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Items: 15

1.

Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.

Niezen-Koning KE, Wanders RJ, Ruiter JP, Ijlst L, Visser G, Reitsma-Bierens WC, Heymans HS, Reijngoud DJ, Smit GP.

Eur J Pediatr. 1997 Nov;156(11):870-3. Review.

PMID:
9392403
2.

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
3.

Ketone body metabolism and its defects.

Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y.

J Inherit Metab Dis. 2014 Jul;37(4):541-51. doi: 10.1007/s10545-014-9704-9. Epub 2014 Apr 8. Review.

PMID:
24706027
4.

Inborn errors of ketone body utilization.

Hori T, Yamaguchi S, Shinkaku H, Horikawa R, Shigematsu Y, Takayanagi M, Fukao T.

Pediatr Int. 2015;57(1):41-8. doi: 10.1111/ped.12585. Review.

PMID:
25559898
5.

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

Yamaguchi S.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):701-2. Review. Japanese. No abstract available.

PMID:
11528975
7.

[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
8.

Medical aspects of ketone body metabolism.

Mitchell GA, Kassovska-Bratinova S, Boukaftane Y, Robert MF, Wang SP, Ashmarina L, Lambert M, Lapierre P, Potier E.

Clin Invest Med. 1995 Jun;18(3):193-216. Review.

PMID:
7554586
9.

Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan.

Tajima G, Sakura N, Yofune H, Nishimura Y, Ono H, Hasegawa Y, Hata I, Kimura M, Yamaguchi S, Shigematsu Y, Kobayashi M.

J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Sep 5;823(2):122-30. Review.

PMID:
16046200
10.

Inborn errors of ketogenesis and ketone body utilization.

Sass JO.

J Inherit Metab Dis. 2012 Jan;35(1):23-8. doi: 10.1007/s10545-011-9324-6. Epub 2011 Apr 9. Review.

PMID:
21479626
11.

Inborn errors of metabolism in infancy: a guide to diagnosis.

Burton BK.

Pediatrics. 1998 Dec;102(6):E69. Review.

PMID:
9832597
12.

Disorders of ketone production and utilization.

Kayer MA.

Mol Genet Metab. 2006 Apr;87(4):281-3. Review. No abstract available.

PMID:
16622911
13.

Biochemical findings in common inborn errors of metabolism.

Pasquali M, Monsen G, Richardson L, Alston M, Longo N.

Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):64-76. Review.

PMID:
16602099
14.

Newborn screening for inborn errors of metabolism: a systematic review.

Seymour CA, Thomason MJ, Chalmers RA, Addison GM, Bain MD, Cockburn F, Littlejohns P, Lord J, Wilcox AH.

Health Technol Assess. 1997;1(11):i-iv, 1-95. Review.

15.

Disorders caused by deficiency of succinate-CoA ligase.

Ostergaard E.

J Inherit Metab Dis. 2008 Apr;31(2):226-9. doi: 10.1007/s10545-008-0828-7. Epub 2008 Apr 4. Review.

PMID:
18392745

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