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Cholic acid

3-ORD
3Βd deficiency

With chendeoxycholic acid:

3Bd: 7 mg/kg/day.(9, 35)

3-ORD: 8 mg/kg/day.(8, 9, 35)

Alone: 6 - 15 mg/kg/day in 2 divided doses (don’t exceed total dose of 500mg/day) (35, 46).

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PO

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8. Centre for Evidence-Based Medicine. Secondary Centre for Evidence-Based Medicine  2009. http://www.cebm.net/index.aspx?o=1025.

9. Loche S, Carta D, Muntoni AC, Corda R, Pintor C. Oral administration of arginine enhances the growth hormone response to growth hormone releasing hormone in short children. Acta Paediatr 1993;82(10):883-4

35. Singh RH, Kruger WD, Wang L, Pasquali M, Elsas LJ, 2nd. Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria. Genet Med 2004;6(2):90-5 doi: 00125817-200403000-00003 [pii][published Online First: Epub Date]|.

46. Haas D, Garbade SF, Vohwinkel C, et al. Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). J Inherit Metab Dis 2007;30(3):375-87 doi: 10.1007/s10545-007-0537-7[published Online First: Epub Date]|.

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