Portal de Periódicos da CAPES

Galactosialidosis presenting as nonimmune fetal hydrops: a case report

2009; Wiley; Volume: 29; Issue: 9 Linguagem: Espanhol

10.1002/pd.2299

1097-0223

Susana Carvalho, Márcia Martins, Ana María Fortuna, Umbelina Ramos, C. Ormazábal Ramos, Maria Céu Rodrigues,

Neonatal Health and Biochemistry

Prenatal DiagnosisVolume 29, Issue 9 p. 895-896 Research LetterFree Access Galactosialidosis presenting as nonimmune fetal hydrops: a case report Susana Carvalho, Corresponding Author Susana Carvalho [email protected] Centro Hospitalar do Porto-Unidade Maternidade Júlio Dinis, Porto, PortugalCentro Hospitalar do Porto-Unidade Maternidade Júlio Dinis, Porto, Portugal.Search for more papers by this authorMárcia Martins, Márcia Martins Centro Hospitalar do Porto-Unidade Maternidade Júlio Dinis, Pediatrics, Porto, PortugalSearch for more papers by this authorAna Fortuna, Ana Fortuna Instituto de Genética Médica Jacinto Magalhães, Genetics, Porto, PortugalSearch for more papers by this authorUmbelina Ramos, Umbelina Ramos Centro Hospitalar do Porto, Porto, PortugalSearch for more papers by this authorCarlos Ramos, Carlos Ramos Centro Hospitalar do Porto-Unidade Maternidade Júlio Dinis, Porto, PortugalSearch for more papers by this authorMaria Céu Rodrigues, Maria Céu Rodrigues Centro Hospitalar do Porto-Unidade Maternidade Júlio Dinis, Porto, PortugalSearch for more papers by this author Susana Carvalho, Corresponding Author Susana Carvalho [email protected] Centro Hospitalar do Porto-Unidade Maternidade Júlio Dinis, Porto, PortugalCentro Hospitalar do Porto-Unidade Maternidade Júlio Dinis, Porto, Portugal.Search for more papers by this authorMárcia Martins, Márcia Martins Centro Hospitalar do Porto-Unidade Maternidade Júlio Dinis, Pediatrics, Porto, PortugalSearch for more papers by this authorAna Fortuna, Ana Fortuna Instituto de Genética Médica Jacinto Magalhães, Genetics, Porto, PortugalSearch for more papers by this authorUmbelina Ramos, Umbelina Ramos Centro Hospitalar do Porto, Porto, PortugalSearch for more papers by this authorCarlos Ramos, Carlos Ramos Centro Hospitalar do Porto-Unidade Maternidade Júlio Dinis, Porto, PortugalSearch for more papers by this authorMaria Céu Rodrigues, Maria Céu Rodrigues Centro Hospitalar do Porto-Unidade Maternidade Júlio Dinis, Porto, PortugalSearch for more papers by this author First published: 22 May 2009 https://doi.org/10.1002/pd.2299Citations: 10AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES Creasy RK, Resni KR. 2004. Maternal-fetal medicine. Sauders 31: 563–575. Google Scholar Haverkamp F, Jacobs D, Cantz M, Hansmann M, Fahnenstich H, Zerres K. 1996. Nonimmune hydrops fetalis with galactosialidosis: consequences for family planning. Fetal Diagn Ther 11: 114–119. 10.1159/000264289 CASPubMedWeb of Science®Google Scholar Groener J, Maaswinkel-Mooy P, Smit V, et al. 2003. New mutations in two Dutch patients with early infantile galactosialidosis. Mol Genet Metab 78: 222–228. 10.1016/S1096-7192(03)00005-2 CASPubMedWeb of Science®Google Scholar Janssens PM. 2004. Hydrops fetalis as an indication for a systematic investigation into the presence of lysosomal storage diseases. Ned Tijdschr Geneeskd 148: 264–268. CASPubMedGoogle Scholar Landau D, Zeigler M, Shinwell ES, Meisner I, Bargal R. 1995. Hydrops fetalis in four siblings caused by galactosialidosis. Isr J Med Sci 31: 321–322. CASPubMedWeb of Science®Google Scholar Maire I, Nivelon-Chevallier A. 1981. Combined deficiency of beta-galactosidase and neuraminidase: three affected siblings in a French family. J Inherit Metab Dis 4: 221–223. 10.1007/BF02263656 CASPubMedWeb of Science®Google Scholar Matsumoto N, Gondo K, Kukita J, Higaki K, Paragison RC, Nanba E. 2008. A case of galactosialidosis with a homozygous Q49R point mutation. Brain Dev 30: 595–598. 10.1016/j.braindev.2008.01.012 PubMedWeb of Science®Google Scholar Mueller OT, Henry WM, Shws TB. 1986. Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders. Proc Natl Acad Sci U S A 83: 1817–1821. 10.1073/pnas.83.6.1817 CASPubMedWeb of Science®Google Scholar Patel MS, Callahan JW, Zhang S, et al. 1999. Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up. Am J Med Genet 85: 38–47. 10.1002/(SICI)1096-8628(19990702)85:1 3.0.CO;2-3 CASPubMedWeb of Science®Google Scholar Shimmoto M, Fukuhara Y, Itoh K, Oshima A, Sakuraba H, Suzuki Y. 1993. Protective protein gene mutations in galactosialidosis. J Clin Invest 91: 2393–2398. 10.1172/JCI116472 CASPubMedWeb of Science®Google Scholar Shimmoto M, Takano T, Fukuhara Y, Oshima A, Sakuraba H, Suzuki Y. 1990. Japanese-type adult galactosialidosis: a unique and common splice junction mutation causing exon skipping in the protective protein/carboxypeptidase gene. Proc Jpn Acad 66B: 217–222. 10.2183/pjab.66.217 Web of Science®Google Scholar Hide & Seek Foundation. 2009. www. Hide and seek.org/diseases/galactosialisosis.html. Google Scholar Citing Literature Volume29, Issue9September 2009Pages 895-896 This article also appears in:USS diagnosis of genetic syndromes ReferencesRelatedInformation