Results 71 to 80 of about 17,427 (173)

Bizarre behavior and decreased level of consciousness in an adult patient

, 2019
This case report presents an adult patient with decreased levels of consciousness and bizarre behavior. A silent delirium was first suspected however, symptoms did not improve and further examination revealed elevated ammonia levels.
van Son, J, Hollak, C E M, Rietbroek, R C, Vaz, F M   +3 more
core  

Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management

Biochemical phenotyping has been the milestone for diagnosing and managing patients affected by inborn errors of intermediary metabolism (IEiM); however, identifying the genotype responsible for these monogenic disorders greatly contributes to achieving ...
Seung-Woo Ryu, Isabel Ibarra-González, Liliana Fernández-Hernández, Bernardette Estandía-Ortega, Lizbeth López-Mejía, Ariadna González-del Angel, Marcela Vela-Amieva, Leticia Belmont-Martínez, Rosa Itzel Carrillo-Nieto, Miguel Angel Alcántara-Ortigoza, Hane Lee, Cynthia Fernández-Lainez, Sara Guillén-López, Miriam Erandi Reyna-Fabián   +13 more
core   +1 more source

Initial management of life-threatening acquired and inherited metabolic disorders in children [PDF]

, 2016
Nasljedne metaboličke bolesti obuhvaćaju grupu poremećaja u kojima mutacija jednog gena uzrokuje značajan blok u metaboličkom putu, koji rezultira nakupljanjem supstrata ili deficijenciju produkta u putu iza nastalog bloka. Metaboličke bolesti se tipično
Modrić, Marija
core  

NMR-Based metabolomic studies of breast cancer [PDF]

, 2013
Breast cancer is the most frequently diagnosed form of cancer and leading cause of cancer death in females. Current screening techniques, such as mammography, are inadequate. Screening reduces the number of deaths caused by breast cancer but also results
Yabsley, Warren
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From Sugar To Acetate - The Origins Of Acetyl-Coa Dictate Its Use In Cells And In Mice

, 2019
Changes in environmental factors, diet, and genetics all influence metabolism, which is frequently dysregulated at the cellular and organismal levels in diseases such as metabolic syndrome, cancer, and inborn errors of metabolism.
Zhao, Steven
core  

Erros inatos do metabolismo dos hidratos de carbono [PDF]

, 2014
Projeto de Pós-Graduação/Dissertação apresentado à Universidade Fernando Pessoa como parte dos requisitos para obtenção do grau de Mestre em Ciências FarmacêuticasOs erros inatos do metabolismo referem-se a um grupo de doenças genéticas caracterizadas ...
Cardoso, Manuela Sofia da Silva
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Health-Related Coping Behaviors Among Parents of Children with Inborn Errors of Metabolism: A Survey by Dietary Therapy, Child Age, and Diagnostic Category. [PDF]

Int J Neonatal Screen
Matsumoto Y, Kushihashi Y, Suwa A, Tajima G.   +3 more
europepmc   +1 more source

Association of maternal biliary disease with hepatopancreatobiliary morbidity in offspring. [PDF]

J Pediatr Gastroenterol Nutr
Auger N, Magri A, Kang-Auger S, Jutras G, Healy-Profitós J, Bilodeau-Bertrand M, Côté-Corriveau G.   +6 more
europepmc   +1 more source

Towards Next-Generation Sequencing as a First-Tier Diagnostic Test for Fructose-1,6-Bisphosphatase Deficiency. [PDF]

Metabolites
Yazbeck N, Barhoumi A, Karam PE.
europepmc   +1 more source

Body composition in adults with phenylketonuria: A 5 years follow-up study. [PDF]

Mol Genet Metab Rep
Franceschetto BF, Moutapam-Ngamby-Adriaansen Y, Tressel N, de Luca A, Schiff M, Poloni S, Schwartz IVD, Maillot F.   +7 more
europepmc   +1 more source