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Items: 15

2.

Molecular basis of maple syrup urine disease and stable correction by retroviral gene transfer.

Chuang DT, Davie JR, Wynn RM, Chuang JL, Koyata H, Cox RP.

J Nutr. 1995 Jun;125(6 Suppl):1766S-1772S. Review.

PMID:
7782943
3.

Maple syrup urine disease: it has come a long way.

Chuang DT.

J Pediatr. 1998 Mar;132(3 Pt 2):S17-23. Review.

PMID:
9546032
4.

[Gene analysis of maple syrup urine disease (MSUD)].

Mitsubuchi H, Nobukuni Y, Hayashida Y, Ohta K, Indo Y, Akaboshi I, Endo F, Matsuda I.

Rinsho Byori. 1993 May;41(5):484-91. Review. Japanese.

PMID:
8350511
5.

[Maple syrup urine disease: molecular pathology of the branched chain alpha-keto acid dehydrogenase complex].

Nobukuni Y, Mitsubuchi H, Indo Y, Endo F, Matsuda I.

Seikagaku. 1992 Feb;64(2):67-82. Review. Japanese. No abstract available.

PMID:
1593184
6.

Molecular genetic basis for inherited human disorders of branched-chain alpha-keto acid dehydrogenase complex.

Danner DJ, Litwer S, Herring WJ, Elsas LJ.

Ann N Y Acad Sci. 1989;573:369-77. Review. No abstract available.

PMID:
2699404
7.

Maple syrup urine disease 1954 to 1993.

Peinemann F, Danner DJ.

J Inherit Metab Dis. 1994;17(1):3-15. Review. No abstract available.

PMID:
8051937
8.

[Maple syrup urine disease].

Indo Y.

Nihon Rinsho. 2002 Apr;60 Suppl 4:783-7. Review. Japanese. No abstract available.

PMID:
12013999
9.

[Maple syrup urine disease].

Indo Y, Matsuda I.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):201-4. Review. Japanese. No abstract available.

PMID:
9590028
10.

Structural basis of the dysfunctioning of human 2-oxo acid dehydrogenase complexes.

Hengeveld AF, de Kok A.

Curr Med Chem. 2002 Feb;9(4):499-520. Review.

PMID:
11945122
12.

Animal models of maple syrup urine disease.

Skvorak KJ.

J Inherit Metab Dis. 2009 Apr;32(2):229-46. doi: 10.1007/s10545-009-1086-z. Epub 2009 Mar 9. Review.

PMID:
19263237
13.

Thiamine-responsive inborn errors of metabolism.

Duran M, Wadman SK.

J Inherit Metab Dis. 1985;8 Suppl 1:70-5. Review.

PMID:
3930844
14.

Human mutations affecting branched chain alpha-ketoacid dehydrogenase.

Danner DJ, Doering CB.

Front Biosci. 1998 Jun 3;3:d517-24. Review.

PMID:
9609836
15.

Neurological damage in MSUD: the role of oxidative stress.

Sitta A, Ribas GS, Mescka CP, Barschak AG, Wajner M, Vargas CR.

Cell Mol Neurobiol. 2014 Mar;34(2):157-65. doi: 10.1007/s10571-013-0002-0. Epub 2013 Nov 13. Review.

PMID:
24220995

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