rico, Amparo Luque-Sierra, Antonio Gil-Gómez, Ángela Rojas, Rocío Muñoz-Hernández, María García-Lozano, Rocío Aller, Raúl J. Andrade, Carmelo García-Monzón, Fausto Andreola, Francisco Martín, Rajiv Jalan, Manuel Romero-Gómez

المساهمون: Junta de Andalucía, Instituto de Salud Carlos III, European Association for the Study of the Liver, Asociación Española para el Estudio del Hígado, Centro de Investigación Biomédica en Red Enfermedades Hepáticas y Digestivas (España)

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Liver Cirrhosis, Mice, Inbred C57BL, Disease Models, Animal, Mice, Multidisciplinary, Liver, Non-alcoholic Fatty Liver Disease, Carbamoyl-Phosphate Synthase (Ammonia), nutritional and metabolic diseases, Animals, Humans, Urea, Diet, High-Fat

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3deb63752103bc70d2e16dbc5df712f
https://hdl.handle.net/10668/19588

المؤلفون: Lan Zhang, Yuling Zou, Yingying Lu, Zhijia Li, Feng Gao

المصدر: Bioorganic Chemistry. 130:106253

مصطلحات موضوعية: Mammals, Carbamyl Phosphate, Carbamoyl-Phosphate Synthase I Deficiency Disease, Ammonia, Organic Chemistry, Drug Discovery, Carbamoyl-Phosphate Synthase (Ammonia), Animals, Humans, Urea, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53a65f820cb1a40af2d2d79d57b157bb
https://doi.org/10.1016/j.bioorg.2022.106253

المؤلفون: Heibel, Sandra Kirsch, Lopez, Giselle Yvette, Panglao, Maria, Sodha, Sonal, Marino-Ramirez, Leonardo, Tuchman, Mendel, Caldovic, Ljubica

المصدر: Pediatrics Faculty Publications

مصطلحات موضوعية: Amino-Acid-N-Acetyltransferase--genetics, Carbamoyl-Phosphate Synthase (Ammonia)--biosynthesis, Carbamoyl-Phosphate Synthase (Ammonia)--genetics, Gene Expression Regulation, Enzymologic, Transcription, Genetics, Pediatrics

وصف الملف: application/pdf

Relation: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/168; https://hsrc.himmelfarb.gwu.edu/cgi/viewcontent.cgi?article=1168&context=smhs_peds_facpubs

الاتاحة: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/168
https://hsrc.himmelfarb.gwu.edu/cgi/viewcontent.cgi?article=1168&context=smhs_peds_facpubs

المؤلفون: Min-Sik Kim, Marcelo Jacobs-Lorena, Sung-Jae Cha, Chan Hyun Na

المصدر: Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Male, Phospholipid scramblase, Phage display, Plasmodium berghei, Science, Plasmodium falciparum, Primary Cell Culture, Carbamoyl-Phosphate Synthase (Ammonia), Protozoan Proteins, General Physics and Astronomy, Plasmodium, General Biochemistry, Genetics and Molecular Biology, Article, Microbiology, Epitopes, Mice, Peptide Library, parasitic diseases, Malaria Vaccines, medicine, Animals, Humans, Malaria, Falciparum, Phospholipid Transfer Proteins, Multidisciplinary, biology, Mimotope, General Chemistry, Hep G2 Cells, biology.organism_classification, Ligand (biochemistry), Recombinant Proteins, Parasite biology, Disease Models, Animal, medicine.anatomical_structure, Liver, Sporozoites, Hepatocyte, Human parasite, Vaccines, Subunit, biology.protein, Hepatocytes, Female, Antibody, Pathogens

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f555ed5fa74853510a7cb1187814424d
http://europepmc.org/articles/PMC8604956

المؤلفون: Karolina Seborova, Alzbeta Kloudova-Spalenkova, Kamila Koucka, Petr Holy, Marie Ehrlichova, Changwei Wang, Iwao Ojima, Iveta Voleska, Petr Daniel, Kamila Balusikova, Michael Jelinek, Jan Kovar, Lukas Rob, Martin Hruda, Marcela Mrhalova, Pavel Soucek, Radka Vaclavikova

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 23, Iss 73, p 73 (2022)
International Journal of Molecular Sciences; Volume 23; Issue 1; Pages: 73

مصطلحات موضوعية: Paclitaxel, QH301-705.5, Cell Survival, CPS1, Carbamoyl-Phosphate Synthase (Ammonia), Down-Regulation, Mice, Nude, ABCC3, Carcinoma, Ovarian Epithelial, ovarian carcinoma, multidrug resistance, taxanes, Stony Brook taxanes, TRIP6, Catalysis, Article, Inorganic Chemistry, Mice, Cell Line, Tumor, Biomarkers, Tumor, Animals, Humans, Physical and Theoretical Chemistry, Biology (General), Molecular Biology, QD1-999, Spectroscopy, Adaptor Proteins, Signal Transducing, Ovarian Neoplasms, Organic Chemistry, General Medicine, LIM Domain Proteins, Middle Aged, Computer Science Applications, Chemistry, Drug Resistance, Neoplasm, Female, Taxoids, Multidrug Resistance-Associated Proteins, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8e93b98a0a46e06a7db864e9b405956
https://pubmed.ncbi.nlm.nih.gov/35008510

المؤلفون: Tomoyuki Kono, Mayumi Giga, Eiichi Nomura, Takafumi Abe, Ruoyi Ishikawa, Takamichi Sugimoto, Keiichi Hara, Hiroyuki Naito, Narumi Ohno, Tohru Yorifuji, Takemori Yamawaki, Taku Tazuma

المصدر: Internal medicine (Tokyo, Japan). 61(9)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Carbamyl Phosphate, Consciousness, Carbamoyl-Phosphate Synthase I Deficiency Disease, Carbamoyl-Phosphate Synthase (Ammonia), Monoallelic Mutation, Atrophy, Organic mental disorders, Internal medicine, Parenchyma, Internal Medicine, Medicine, Humans, Hyperammonemia, Urea Cycle Disorders, Inborn, medicine.diagnostic_test, business.industry, Glossoptosis, Magnetic resonance imaging, General Medicine, medicine.disease, Endocrinology, Urea cycle, Mutation, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fe0108a0ca2068719d6ae2e50ba8f15
https://pubmed.ncbi.nlm.nih.gov/34670888