4 documents found, page 1 of 1
Clinical, biochemical and molecular findings of 24 Brazilian patients with glut...
Sitta, Angela; Guerreiro, Gilian; de Moura Coelho, Daniella; da Rocha, Vitoria Volfart; dos Reis, Bianca Gomes; Sousa, Carmen; Vilarinho, LauraGlutaric aciduria type 1 (GA-1) is a rare but treatable inherited disease caused by deficiency of glutaryl-CoA dehydrogenase activity due to GCDH gene mutations. In this study, we report 24 symptomatic GA-1 Brazilian patients, and present their clinical, biochemical, and molecular findings. Patients were diagnosed by high levels of glutaric and/or 3-hydroxyglutaric and glutarylcarnitine. Diagnosis was confirmed...
Alterations in lipid profile and enzymes paraoxonase and butyrylcholinesterase ...
Vanzin, Camila; Nogueira, Célia; Vilarinho, Laura; Wajner, Moacir; Wyse, Angela; Vargas, CarmenHomocystinuria is an inborn error of metabolism most frequently caused by cystathionine β-synthase (CBS) deficiency. Homocysteine (Hcy), methionine (Met) and other metabolites of Hcy accumulate in the body of affected patients, leading to clinical manifestations such as dislocation of the optic lents, osteoporosis, mental retardation, and thromboembolism. Despite the fact that thromboembolism represent the majo...
Detection of metabolic disorders in high-risk patients: a pilot study in Salvad...
Pereira, Maria Betânia; Conceição, Gildásio Carvalho da; Coelho, Janice C.; Wajner, Moacir; Giugliani, Roberto; Pereira, Maria Betâniap.209-212; Submitted by Texeira Ana (atanateixeira@gmail.com) on 2012-05-10T19:31:24Z No. of bitstreams: 1 Pereira, Maria Betânia.pdf: 416259 bytes, checksum: 523fb4617fca70b4620e3f4e60433efc (MD5); Made available in DSpace on 2012-05-10T19:31:24Z (GMT). No. of bitstreams: 1 Pereira, Maria Betânia.pdf: 416259 bytes, checksum: 523fb4617fca70b4620e3f4e60433efc (MD5) Previous issue date: 1997; The purpose of this ...
cis-4-decenoic acid provokes mitochondrial bioenergetic dysfunction in rat brain
Wajner, Moacir