Results 181 to 190 of about 221,538 (343)

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

Aspartate aminotransferase and model for end-stage liver disease reliably predict mortality in drug-induced liver injury. [PDF]

Sci Rep
Weber S, Mircheva I, Balakumar R, Allgeier J, Saka D, Donga N, Lange CM, Gerbes AL.   +7 more
europepmc   +1 more source

Aspartate aminotransferase - risk marker for type-2 diabetes mellitus or red herring? [PDF]

, 2014
Abbasi, Ahn, André, Begg, Doi, Egger, Fraser, Giannini, Goessling, Hanley, Higgins, Jiamjarasrangsi, Kunutsor, Monami, Nakanishi, Nannipieri, Rahmioglu, Robins, Sato, Schneider, Tonelli, Whitfield, Whitfield, Wroblewski, Wroblewski   +24 more
core   +2 more sources

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Tirzepatide-Induced Liver Injury: A Rare Complication. [PDF]

AACE Endocrinol Diabetes
Spaeth LD, Jordan KM, Barlow MP, Cottrell DA.   +3 more
europepmc   +1 more source

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

Carbonated Herbal Alcoholic Beverage-Induced Hepatotoxicity in Wistar rats; Role of Aqueous Extracts of Stigma maydis

Sokoto Journal of Medical Laboratory Science
People consume beverages that contain alcohol for various reasons, ranging from therapeutic to the well acclaimed 'depression killer', without little or no concern about their adverse effects.
Agbortai, A., Eze, G.I., Olukayode, S.B.*, Innih, S.O.
doaj  

Exercise-Induced Rhabdomyolysis With Supplements (Creatine, β-Alanine, Citrulline Malate, and β-Ecdysterone). [PDF]

Cureus
Chowaniec P, Miedziaszczyk M, Kucia M, Konieczny M, Idasiak-Piechocka I.   +4 more
europepmc   +1 more source

The cytosolic and mitochondrial aspartate aminotransferases from pig heart. A comparison of their primary structures, predicted secondary structures and some physical properties.

European Journal of Biochemistry, 1980
D. Barra, F. Bossa, S. Doonan, H. Fahmy, G. Hughes, F. Martini, R. Petruzzelli, B. Wittmann-Liebold   +7 more
semanticscholar   +1 more source

Serum Aspartate Aminotransferase Measurement [PDF]

, 2020
openaire   +1 more source