Primary neuraminidase deficiency with prenatal disclosure
Tabardel, Y.; Soyeur, D.; Vivario, E.; Senterre, J.
Archives Francaises de Pediatrie 46(10): 737-740
1989
ISSN/ISBN: 0003-9764 PMID: 2697196 Document Number: 336719
The authors report a case of infantile sialidosis with hydrops fetalis and heart failure. At birth the baby presented a dysmorphic syndrome with histological anomalies. A storage disease with deficiency of neuraminidase activity, sialidosis type II, was confirmed. Amniocentesis with sialic-acid dosage or thin-layed chromatography seems necessary in hydrops fetalis with heart failure of unknown origin.
Document emailed within 1 workday
Related Documents
Luther, P.; Klamm, H.; Weber, S. 1983: Simple detection of mumps virus neuraminidase and anti-neuraminidase with the lectin neuraminidase test Acta Virologica 27(1): 89-91Ishibashi, A.; Tsuboi, R.; Shinmei, M. 1984: Beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum Archives of Dermatology 120(10): 1344-1346
Linchevskaia, A.A.; Saburova, A.M.; Epshteĭn, I.A. 1971: Activation of lipoxygenase, neuraminidase and phospholipase a in cellular and subcellular membranes in carbon tetrachloride poisoning and vitamin e deficiency Tsitologiia 13(7): 911-914
Pessina, G.P.; Bocci, V. 1974: Effect of neuraminidase on plasma and membrane glycoproteins. II. Presence of neuraminidase in the rabbit spleen Bollettino della Societa Italiana di Biologia Sperimentale 50(15): 1201-1206
Abed, Y.; Baz, M.; Boivin, G. 2006: Impact of neuraminidase mutations conferring influenza resistance to neuraminidase inhibitors in the N1 and N2 genetic backgrounds Antiviral Therapy 11(8): 971-976
Kaaya, S.F.; Blander, J.; Antelman, G.; Cyprian, F.; Emmons, K.M.; Matsumoto, K.; Chopyak, E.; Levine, M.; Smith Fawzi, M.C. 2013: Randomized controlled trial evaluating the effect of an interactive group counseling intervention for HIV-positive women on prenatal depression and disclosure of HIV status Aids Care 25(7): 854-862
Ray, R.K.; Simmons, R.L. 1973: Differential release of sialic acid from normal and malignant cells by Vibrio cholerae neuraminidase or influenza virus neuraminidase Cancer Research 33(5): 936-939
Chuvakova, Z.K.; Dem'ianenko, I.V.; Chaĭka, O.V.; Shilov, A.A.; Kim, E.V.; Rovnova, Z.I.; Isaeva, E.I.; Isaeva, E.S. 1989: Antigenic specificity of neuraminidase and structure of neuraminidase gene of influenza A(H1N1) serotype Hsw1N1 viruses isolated from man and animals Voprosy Virusologii 34(6): 656-661
Van Genderen, P.J.; Michiels, J.J.; Zijlstra, F.J. 1994: Lipoxygenase deficiency in primary thrombocythemia is not a true deficiency Thrombosis and Haemostasis 71(6): 803-804
Gribkova, N.V.; Tsvetkova, I.V.; Lipkind, M.A. 1973: Lability of neuraminidase and hemagglutinin in cells of a primary culture of chick embryo fibroblasts infected with Newcastle disease virus Voprosy Virusologii 18(3): 321-326
Cox, D.W.; Mansfield, T. 1985: Prenatal diagnosis for alpha 1-antitrypsin deficiency Lancet 1(8422): 230
Firinu, C.; Meloni, T.; Milia, S.; Virdis, P.; Lo Dico, G.; Stoppelli, I. 1983: Prenatal prevention of hyperbilirubinemia due to G6PD deficiency Minerva Ginecologica 35(5): 287-290
Jerkeman, A.; Henriksson, P.; Jonsson, N.O.; Berntorp, E. 1998: Homozygous protein C deficiency can be detected by prenatal diagnosis Lakartidningen 95(36): 3772; 3775-3777
Dima, A.L.; Stutterheim, S.E.; Lyimo, R.; de Bruin, M. 2014: Advancing methodology in the study of HIV status disclosure: the importance of considering disclosure target and intent Social Science and Medicine 108: 166-174
Kennedy, N.J.; Sanborn, J.S. 1992: Disclosure of tardive dyskinesia: effect of written policy on risk disclosure Psychopharmacology Bulletin 28(1): 93-100
Augusti, E.; Myhre, M.C. 2021: The Barriers and Facilitators to Abuse Disclosure and Psychosocial Support Needs in Children and Adolescents Around the time of Disclosure Child Care in Practice: 1-16
Bonvini, G.; Cotta-Ramusino, A.; Ricciardi, G. 1994: Congenital factor V deficiency and intraventricular hemorrhage of prenatal origin La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics 16(1): 93-94
Ubesie, A.C.; Iloh, K.K.; Emodi, I.J.; Ibeziako, N.S.; Obumneme-Anyim, I.N.; Iloh, O.N.; Ayuk, A.C.; Anikene, C.J.; Enemuo, J.E. 2016: HIV status disclosure rate and reasons for non-disclosure among infected children and adolescents in Enugu, southeast Nigeria Sahara J: Journal of Social Aspects of Hiv/Aids Research Alliance 13(1): 136-141
Kouanda, S.; Yaméogo, W.M.E.; Berthé, A.; Bila, B.; Bocoum Yaya, F.K.; Somda, A.; Doulougou, B.; Sanou, M.J.; Sondo, B.; Msellati, P. 2012: Self-disclosure of a HIV-positive serostatus: factors favoring disclosure and consequences for persons living with HIV/AIDS in Burkina Faso Revue d'Epidemiologie et de Sante Publique 60(3): 221-228
Moses, S.; Tomlinson, M. 2013: The fluidity of disclosure: a longitudinal exploration of women's experience and understanding of HIV disclosure in the context of pregnancy and early motherhood Aids Care 25(6): 667-675