Uncommonly Missed Diagnosis of Methylmalonic Acidemia (MMA) in Adults and Usefulness of Testing for MMA in Cases of Seizures/Neuropathy/Weakness/Ataxia. [PDF]
Cureus, 2023 Cocuzzo B, Kalirao S.
europepmc +1 more source
192. Neutralizing Antibodies Against AAV Capsids in Patients with Mut Methylmalonic Acidemia (MMA) [PDF]
, 2014 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 +5 more
europepmc +1 more source
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
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 DisLuo Q, Liu C, Lin L, Liu X, Chen H.
europepmc +1 more source
Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia [PDF]
, 2014 Wei Gu +6 more
openalex +1 more source
Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants
, 2015 Ashwini Kumar Malhotra +3 more
openalex +1 more source
Affective disorder as the first manifestation of methylmalonic acidemia: a case report.
, 2013 Fatemeh Sheikhmoonesi +3 more
openalex +1 more source