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24
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Aciduria
- ... About This Health Condition C2orf25 cblD CL25022 methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria methylmalonic aciduria and homocystinuria type D protein, mitochondrial methylmalonic aciduria ...
- ... acidemia. More About This Health Condition cblA methylmalonic aciduria (cobalamin deficiency) cblA type methylmalonic aciduria (cobalamin deficiency) type A methylmalonic aciduria type A ...
- ... ATR cblB CFAP23 cob(I)alamin adenosyltransferase methylmalonic aciduria (cobalamin deficiency) cblB type methylmalonic aciduria (cobalamin deficiency) type B MMAB_HUMAN Tests of ...
- ... More About This Health Condition cblC DKFZP564I122 methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria methylmalonic aciduria ...
- ... alpha polypeptide electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II) electron-transferring-flavoprotein, alpha polypeptide (glutaric aciduria ...
- ... mutations that cause a type of 2-hydroxyglutaric aciduria known as D-2-hydroxyglutaric aciduria (D-2-HGA) type I. This condition has ... Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. Hum Mutat. 2010 Mar;31(3):279-83. ...
- ... gene that cause a type of 2-hydroxyglutaric aciduria known as L-2-hydroxyglutaric aciduria (L-2-HGA). This condition has a variety ... MS, Jakobs C. Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis. 2012 Jul;35(4): ...
- ... ASL gene have been found to cause argininosuccinic aciduria. In some cases, a short sequence of DNA ... problems and other signs and symptoms of argininosuccinic aciduria. It is unclear how a lack of arginine ...
- ... found to cause a type of 2-hydroxyglutaric aciduria known as D-2-hydroxyglutaric aciduria (D-2-HGA) type II. This condition has ... MS, Jakobs C. Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis. 2012 Jul;35(4): ...
- ... of large amounts of these acids in urine (aciduria). Researchers speculate that an accumulation of these acids ... Duran M, Lehnert W, Wanders RJ. 3-Methylglutaconic aciduria type I is caused by mutations in AUH. ...