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Items: 8

1.

Surrogate genetics and metabolic profiling for characterization of human disease alleles.

Mayfield JA, Davies MW, Dimster-Denk D, Pleskac N, McCarthy S, Boydston EA, Fink L, Lin XX, Narain AS, Meighan M, Rine J.

Genetics. 2012 Apr;190(4):1309-23. doi: 10.1534/genetics.111.137471. Epub 2012 Jan 20. Erratum in: Genetics. 2012 Oct;192(2):759-60.

2.

Cystathionine beta-synthase mutations in homocystinuria.

Kraus JP, Janosík M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M.

Hum Mutat. 1999;13(5):362-75. Review.

PMID:
10338090
3.

Komrower Lecture. Molecular basis of phenotype expression in homocystinuria.

Kraus JP.

J Inherit Metab Dis. 1994;17(4):383-90. Review.

PMID:
7967489
4.

The role of cystathionine beta-synthase in homocysteine metabolism.

Jhee KH, Kruger WD.

Antioxid Redox Signal. 2005 May-Jun;7(5-6):813-22. Review.

PMID:
15890029
5.

Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.

Kraus JP.

Eur J Pediatr. 1998 Apr;157 Suppl 2:S50-3. Review.

PMID:
9587026
6.

Structural insights into mutations of cystathionine beta-synthase.

Meier M, Oliveriusova J, Kraus JP, Burkhard P.

Biochim Biophys Acta. 2003 Apr 11;1647(1-2):206-13. Review.

PMID:
12686134
7.

Homocystinuria: Therapeutic approach.

Kumar T, Sharma GS, Singh LR.

Clin Chim Acta. 2016 Jul 1;458:55-62. doi: 10.1016/j.cca.2016.04.002. Epub 2016 Apr 6. Review.

PMID:
27059523
8.

Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.

De Franchis R, Sperandeo MP, Sebastio G, Andria G.

Eur J Pediatr. 1998 Apr;157 Suppl 2:S67-70. Review.

PMID:
9587029

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