Article
[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Apr 2005
Morisot C, Millat G, Coeslier A, Bourgois B, Fontenoy E, Dobbelaere D, Verot L, Haouari N, Vaillant C, Gottrand F, Bogaert E, Thelliez P, Klosowski S, Djebara A, Bachiri A, Manouvrier S, Vanier M T
Abstract excerpt
UNLABELLED: We report the fifth case of neonatal form of type C2 (NP-C2) Niemann-Pick disease with early and fatal respiratory distress. Eleven families presenting such cases are known to date in the world. Since December 2000, isolation of the underlying gene HE1/NPC2 and its mutations has allowed major advances in diagnosis. CASE REPORT: Elisa was born in May 2000. NP-C2 disease was associated with severe...
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