Results 111 to 120 of about 3,232 (144)

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

Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy. [PDF]

Mol Genet Metab Rep
Guertin A, Khanna RK, Tardieu M, François M, Blasco H, de Bretagne IB, Benoist JF, Bigot A, Tressel N, Maillot F, Labarthe F.   +10 more
europepmc   +1 more source

Methylmalonic Acidemia Masquerading as Rett Syndrome: An Atypical "Neurodegenerative" Variant? [PDF]

Indian J Psychol Med, 2023
Jayaram R, Suresh A, Rastogi M, Goyal N.
europepmc   +1 more source

Long‐Term Outcomes of Living Donor Liver Transplantation for Methylmalonic Acidemia [PDF]

Robert C. Minnee, Seisuke Sakamoto, Akinari Fukuda, Hajime Uchida, Kazuya Hirukawa, Masaki Honda, Shinya Okumura, Takashi Ito, Tonguç Utku Yılmaz, Yitian Fang, Toru Ikegami, Kwang-Woong Lee, Mureo Kasahara   +12 more
openalex   +1 more source

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia. [PDF]

J Inherit Metab Dis, 2023
Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP.   +15 more
europepmc   +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

AB056. Biochemical and molecular investigation of patients with methylmalonic acidemia in Thailand

, 2017
Phannee Sawangareetrakul, Voraratt Champattanachai, James R. Ketudat Cairns   +2 more
openalex   +1 more source

A case report of combined methylmalonic acidemia and homocysteinemia presented with cerebral sinus thrombosis and fluctuating cognitive impairment. [PDF]

Medicine (Baltimore)
Wang J, Liu L, Wang H.
europepmc   +1 more source

Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia. [PDF]

Orphanet J Rare Dis
Ling IC, Niu DM, Yang CF, Lee CY, Liang SB, Chen YJ.   +5 more
europepmc   +1 more source

Safety and efficacy of liver transplantation for methylmalonic acidemia: A systematic review and meta-analysis

, 2020
Yizhou Jiang, Guang‐Peng Zhou, Shanshan Wu, Yuanyuan Kong, Zhi‐Jun Zhu, Li‐Ying Sun   +5 more
openalex   +1 more source