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Items: 1 to 20 of 295

1.

Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency.

Fukao T, Song XQ, Watanabe H, Hirayama K, Sakazaki H, Shintaku H, Imanaka M, Orii T, Kondo N.

Prenat Diagn. 1996 May;16(5):471-4.

PMID:
8844009
2.

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings.

Song XQ, Fukao T, Watanabe H, Shintaku H, Hirayama K, Kassovska-Bratinova S, Kondo N, Mitchell GA.

Hum Mutat. 1998;12(2):83-8.

PMID:
9671268
3.

Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.

Mandell R, Packman S, Laframboise R, Golbus MS, Schmidt K, Workman L, Saudubray JM, Shih VE.

Prenat Diagn. 1996 May;16(5):419-24.

PMID:
8843999
4.

Two siblings with episodic ketoacidosis and decreased activity of succinyl-CoA:3-ketoacid CoA-transferase in cultured fibroblasts.

Pretorius CJ, Loy Son GG, Bonnici F, Harley EH.

J Inherit Metab Dis. 1996;19(3):296-300.

PMID:
8803771
5.

Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency.

Song XQ, Fukao T, Mitchell GA, Kassovska-Bratinova S, Ugarte M, Wanders RJ, Hirayama K, Shintaku H, Churchill P, Watanabe H, Orii T, Kondo N.

Biochim Biophys Acta. 1997 Apr 12;1360(2):151-6.

PMID:
9128180
6.

Fetal diagnosis of inborn errors of metabolism.

Galjaard H.

Baillieres Clin Obstet Gynaecol. 1987 Sep;1(3):547-67. Review.

PMID:
3325206
8.

Prenatal diagnosis of galactosemia.

Jakobs C, Kleijer WJ, Allen J, Holton JB.

Eur J Pediatr. 1995;154(7 Suppl 2):S33-6.

PMID:
7671961
9.

Prenatal diagnosis of purine nucleoside phosphorylase deficiency in the first and second trimesters of pregnancy.

Kleijer WJ, Hussaarts-Odijk LM, Los FJ, Pijpers L, De Bree PK, Duran M.

Prenat Diagn. 1989 Jun;9(6):401-7.

PMID:
2503819
10.

Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples.

Van Coster RN, Janssens S, Misson JP, Verloes A, Leroy JG.

Prenat Diagn. 1998 Oct;18(10):1041-4.

PMID:
9826895
11.

Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations.

Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N.

Genomics. 2000 Sep 1;68(2):144-51.

PMID:
10964512
15.

Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay.

He W, Voznyi YaV, Huijmans JG, Geilen GC, Karpova EA, Dudukina TV, Zaremba J, Van Diggelen OP, Kleijer WJ.

Prenat Diagn. 1994 Jan;14(1):17-22.

PMID:
8183833
16.

Hyperketotic states due to inherited defects of ketolysis.

Saudubray JM, Specola N, Middleton B, Lombes A, Bonnefont JP, Jakobs C, Vassault A, Charpentier C, Day R.

Enzyme. 1987;38(1-4):80-90. Review.

PMID:
2894307
17.

[Succinyl-CoA: 3-ketoacid CoA transferase deficiency].

Fukao T.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):355-8. Review. Japanese. No abstract available.

PMID:
9590068
18.

Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods.

Rizzo WB, Craft DA, Kelson TL, Bonnefont JP, Saudubray JM, Schulman JD, Black SH, Tabsh K, Dirocco M, Gardner RJ.

Prenat Diagn. 1994 Jul;14(7):577-81.

PMID:
7971759
19.

Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.

Kassovska-Bratinova S, Fukao T, Song XQ, Duncan AM, Chen HS, Robert MF, Pérez-Cerdá C, Ugarte M, Chartrand C, Vobecky S, Kondo N, Mitchell GA.

Am J Hum Genet. 1996 Sep;59(3):519-28.

20.

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