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D-glyceric aciduria.
Dimer NW, Schuck PF, Streck EL, Ferreira GC. Dimer NW, et al. An Acad Bras Cienc. 2015 Aug;87(2 Suppl):1409-14. doi: 10.1590/0001-3765201520150021. Epub 2015 Aug 4. An Acad Bras Cienc. 2015. PMID: 26247153 Free article. Review.
Inherited metabolic diseases are a heterogeneous group of diseases caused by a punctual defect in cell metabolism, resulting in the accumulation of toxic intermediate metabolites or in the lack of important biomolecules for adequate cell functioning. D-glyceric a
Inherited metabolic diseases are a heterogeneous group of diseases caused by a punctual defect in cell metabolism, resulting in the accumula …
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review.
Zehavi Y, Mandel H, Eran A, Ravid S, Abu Rashid M, Jansen EEW, Wamelink MMC, Saada A, Shaag A, Elpeleg O, Spiegel R. Zehavi Y, et al. Metab Brain Dis. 2019 Apr;34(2):557-563. doi: 10.1007/s11011-019-0384-x. Epub 2019 Jan 12. Metab Brain Dis. 2019. PMID: 30637540 Review.
Deficiency of DGK leads to accumulation of D-glycerate in various tissues and its massive excretion in urine. D-glyceric aciduria (DGA) is an autosomal recessive metabolic disorder caused by mutations in the GLYCTK gene. ...
Deficiency of DGK leads to accumulation of D-glycerate in various tissues and its massive excretion in urine. D-glyceric ac
Biochemical contribution to diagnosis and study of a new case of D-glyceric acidemia/aciduria.
Fontaine M, Porchet N, Largilliere C, Marrakchi S, Lhermitte M, Aubert JP, Degand P. Fontaine M, et al. Clin Chem. 1989 Oct;35(10):2148-51. Clin Chem. 1989. PMID: 2551543 Review.
The D(+) configuration was demonstrated by a polarimetric method and by enzymatic stereospecificity of D-glycerate dehydrogenase (EC 1.1.1.29). We biochemically investigated this fifth reported case of D-glyceric acidemia. In our patient, loading tests with L-serine …
The D(+) configuration was demonstrated by a polarimetric method and by enzymatic stereospecificity of D-glycerate dehydrogenase (EC 1.1.1.2 …
Inborn errors of fructose metabolism.
Hommes FA. Hommes FA. Am J Clin Nutr. 1993 Nov;58(5 Suppl):788S-795S. doi: 10.1093/ajcn/58.5.788S. Am J Clin Nutr. 1993. PMID: 8213611 Review.
Presently, six conditions have been recognized: fructose malabsorption, fructokinase deficiency, aldolase A and aldolase B deficiency, fructose-1,6-diphosphatase deficiency and D-glyceric aciduria. Clinical presentations of these conditions, enzymatic and/or …
Presently, six conditions have been recognized: fructose malabsorption, fructokinase deficiency, aldolase A and aldolase B deficiency, fruct …
[D-glycerate kinase D-glyceric aciduria].
Nakamura N, Kamoda T. Nakamura N, et al. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):92-4. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9589998 Review. Japanese. No abstract available.