Results 151 to 160 of about 7,812 (191)

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

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

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

Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN. [PDF]

Kidney Int Rep
Servais A, Zacchia M, Dehoux L, Shroff R, Brassier A, Taurisano R, Kölker S, Oh J, Ariceta G, Stojanovic J, Hörster F, Strologo D, Spada M, Schiff M, Dionisi-Vici C.   +14 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

Methylmalonic Acidemia

, 2017
Isolated methylmalonic acidemia (MMA) refers to a group of inborn errors of organic acid metabolism caused by impaired conversion of methylmalonyl-CoA to succinyl-CoA. Individuals with MMA experience both acute and chronic neurological complications. The pathophysiology likely reflects impaired energy metabolism in the mitochondria leading to neuronal ...
Siddharth Srivastava, Jeffrey Chinsky
openaire   +2 more sources

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Cardiac Disease in Methylmalonic Acidemia

Journal of Pediatrics, 2011
Methylmalonic acidemia (MMA) is a heterogeneous disorder, with onset from infancy to adulthood and varying degrees of organ involvement and severity. Cardiac disease is a known lethal complication of other organic acidemias, but has not been associated with MMA. We identified 3 patients with MMA and cardiac disease.
Edwin Kirk, Carlos Prada, Fatma Al Jasmi   +2 more
exaly   +3 more sources

Methylmalonic acidemia and kidney transplantation

Pediatric Nephrology, 2013
[No abstract available]
Riccardo Lubrano, Maria Belén Pérez Gonzalez, Marco Elli   +2 more
exaly   +4 more sources

Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations

Molecular Genetics and Metabolism, 2012
Dursun, Ali/0000-0003-1104-9902; Ozgul, Riza Koksal/0000-0002-0283-635XMethylmalonic acidemia is an autosomal recessive metabolic disorder affecting the propionate oxidation pathway in the catabolism of several amino acids, odd-chain fatty acids, and ...
Didem Aliefendioğlu, H Serap Sivri, Halil Dundar   +2 more
exaly   +2 more sources

Cutaneous manifestations of methylmalonic acidemia

Archives of Dermatological Research, 1990
R J, Koopman, R, Happle
exaly   +3 more sources