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.
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Multimodal MR imaging in acute exacerbation of methylmalonic acidemia. [PDF]
Radiol Case Rep, 2023 Saito R +5 more
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192. Neutralizing Antibodies Against AAV Capsids in Patients with Mut Methylmalonic Acidemia (MMA) [PDF]
, 2014 openalex +1 more source
Methylmalonic acidemia with homocystinuria in acute myeloid leukemia: a case report. [PDF]
BMC PediatrCheng Y, Zhang A.
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Management of methylmalonic acidemia (MMA) with N-carbamylglutamate: A case report from Italy. [PDF]
Mol Genet Genomic Med, 2023 Tubili F +3 more
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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 +5 more
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Fatal Case Report of Methylmalonic Acidemia: Reflections on Organic Acidemias in Colombia [PDF]
Ana María Zarante Bahamón +4 more
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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 DisLuo Q, Liu C, Lin L, Liu X, Chen H.
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Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia [PDF]
, 2016 Fatemeh Keyfi +5 more
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Mitochondrial Distress in Methylmalonic Acidemia: Novel Pathogenic Insights and Therapeutic Perspectives. [PDF]
Cells, 2022 Keller SA, Luciani A.
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