Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 151

1.

Absence of branched chain acyl-transferase as a cause of maple syrup urine disease.

Danner DJ, Armstrong N, Heffelfinger SC, Sewell ET, Priest JH, Elsas LJ.

J Clin Invest. 1985 Mar;75(3):858-60.

2.

Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.

Harris RA, Zhang B, Goodwin GW, Kuntz MJ, Shimomura Y, Rougraff P, Dexter P, Zhao Y, Gibson R, Crabb DW.

Adv Enzyme Regul. 1990;30:245-63.

PMID:
2403034
5.
7.
9.

A structural abnormality of E1 component of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease.

Indo Y, Kitano A, Akaboshi I, Endo F, Matsuda I.

J Inherit Metab Dis. 1987;10(3):281-3. No abstract available.

PMID:
3123794
10.

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
11.
12.

[Maple syrup urine disease].

Matsuda I.

Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):585-8. Japanese. No abstract available.

PMID:
3270867
13.

[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
14.

Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.

Zhang B, Edenberg HJ, Crabb DW, Harris RA.

J Clin Invest. 1989 Apr;83(4):1425-9.

16.

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
17.
19.

Gene preference in maple syrup urine disease.

Nellis MM, Danner DJ.

Am J Hum Genet. 2001 Jan;68(1):232-7. Epub 2000 Dec 7.

Supplemental Content

Support Center