Results 31 to 40 of about 12,610 (204)

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

Eur J Med Res
Methylmalonic acidemia (MMA) is one of the most common hereditary organic acid metabolism disorders that endangers the lives and health of infants and children.
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   +2 more sources

MIS-C, inherited metabolic diseases and methylmalonic acidemia: a case report and review of the literature. [PDF]

Ital J Pediatr
Maggio MC, Castana C, Caserta M, Di Fiore A, Siciliano V, Corsello G.   +5 more
europepmc   +5 more sources

Adult-onset combined methylmalonic acidemia and hyperhomocysteinemia, cblC type with aortic dissection and acute kidney injury: a case report. [PDF]

BMC Nephrol
Combined methylmalonic acidemia (MMA) and hyperhomocysteinemia, cobalamin C (cblC) type, also named cblC deficiency is a rare autosomal recessive genetic metabolic disease.
Hao Q, Jiang B, Zhao Y, Hu Z.
europepmc   +2 more sources

Reversing Acute Cardiomyopathy With Coenzyme Q10 Supplementation in Cobalamin B Disease: A Case Report and Literature Review

JIMD Reports
Methylmalonic acidemia (MMA) is a rare metabolic disorder with various subtypes, including Cobalamin B (cblB) disease. While cardiac complications are well‐documented in propionic acidemia, their occurrence in MMA is less understood. Here, we report a 12‐
Dalia Said, Aisha Al Shamsi
doaj   +2 more sources

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   +2 more sources

Methylmalonic acidemia without homocystinuria [PDF]

, 2020
INSERM
openaire   +2 more sources

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   +2 more sources

Methylmalonic acidemia with emergency hypertension

Nefrología (English Edition), 2016
Bahareh Yaghmaei, Parastoo Rostami, Farnaz Najmi Varzaneh, Behdad Gharib, Behnaz Bazargani, Nima Rezaei   +5 more
doaj   +6 more sources

Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway

International Journal of Neonatal Screening, 2023
Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) analyses of total homocysteine ...
Trine Tangeraas, Ulf W. Ljungblad, Elma Lutvica, Erle Kristensen, Alex D. Rowe, Anne-Lise Bjørke-Monsen, Terje Rootwelt-Revheim, Ingjerd Sæves, Rolf D. Pettersen   +8 more
doaj   +1 more source

Dandy-Walker malformation in methylmalonic acidemia: a rare case report

BMC Pediatrics, 2021
Background Methylmalonic acidemia is an organic acid metabolism disorder that usually has nonspecific clinical manifestations. Case presentation A 3-month-old female infant was admitted to the hospital for developmental retardation.
Jingwei Liu, Zhuohang Liu, Haibo Yan, Yumei Li   +3 more
doaj   +1 more source