Results 151 to 160 of about 8,189 (189)

Methylmalonic aciduria in pregnancy: A case report

American Journal of Obstetrics and Gynecology, 1995
Methylmalonic aciduria is a rare metabolic disorder of amino acid metabolism that is characterized by accumulation of large amounts of methylmalonic acid in the blood and urine. To our knowledge this is the first case report of a patient with methylmalonic aciduria who carried a pregnancy to term; the outcome was favorable despite high levels of ...
E, Diss, J, Iams, N, Reed, D S, Roe, C, Roe   +4 more
openaire   +2 more sources

Seven novel mutations inmut methylmalonic aciduria

Human Mutation, 1998
Methylmalonic aciduria (MMA) is an autosomal recessive inborn error of metabolism that results from functional defects in methylmalonyl CoA mutase (MCM), a nuclear-encoded, mitochondrial enzyme that uses the vitamin B12 derivative, adenosylcobalamin (AdoCbl) as a cofactor.
C E, Adjalla, A R, Hosack, B M, Gilfix, E, Lamothe, S, Sun, A, Chan, S, Evans, N V, Matiaszuk, D S, Rosenblatt   +8 more
openaire   +2 more sources

Erythroblastopenia Associated with Methylmalonic Aciduria

Biology of the Neonate, 2009
Various cytopenias, including neutropenia, thrombocytopenia and pancytopenia, have been reported in association with inborn errors of branched amino acid metabolism. We report here on a case of anemia associated with erythroblastopenia – that is less frequent in this context – in a neonate with methylmalonic aciduria.
F. Corazza, D. Blum, A. Clercx, Y. Mardens, P. Fondu   +4 more
openaire   +1 more source

Combined methylmalonic aciduria and homocystinuria

Journal of Pediatric Neurology, 2015
Combined methylmalonic aciduria and homocystinuria is a very rare disease caused by a defect in the synthesis of two cofactors in cobalamin dependent reactions, i.e. adenosylcobalamin and methylcobalamin, active forms of vitamin B12. Early onset disease consists of neurological, hematological and gastrointestinal abnormalities seen in the first year of
Onal, Hasan, Alhaj, Safa, Ozdil, Mine, Ozyilmaz, Isa, Altun, Gurkan, Aydin, Ahmet   +5 more
openaire   +2 more sources

Homocystinuria with methylmalonic aciduria: Two cases in a sibship

Biochemical Medicine, 1970
Abstract The clinical and biochemical findings in two brothers each of whom has homocystinuria and methylmalonic aciduria are described. Studies of fibroblasts grown from skin biopsies of these patients demonstrated that their homocystinuria is due to decreased activity of N5-methyltetra-hydrofolate methyltransferase, rather than due to decreased ...
S I, Goodman, P G, Moe, K B, Hammond, S H, Mudd, B W, Uhlendorf   +4 more
openaire   +2 more sources

Methylmalonic Aciduria in the Newborn

New England Journal of Medicine, 1976
V E, Shih, J T, Coulombe, M, Maties, H L, Levy   +3 more
openaire   +2 more sources

Methylmalonic aciduria presenting in an adult

Journal of Inherited Metabolic Disease, 1991
M, Gerhardt, E M, Burke, I K, Brandt, D W, Crabb   +3 more
openaire   +2 more sources

Methylmalonic aciduria with pathological fracture

Journal of Inherited Metabolic Disease, 1993
F, Inoue, N, Terada, S, Nukina, N, Kodo, A, Kinugasa, T, Sawada   +5 more
openaire   +2 more sources

Methylmalonic acidemia (or aciduria)

Lee CA: Methylmalonic acidemia (or aciduria), 2022
openaire   +1 more source

The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China

Taiwanese Journal of Obstetrics and Gynecology, 2022
Xiangdong Kong, Shuang Hu
exaly