109 related articles for article (PubMed ID: 31837836)
1. d-Glycerate kinase deficiency in a neuropediatric patient.
Sass JO; Behringer S; Fernando M; Cesaroni E; Cursio I; Volpini A; Till C
Brain Dev; 2020 Feb; 42(2):226-230. PubMed ID: 31837836
[TBL] [Abstract][Full Text] [Related]
2. Further evidence that d-glycerate kinase (GK) deficiency is a benign disorder.
Kalim A; Fitzsimons P; Till C; Fernando M; Mayne P; Sass JO; Crushell E
Brain Dev; 2017 Jun; 39(6):536-538. PubMed ID: 28190537
[TBL] [Abstract][Full Text] [Related]
3. D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK).
Sass JO; Fischer K; Wang R; Christensen E; Scholl-Bürgi S; Chang R; Kapelari K; Walter M
Hum Mutat; 2010 Dec; 31(12):1280-5. PubMed ID: 20949620
[TBL] [Abstract][Full Text] [Related]
4. 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
Metab Brain Dis; 2019 Apr; 34(2):557-563. PubMed ID: 30637540
[TBL] [Abstract][Full Text] [Related]
5. d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.
Swanson MA; Garcia SM; Spector E; Kronquist K; Creadon-Swindell G; Walter M; Christensen E; Van Hove JLK; Sass JO
Mol Genet Metab; 2017 Jun; 121(2):80-82. PubMed ID: 28462797
[TBL] [Abstract][Full Text] [Related]
6. D(+)-glyceric aciduria: etiology and clinical consequences.
Bonham JR; Stephenson TJ; Carpenter KH; Rattenbury JM; Cromby CH; Pollitt RJ; Hull D
Pediatr Res; 1990 Jul; 28(1):38-41. PubMed ID: 2165585
[TBL] [Abstract][Full Text] [Related]
7. D-glycerate kinase deficiency as a cause of D-glyceric aciduria.
Van Schaftingen E
FEBS Lett; 1989 Jan; 243(2):127-31. PubMed ID: 2537226
[TBL] [Abstract][Full Text] [Related]
8. Isolation and characterization of the human D-glyceric acidemia related glycerate kinase gene GLYCTK1 and its alternatively splicing variant GLYCTK2.
Guo JH; Hexige S; Chen L; Zhou GJ; Wang X; Jiang JM; Kong YH; Ji GQ; Wu CQ; Zhao SY; Yu L
DNA Seq; 2006 Feb; 17(1):1-7. PubMed ID: 16753811
[TBL] [Abstract][Full Text] [Related]
9. 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
Clin Chem; 1989 Oct; 35(10):2148-51. PubMed ID: 2551543
[TBL] [Abstract][Full Text] [Related]
10. D-glyceric acidemia: an inborn error associated with fructose metabolism.
Duran M; Beemer FA; Bruinvis L; Ketting D; Wadman SK
Pediatr Res; 1987 May; 21(5):502-6. PubMed ID: 3588091
[TBL] [Abstract][Full Text] [Related]
11. [Phosphorylation of D-glyceric acid to 2-phospho-D-glyceric acid with glycerate kinase in the liver. I. On the biochemistry of fructose metabolism. II].
LAMPRECHT W; DIAMANTSTEIN T; HEINZ F; BALDE P
Hoppe Seylers Z Physiol Chem; 1959 Sep; 316():97-112. PubMed ID: 14413719
[No Abstract] [Full Text] [Related]
12. [D-glycerate kinase D-glyceric aciduria].
Nakamura N; Kamoda T
Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):92-4. PubMed ID: 9589998
[No Abstract] [Full Text] [Related]
13. Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.
Gibson KM; Hoffmann G; Nyhan WL; Sweetman L; Berger R; le Coultre R; Smit GP
Eur J Pediatr; 1988 Dec; 148(3):250-2. PubMed ID: 2850914
[TBL] [Abstract][Full Text] [Related]
14. Biocatalytic Asymmetric Phosphorylation Catalyzed by Recombinant Glycerate-2-Kinase.
Hardt N; Kinfu BM; Chow J; Schoenenberger B; Streit WR; Obkircher M; Wohlgemuth R
Chembiochem; 2017 Aug; 18(15):1518-1522. PubMed ID: 28421660
[TBL] [Abstract][Full Text] [Related]
15. In vivo studies on the metabolic derangement in a patient with D-glyceric acidaemia and hyperglycinaemia.
Kølvraa S; Gregersen N; Christensen E
J Inherit Metab Dis; 1984; 7(2):49-52. PubMed ID: 6434823
[TBL] [Abstract][Full Text] [Related]
16. First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria.
Rolland MO; Cuisset L; Le Bozec J; Guffon N; Vianey-Saban C
J Inherit Metab Dis; 2005; 28(6):1141-2. PubMed ID: 16435209
[TBL] [Abstract][Full Text] [Related]
17. [Phosphorylation of D-glyceric acid to 2-phospho-D-glyceric acid with glycerate kinase in the liver. II. Identification of the reaction products by paper chromatography].
LAMPRECHT W; HEINZ F; DIAMANTSTEINT
Hoppe Seylers Z Physiol Chem; 1962 Aug; 328():204-6. PubMed ID: 14461856
[No Abstract] [Full Text] [Related]
18. A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.
Ji JQ; Dimmock D; Tang LY; Descartes M; Gomez R; Rutledge SL; Schmitt ES; Wong LJ
Mitochondrion; 2010 Mar; 10(2):188-91. PubMed ID: 19900589
[TBL] [Abstract][Full Text] [Related]
19. Glycerate 2-kinase of Thermotoga maritima and genomic reconstruction of related metabolic pathways.
Yang C; Rodionov DA; Rodionova IA; Li X; Osterman AL
J Bacteriol; 2008 Mar; 190(5):1773-82. PubMed ID: 18156253
[TBL] [Abstract][Full Text] [Related]
20. D-glyceric aciduria in a six-month-old boy presenting with West syndrome and autistic behaviour.
Topcu M; Saatci I; Haliloglu G; Kesimer M; Coskun T
Neuropediatrics; 2002 Feb; 33(1):47-50. PubMed ID: 11930278
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]