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Items: 1 to 20 of 96

1.

A case of beta-ketothiolase deficiency.

Bennett MJ, Littlewood JM, MacDonald A, Pollitt RJ, Thompson J.

J Inherit Metab Dis. 1983;6(4):157. No abstract available.

PMID:
6422156
2.

Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.

Schutgens RB, Middleton B, vd Blij JF, Oorthuys JW, Veder HA, Vulsma T, Tegelaers WH.

Eur J Pediatr. 1982 Sep;139(1):39-42. No abstract available.

PMID:
7173255
3.

3-Ketothiolase deficiency.

Middleton B, Bartlett K, Romanos A, Gomez Vazquez J, Conde C, Cannon RA, Lipson M, Sweetman L, Nyhan WL.

Eur J Pediatr. 1986 Apr;144(6):586-9.

PMID:
3709573
4.

beta-Ketothiolase deficiency with favourable evolution.

Sabetta G, Bachmann C, Giardini O, Castro M, Gambarara M, Vici CD, Bartlett K, Middleton B.

J Inherit Metab Dis. 1987;10(4):405-6. No abstract available.

PMID:
3126364
5.

A variant form of 2-methyl-3-hydroxybutyric and 2-methylacetoacetic aciduria.

Halvorsen S, Stokke O, Jellum E.

Acta Paediatr Scand. 1979 Jan;68(1):123-8.

PMID:
758725
6.

Beta-ketothiolase deficiency brought with lethargy: case report.

Arica V, Arica SG, Dag H, Onur H, Obut O, Gülbayzar S.

Hum Exp Toxicol. 2011 Oct;30(10):1724-7. doi: 10.1177/0960327110396533. Epub 2011 Jan 19.

PMID:
21247997
7.

[beta-Ketothiolase deficiency].

Yamaguchi S, Hashimoto T.

Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):589-91. Japanese. No abstract available.

PMID:
3270868
8.
9.

Two cases of beta-ketothiolase deficiency: a comparison.

Middleton B, Gray RG, Bennett MJ.

J Inherit Metab Dis. 1984;7 Suppl 2:131-2. No abstract available.

PMID:
6434866
10.
11.

Congestive cardiomyopathy associated with beta-ketothiolase deficiency.

Henry CG, Strauss AW, Keating JP, Hillman RE.

J Pediatr. 1981 Nov;99(5):754-7. No abstract available.

PMID:
7299555
12.
13.

Immunochemical studies of cultured fibroblasts from a patient with 3-ketothiolase deficiency.

Yamaguchi S, Orii T, Sakura N, Miyazawa S, Hashimoto T.

J Inherit Metab Dis. 1988;11(3):345-7. No abstract available.

PMID:
3148087
14.

Deficient beta-ketothiolase activity in leukocytes from a patient with 2-methylacetoacetic aciduria.

Hiyama K, Sakura N, Matsumoto T, Kuhara T.

Clin Chim Acta. 1986 Mar 16;155(2):189-94. No abstract available.

PMID:
3698316
15.

3-Ketothiolase deficiency: heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients.

Nagasawa H, Yamaguchi S, Orii T, Schutgens RB, Sweetman L, Hashimoto T.

J Inherit Metab Dis. 1989;12(3):368-72. No abstract available.

PMID:
2575689
17.

Induction of fetal hemoglobin in the presence of increased 3-hydroxybutyric acid associated with beta-ketothiolase deficiency.

Galanello R, Cao A, Olivieri N.

N Engl J Med. 1994 Sep 15;331(11):746-7. No abstract available.

18.

Beta-ketothiolase deficiency. A case report.

Altintaş B, Teziç T, Coşkun T, Ozalp I, Kükner S, Kaya A.

Turk J Pediatr. 1992 Jan-Mar;34(1):43-6. Review.

PMID:
1509529
19.

NMR-based urinalysis for beta-ketothiolase deficiency.

Law CY, Lam CW, Ching CK, Yau KC, Ho TW, Lai CK, Mak CM.

Clin Chim Acta. 2015 Jan 1;438:222-5. doi: 10.1016/j.cca.2014.08.041. Epub 2014 Sep 4.

PMID:
25195009
20.

Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency.

Nagasawa H, Yamaguchi S, Orii T, Schutgens RB, Sweetman L, Hashimoto T.

Pediatr Res. 1989 Aug;26(2):145-9.

PMID:
2570398

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