Hereditary orotic aciduria identified by newborn screening.
Staretz-Chacham O, Damseh NS, Daas S, Abu Salah N, Anikster Y, Barel O, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Hershkovitz E, Josefsberg S, Landau Y, Lerman-Sagie T, Mandel H, Rock R, Rostami N, Saraf-Levy T, Shaul Lotan N, Spiegel R, Tal G, Ulanovsky I, Wilnai Y, Korman SH, Almashanu S.
Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023.
PMID:36999056
An expanding spectrum of complications in isolated methylmalonic aciduria.
Forny P, Grunewald S.
J Mother Child. 2020 Nov 10;24(2):9-13. doi: 10.34763/jmotherandchild.20202402si.2014.000003.
PMID:33554499
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.
Nardecchia F, Caciotti A, Giovanniello T, De Leo S, Ferri L, Galosi S, Santagata S, Torres B, Bernardini L, Carducci C, Morrone A, Leuzzi V.
Int J Mol Sci. 2022 Apr 16;23(8):4422. doi: 10.3390/ijms23084422.