| Congenital sialidosis. | |
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MedLine Citation:
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PMID: 9763912 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Congenital sialidosis is a rare disease resulting from the absence of neurominidase and presenting with hydrops fetalis, hepatosplenomegaly, dysmorphic features, vacuolated lymphocytes and extensive vacuolation of the connective tissue. Elevated levels of sialooligosaccharides in the urine is characteristic. We describe a newborn baby with congenital sialidosis and discuss the difficulties in reaching the diagnosis. |
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Authors:
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F Ovali; N Samanci; A Güray; Z Akdoğan; C Akdeniz; T Dağoğlu; I Petorak |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The Turkish journal of pediatrics Volume: 40 ISSN: 0041-4301 ISO Abbreviation: Turk. J. Pediatr. Publication Date: 1998 Jul-Sep |
Date Detail:
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Created Date: 1998-10-20 Completed Date: 1998-10-20 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0417505 Medline TA: Turk J Pediatr Country: TURKEY |
Other Details:
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Languages: eng Pagination: 447-51 Citation Subset: IM |
Affiliation:
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Department of Gynecology and Obstetrics, Istanbul University Istanbul Faculty of Medicine, Istanbul. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Fatal Outcome Female Humans Hydrops Fetalis / etiology Infant, Newborn Lysosomal Storage Diseases* / complications Male |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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