Results 81 to 90 of about 12,176 (132)

Retrospective analysis of diagnosis and treatment in 9 cases of childhood-onset methylmalonic acidemia in China. [PDF]

Front Neurol
Fan C, Xu L, Gan S, Wu L, Yang H, Ning Z.   +5 more
europepmc   +1 more source

Clinical and molecular spectrum of patients with methylmalonic acidemia and homocysteinemia complicated by cardiovascular manifestations. [PDF]

Orphanet J Rare Dis
Zhao W, Zhang Y, Pi Y, Li Y, Zhang H.
europepmc   +1 more source

Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia [PDF]

, 2006
Osamu Sakamoto, Toshihiro Ohura, Yoichi Matsubara, Masaki Takayanagi, Shigeru Tsuchiya   +4 more
openalex   +1 more source

Continuous renal replacement therapy in a neonate with methylmalonic acidemia and severe hyperammonemia: A case report. [PDF]

Medicine (Baltimore)
Lin B, Huang Y, Yu Y, Xiong X, Yang C.
europepmc   +1 more source

Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type

, 2012
Katta M. Girisha, Shrikiran Aroor, Osamu Sakamoto, PuthiyaMundyat Gopinath, Kapaettu Satyamoorthy, AbdulMueed Bidchol   +5 more
openalex   +2 more sources

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias [PDF]

, 2015
Irini Manoli, Jennifer Myles, Jennifer L. Sloan, Oleg A. Shchelochkov, Charles P. Venditti   +4 more
openalex   +1 more source

404. Long-Term Rescue of a Lethal Murine Model of Methylmalonic Acidemia Using AAV 8 Mediated Gene Therapy [PDF]

, 2008

openalex   +1 more source

Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature. [PDF]

BMC Pediatr
Yamashita F, Akamine S, Chong PF, Maeda K, Kawakami S, Lee S, Ishimura M, Murayama K, Sakai Y, Kira R.   +9 more
europepmc   +1 more source

Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes

, 2020
Maria Sol Collado, Allison J. Armstrong, Matthew W. Olson, Stephen A. Hoang, Nathan Day, Marshall Summar, Kimberly A. Chapman, John E. Reardon, Robert A. Figler, Brian R. Wamhoff   +9 more
openalex   +1 more source

48. Treatment of Methylmalonic Acidemia by Promoterless Gene-Targeting Using Adeno-Associated Viral (AAV) Mediated Homologous Recombination [PDF]

, 2016
Randy J. Chandler, Adi Barzel, Mark A. Kay, Charles P. Venditti   +3 more
openalex   +1 more source