Showing results (31-40 of 35) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 35 results.
Brain & Development|October 2, 2009
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalaciaJörn Oliver Sass, Aysegul Gunduz, Carolina Araujo Rodrigues Funayama, et al.
Biochimie|February 17, 2021
Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic diseaseSarah C Grünert, William Foster, Anke Schumann, et al.
Molecular Genetics & Genomic Medicine|January 21, 2018
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patientsSoraia Poloni, Fernanda Sperb-Ludwig, Taciane Borsatto, et al.
Molecular Genetics and Metabolism|August 2, 2016
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 familiesJörn Oliver Sass, Corinne Gemperle-Britschgi, Maja Tarailo-Graovac, et al.
Orphanet Journal of Rare Diseases|January 12, 2013
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patientsSarah C Grünert, Stephanie Müllerleile, Linda De Silva, et al.
Pageof 4