In utero diagnosis of niemann–Pick type C in the absence of family history

JIMD Reports

Volumn 28, Issue , 2016, Pages 105-110

  Colin, E ^a   Barth, M ^a   Boussion, F ^a   Latour, P ^b   Piguet Lacroix, G ^b   Guichet, A ^a   Ziegler, A ^a   Triau, S ^a   Loisel, D ^a   Sentilhes, L ^a   Bonneau, D ^a  

^a ANGERS UNIVERSITY HOSPITAL   (France)

^b HOSPICES CIVILS DE LYON   (France)

Author keywords

Free sialic acid; Lipid storage disease; Lysosomal storage disease; NPC2 gene; Unesterified cholesterol

Indexed keywords

EID: 84991274145     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2015_516     Document Type: Chapter

References (11)

1. Baumkötter J, Freisinger P, Schneider KTM, Harzer K, Vanier MT, Pontz BF (1998) Fetal ascites: a rare presentation of Niemann–-Pick disease type C. J Inherit Metab Dis 21(Suppl 2):118
2. Maconochie IK, Chong S, Mieli-Vergani G, Lake BD, Mowat AP (1989) Fetal ascites: an unusual presentation of Niemann–Pick disease type C. Arch Dis Child 64:1391–1393
3. Manning DJ, Price WI, Pearse RG (1990) Fetal ascites: an unusual presentation of Niemann–Pick disease type C. Arch Dis Child 65:335–336
4. Moreno R, Lardennois C, Drouin-Garraud V, Verspyck E, Marret S, Laquerrière A (2008) Prenatal revelation of Niemann–Pick disease type C in siblings. Acta Paediatr Oslo Nor 97:1136–1139
5. Porter FD, Scherrer DE, Lanier MH et al (2010) Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann–Pick C1 disease. Sci Transl Med 2:56ra81
6. Rodríguez-Pascau L, Toma C, Macías-Vidal J et al (2012) Character-isation of two deletions involving NPC1 and flanking genes in Niemann–Pick type C disease patients. Mol Genet Metab 107:716–720
7. Spiegel R, Raas-Rothschild A, Reish O et al (2009) The clinical spectrum of fetal Niemann–Pick type C. Am J Med Genet A 149A:446–450
8. Surmeli-Onay O, Yakarisik S, Korkmaz A et al (2013) Prenatal-onset Niemann–Pick type C disease with nonimmune hydrops fetalis. Pediatr Neonatol 54:344–347
9. Vanier MT (2002) Prenatal diagnosis of Niemann–Pick diseases types A, B and C. Prenat Diagn 22:630–632
10. Vanier MT (2010) Niemann–Pick disease type C. Orphanet J Rare Dis 5:16
11. Vanier MT, Rodriguez-Lafrasse C, Rousson R et al (1992) Prenatal diagnosis of Niemann–Pick type C disease: current strategy from an experience of 37 pregnancies at risk. Am J Hum Genet 51:111–122