Bibliography
- Marx SJ. Hyperparathyroid and hypoparathyroid disorders. N Engl J Med 2000;343(25):1863-75
- Mannstadt M, Clarke BL, Vokes T, et al. Efficacy and safety of recombinant human parathyroid hormone (1?84) in hypoparathyroidism (REPLACE): a double-blind, placebo-controlled, randomised, phase 3 study. Lancet Diabetes Endocrinol 2013;1(4):275-83
- Agency EM. Public summary of opinion on orphan designation Recombinant human parathyroid hormone for the treatment of hypoparathyroidism. 2014
- Jakaitis BM, Denning PW. Commensal and probiotic bacteria may prevent NEC by maturing intestinal host defenses. Pathophysiology 2014;21(1):47-54
- Agency EM. Public summary of opinion on orphan designation Lactobacillus acidophilus and Bifidobacterium bifidum for the prevention of necrotising enterocolitis. 2013
- Hartley JL, Gissen P, Kelly DA. Alagille syndrome and other hereditary causes of Cholestasis. Clin Liver Dis 2013;17(2):279-300
- Agency EM. Public summary of opinion:(4R,5R)-1-[[4-[[4-[3,3-dibutyl-7-(dimethylamino)-2,3,4,5-tetrahydro-4-hydroxy-1,1-dioxido-1-benzothiepin-5-yl]phenoxy]methyl]phenyl]methyl]-4-aza -1-azoniabicyclo[2.2.2]octanechloride for the treatment of Alagille syndrome. 2014
- Alissa FT, Jaffe R, Shneider BL. Update on progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 2008;46(3):241-52
- Agency EM. Public summary of opinion:(4R,5R)-1-[[4-[[4-[3,3-dibutyl-7-(dimethylamino)-2,3,4,5-tetrahydro-4-hydroxy-1,1-dioxido-1-benzothiepin-5-yl]phenoxy]methyl]phenyl]methyl]-4-aza -1-azoniabicyclo[2.2.2]octanechloride for the treatment of progressive familial intrahepatic cholestasis. 2013
- Agency EM. Public summary of opinion on orphan designation Recombinant human type I pancreatic elastase for the prevention of arteriovenous access dysfunction in haemodialysis patients. 2013
- Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120(3):479-90
- Agency EM. Public summary of opinion on orphan designation Fenfluramine hydrochloride for the treatment of Dravet syndrome. 2013
- Simmons CP, Farrar JJ, Van Vinh Chau N, Wills B. Dengue. N Engl J Med 2012;366(15):1423-32
- Agency EM. Public Summary of Opinion: Poly[2-[(4-{[1-carboxy-2-(hexadecylcarbamoyl)ethyl]sulfanyl}-2,3-bis({2-[((2S)-2-(2-{[(2R)-2-carbamoyl-(2-{[(2S)-1-ethoxy-3-(3-hydroxy-4oxo-1,4-dihydropyridin-1-yl)-1-oxopropan-2-yl]carbamoyl}ethyl]sulfanyl}-3-{[(2S)-1-ethoxy-3-(3-hydroxy-4-oxo-1,4-dihydropyridin-1-yl)-1-oxopropan-2-yl]carbamoyl}propanamido)-3-(3-hydroxy-4-oxo-1,4-dihydropyridin-1-yl)propanoyl Ethyl ester)) -methoxy]acetyl}oxy)butyl)sulfanyl]-3-(hexadecylcarbamoyl)propanoic acid]-poly(ethylene glycol)-ester] for the treatment of dengue. 2014
- Chen Y-H, Ke Z-L, Wang Y-X, et al. Two case reports of familial Chylomicronemia syndrome. Case Rep Pediatr 2012;2012:384719
- Agency EM. Public summary of opinion on orphan designation: Phosphorothioate oligonucleotide targeted to apolipoprotein C-III for the treatment of familial chylomicronaemia syndrome. 2014
- Park JH, Schuchman EH. Acid ceramidase and human disease. Biochim Biophys Acta 2006;1758(12):2133-8
- Devi ARR, Gopikrishna M, Ratheesh R, et al. Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. J Hum Genet 2006;51(9):811-14
- Agency EM. Public summary of opinion on orphan designation: Recombinant human acid ceramidase for the treatment of Farber disease. 2014
- Morató L, Galino J, Ruiz M, et al. Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy. Brain 2013;136(8):2432-43
- Chahrour M, Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron 2007;56(3):422-37
- Levitt ES, Hunnicutt BJ, Knopp SJ, et al. A selective 5-HT1a receptor agonist improves respiration in a mouse model of Rett syndrome. J Appl Physiol 2013;115(11):1626-33
- Fine JD. Inherited epidermolysis bullosa: past, present, and future. Ann NY Acad Sci 2010;1194:213-22
- Agency EM. Public summary of opinion on orphan designation:Allantoin for the treatment of epidermolysis bullosa. 2014
- Turner C, Hilton-Jones D. The myotonic dystrophies: diagnosis and management. J Neurol Neurosurg Psychiatry 2010;81(4):358-67
- Agency EM. Public summary of opinion on orphan designation (6aS)-1,10-dimethoxy-6-methyl-5,6,6a,7-tetrahydro-4H-dibenzo[de,g]quinoline-2,9-diol for the treatment of dystrophic myotonia. 2014
- Paddock ML, Wiley SE, Axelrod HL, et al. MitoNEET is a uniquely folded 2Fe 2S outer mitochondrial membrane protein stabilized by pioglitazone. Proc Natl Acad Sci USA 2007;104(36):14342-7