نتایج جستجو برای: 4 hydroxybutyric aciduria
تعداد نتایج: 1305100 فیلتر نتایج به سال:
Therapeutic intervention for human succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria) has been limited to vigabatrin (VGB). Pharmacologically, VGB should be highly effective due to 4-aminobutyrate-transaminase (GABA-transaminase) inhibition, lowering succinic semialdehyde and, thereby, gamma-hydroxybutyric acid (GHB) levels. Unfortunately, clinical efficacy h...
Enzymes of the aldehyde dehydrogenase (ALDH) superfamily catalyze the nicotinamide adenine dinucleotide-dependent oxidation of aldehydes to carboxylic acids. ALDHs are important in detoxification of aldehydes, amino acid metabolism, embryogenesis and development, neurotransmission, oxidative stress, and cancer. Mutations in genes encoding ALDHs cause metabolic disorders, including alcohol flush...
OBJECTIVES To further define the clinical spectrum of the disease for pediatric and metabolic specialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde dehydrogenase (SSADH) deficiency in the differential diagnosis of patients with (idiopathic) mental retardation and emphasize the need for accurate, quantitative organic acid analysis in s...
Specifically 14C-labeled palmitic acids were perfused through livers and incubated with slices of kidneys from rats in diabetic ketosis. The distribution of 14C in the hydroxybutyric acid formed was determined. In liver, the ratio of incorporation of 14C from [13-14C]palmitic acid into carbon 1 to carbon 3 of the hydroxybutyric acid was the same as the ratio in carbon 2 to carbon 4 from [6-14C]...
Nefrologia 2014;34(4):xx 15 ed presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type. Prenat Diagn 2009;29:266-70. 3. Rogé Canales M, Rodrigo Gonzalo de Liria C, Prats Viñas LJ, Vaquero Pérez M, Ribes Rubió A, Rodés Monegal M, et al. Síndrome hemolítico-urémico neonatal asociado a aciduria metilmalónica y homocistinuria. An Esp Pediatr 1996;45:97-8. 4. Menni F, Testa S, Guez...
Endogenous production complicates the interpretation when gamma-hydroxybutyric acid (GHB) is measured in urine for forensic purposes. We performed a cross-sectional study to test the hypothesis that pregnant women have higher levels of urinary GHB than non-pregnant controls, and thus increased risk of false-positive GHB tests. GHB, gamma-butyrolactone (GBL) and beta-hydroxybutyric acid (BHB) co...
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