Results 61 to 70 of about 467 (113)
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia
, 2010 Sulfite oxidase is a mitochondrial enzyme encoded by the SUOX gene and essential for the detoxification of sulfite which results mainly from the catabolism of sulfur-containing amino acids. Decreased activity of this enzyme can either be due to mutations GUNDUZ, Aysegul, Dantas Pinto, Kylvia Giselle, Rodrigues Funayama, Carolina Araujo, PINTO, Kylvia Giselle Dantas, Araujo Rodrigues Funayama, Carolina, Dos Santos, Leticia Yanasse, TASKIRAN, Emine, CAMELO JUNIOR, Jose Simon, TUYSUZ, Beyhan, LAM, Ching-Wan, SANTOS, Leticia Yanasse Dos, REISS, Jochen, FUNAYAMA, Carolina Araujo Rodrigues, TURCATO, Marlene de Fatima, Yanasse Dos Santos, Letícia, Sass, Jörn Oliver, KORKMAZ, Baris, SASS, Joern Oliver, YALCINKAYA, Cengiz, WALTER, Melanie, Fátima Turcato, Marlene de, De Fátima Turcato, Marlene, Saß, Jörn-Oliver, Baris Korkmaz, Beyhan Tuysuz, Yalcinkaya, C, José Simon Camelo Junior, Taskiran, E, Lam, CW, Aysegul Gunduz, Dantas Pinto, KG, Walter, M, Carolina Araujo Rodrigues Funayama, Cengiz Yalcinkaya, Marlene de Fátima Turcato, Jörn Oliver Sass, Gunduz, A, Melanie Walter, de Fátima Turcato, M, Ching-Wan Lam, Kylvia Giselle Dantas Pinto, Jochen Reiss, Sass, JO, Letícia Yanasse Dos Santos, Korkmaz, B, Araujo Rodrigues Funayama, C, Reiss, J, Camelo Junior, JS, Emine Taskiran, Tuysuz, B, Yanasse Dos Santos, L +50 morecore +1 more sourceMOCS, a novel classifier system integrated multimoics analysis refining molecular subtypes and prognosis for skin melanoma
Purpose: The present investigation focuses on Skin Cutaneous Melanoma (SKCM), a melanocytic carcinoma characterized by marked aggression, significant heterogeneity, and a complex etiological background, factors which collectively contribute to the ...Hao Jiang (95017), Tianying Xie (8070635), Zhenxi Li (2093353), Fuchun Liu (13803488), Juelan Ye (18279710), Aimin Jiang (6423755), Jian Jiao (364961), Luoshen Zhang (18279713), Chunbiao Wu (18279716), Peng Luo (488595), Jianru Xiao (1940110) +10 morecore +1 more sourceDifferential abundance of proteins in the urine of Bothrops snakebite victims with distinct outcomes regarding acute kidney injury.
Each protein was represented in the graph as a dot, plotted based on the (-"Log")2(" p-value) on the x-axis and Log2 (Fold change) on the y-axis. Red dots indicate proteins that did not meet the q-value cutoff or the fold change cutoff.Lisele Maria Brasileiro-Martins (18265231), Paulo Costa Carvalho (801996), Priscila Ferreira de Aquino (14216430), Manuela B. Pucca (8803730), Amanda C. Camillo-Andrade (17396642), Lucas Barbosa Oliveira (7476554), Sofia Angiole Cavalcante (18265234), Ana Maria Moura-da-Silva (8947271), Wuelton M. Monteiro (7339718), Jacqueline Sachett (742722), Thaís Pinto Nascimento (18265237), Marlon Dias Mariano Santos (5686631), Alexandre Vilhena Silva-Neto (11414375), Marco Aurelio Sartim (10411324), Juliana de Saldanha da Gama Fischer (18265240), Caroline Coelho Ferreira (18265243), Fan Hui Wen (8124635), Allyson Guimarães Costa (4397830) +17 morecore +1 more sourceMolybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3
gene
, 2017 We describe the clinical presentation and 17 years follow up of a boy, born to consanguineous parents and presenting with intellectual disability (ID), autism, "marfanoid" dysmorphic features, and moderate abnormalities of sulfite metabolism compatible ...Jan G. M. Huijmans, Grazia M. S. Mancini, Monique Williams, Williams, Monique, Rachel Schot, Marinus Duran, Schot, Rachel, van Slegtenhorst, Marjon, René F. M. de Coo, Frans W. Verheijen, Johannis B. C. de Klerk, Marjon van Slegtenhorst, Huijmans, Jan, Verheijen, Frans, Verheijen - Mancini, Grazia, Duran, M, Coo, IFM, Klerk, Hans +17 morecore +1 more sourceETHE1 and MOCS1 deficiencies : disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts [PDF]
, 2019 Ethylmalonic encephalopathy protein 1 (ETHE1) and molybdenum cofactor (MoCo) defciencies are hereditary disorders that afect the catabolism of sulfur-containing amino acids.Seminotti, Bianca, Karunanidhi, Anuradha, Leipnitz, Guilhian, Wipf, Peter, Mohsen, Al-Walid, Grings, Mateus, Palmfeldt, Johan, Gonzalez, Lina Ghaloul, Vockley, Jerry +8 morecore El ácido úrico como biomarcador de defectos genéticos del metabolismo de las purinas. Caracterización fenotípica y molecular de pacientes argentinos
, 2022 Uric acid (UA) is the end product of purine nucleotide degradation. Abnormal levels of UA in serum/urine can guide the detection of some metabolic errors such as deficiencies of hypoxanthine-guanine phosphoribosyltransferase (HPRT-d), xanthine oxidase ...Dodelson de Kremer, R, Becerra, AB, Guelbert, NB, Grosso, CL, Laróvere, LE +4 morecore Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby
, 2015 Background: Molybdenum cofactor deficiency (MOCD) is a severe autosomal recessive neonatal metabolic disease that causes seizures and death or severe brain damage.Allgood, Catherine (R17910), Edwards, Matthew (R16367), Chin, Raymond (R17897), Schwarz, Guenter, Whitehall, John (R15925), Santamaria, Jose A., Roeper, Juliane, Wong, Flora +7 morecore +1 more source
