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Chenodeoxycholic acid (Chenodiol®)
- 3β-dehydrogenase deficiency (3Βd)
- Delta 4-3-oxosteroid 5 beta-reductase deficiency (3-ORD)
- Cerebrotendinous xanthomatosis (CTX)250 mg tablets
PO
Cholesterol accumulation, GI upset, elevated liver enzymes, lipid abnormalities, phlebitis, leucopenia
4
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]|.
36. Wastell HJ, Bartlett K, Dale G, Shein A. Biotinidase deficiency: a survey of 10 cases. Arch Dis Child 1988;63(10):1244-9
37. Heron B, Gautier A, Dulac O, Ponsot G. [Biotinidase deficiency. Progressive encephalopathy curable with biotin]. Arch Fr Pediatr 1993;50(10):875-8
38. El-Hajj TI, Karam PE, Mikati MA. Biotin-responsive basal ganglia disease: case report and review of the literature. Neuropediatrics 2008;39(5):268-71 doi: 10.1055/s-0028-1128152[published Online First: Epub Date]|.
