Results 121 to 130 of about 3,232 (144)

Adenovirus-Mediated Gene Delivery Rescues a Neonatal Lethal Murine Model of mut ⁰ Methylmalonic Acidemia

, 2007
Randy J. Chandler, Charles P. Venditti
openalex   +1 more source

Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review. [PDF]

Genes (Basel)
Michieletto P, Baldo F, Madonia M, Zupin L, Pensiero S, Bonati MT.   +5 more
europepmc   +1 more source

Comment on: “An Early Cost-Utility Model of mRNA-Based Therapies for the Treatment of Methylmalonic and Propionic Acidemia in the United Kingdom” [PDF]

Sue Perera, Geetanjoli Banerjee, Vanja Sikirica, Eliza Kruger, Emily Combe, Caroline Barwood, Sofie Czarnota-Bojarski, Stephanie Grünewald, Sufin Yap   +8 more
openalex   +1 more source

Caregiver's experiences with a mobile-based educational program and its impact on dietary treatment compliance of children with methylmalonic acidemia: an online survey. [PDF]

Orphanet J Rare Dis
Luo Q, Liu C, Lin L, Liu X, Chen H.
europepmc   +1 more source

Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes. [PDF]

Pediatr Res
Hao L, Ling S, Ding S, Qiu W, Zhang H, Zhang K, Chen T, Gu X, Liang L, Han L.   +9 more
europepmc   +1 more source

Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles. [PDF]

Metabolites
Sidorina A, Catesini G, Sacchetti E, Rizzo C, Dionisi-Vici C.   +4 more
europepmc   +1 more source

Associations between elevated uric acid and brain imaging abnormalities in pediatric patients with methylmalonic acidemia under 5 years of age. [PDF]

Sci Rep
Du M, Wu S, Chen Y, Yuan S, Dong S, Wang H, Wei H, Zhu C.   +7 more
europepmc   +1 more source

From Pancytopenia to Hyperleukocytosis, an Unexpected Presentation of Immune Reconstitution Inflammatory Syndrome in an Infant with Methylmalonic Acidemia. [PDF]

Children (Basel)
Sassine S, Remy A, Demaret T, Proulx F, Autmizguine J, Kakkar F, Tran TH, Laverdière C, Cunan ET, Maftei C, Mitchell G, Decaluwe H, Hindié J.   +12 more
europepmc   +1 more source

Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations. [PDF]

Eur J Med Res
Yin Z, Zhang C, Dong R, Zhang X, Song Y, Hao S, Gai Z, Zhou B, Hui L, Wang S, Xue H, Cao Z, Liu Y, Ma X.   +13 more
europepmc   +1 more source