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Items: 16

1.

Management of a patient with holocarboxylase synthetase deficiency.

Van Hove JL, Josefsberg S, Freehauf C, Thomas JA, Thuy le P, Barshop BA, Woontner M, Mock DM, Chiang PW, Spector E, Meneses-Morales I, Cervantes-Roldán R, León-Del-Río A.

Mol Genet Metab. 2008 Dec;95(4):201-5. doi: 10.1016/j.ymgme.2008.09.006. Epub 2008 Oct 29.

2.

[Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)].

Sakamoto O, Narisawa K.

Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):219-22. Review. Japanese. No abstract available.

PMID:
9645047
3.

Mutations in the holocarboxylase synthetase gene HLCS.

Suzuki Y, Yang X, Aoki Y, Kure S, Matsubara Y.

Hum Mutat. 2005 Oct;26(4):285-90. Review.

PMID:
16134170
4.

Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency.

Pendini NR, Bailey LM, Booker GW, Wilce MC, Wallace JC, Polyak SW.

Biochim Biophys Acta. 2008 Jul-Aug;1784(7-8):973-82. doi: 10.1016/j.bbapap.2008.03.011. Epub 2008 Apr 9. Review.

PMID:
18442489
5.

Biotin-dependent regulation of gene expression in human cells.

León-Del-Río A.

J Nutr Biochem. 2005 Jul;16(7):432-4. Review.

PMID:
15992685
6.

Molecular genetics of biotin metabolism: old vitamin, new science.

Gravel RA, Narang MA.

J Nutr Biochem. 2005 Jul;16(7):428-31. Review.

PMID:
15992684
7.

Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.

Baumgartner ER, Suormala T.

Int J Vitam Nutr Res. 1997;67(5):377-84. Review.

PMID:
9350481
8.

[Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients].

Narisawa K, Suzuki Y, Aoki Y.

Nihon Rinsho. 1996 Jan;54(1):259-67. Review. Japanese.

PMID:
8587199
9.
10.

Enzyme studies in biotin-responsive disorders.

Bartlett K, Ghneim HK, Stirk HJ, Wastell H.

J Inherit Metab Dis. 1985;8 Suppl 1:46-52. Review.

PMID:
2864473
11.

Multiple carboxylase deficiency.

Nyhan WL.

Int J Biochem. 1988;20(4):363-70. Review.

PMID:
3284772
12.

Inborn errors of biotin metabolism.

Nyhan WL.

Arch Dermatol. 1987 Dec;123(12):1696-1698a. Review.

PMID:
3318710
13.

Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review.

Bandaralage SP, Farnaghi S, Dulhunty JM, Kothari A.

Pediatr Radiol. 2016 Mar;46(3):357-64. doi: 10.1007/s00247-015-3492-8. Epub 2016 Jan 11. Review.

PMID:
26754537
14.

[Multiple carboxylase deficiency].

Andersen JB, Haagerup A, Christensen E.

Ugeskr Laeger. 1998 Feb 16;160(8):1151-7. Review. Danish.

PMID:
9492625
15.

A novel, enigmatic histone modification: biotinylation of histones by holocarboxylase synthetase.

Hassan YI, Zempleni J.

Nutr Rev. 2008 Dec;66(12):721-5. doi: 10.1111/j.1753-4887.2008.00127.x. Review.

PMID:
19019041
16.

Biotin requirements for DNA damage prevention.

Zempleni J, Teixeira DC, Kuroishi T, Cordonier EL, Baier S.

Mutat Res. 2012 May 1;733(1-2):58-60. doi: 10.1016/j.mrfmmm.2011.08.001. Epub 2011 Aug 17. Review.

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