Document Detail


Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance.
MedLine Citation:
PMID:  23358709     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
CONCLUSION: The diagnosis of LPI is usually not suspected by clinical findings alone, and specific laboratory investigations and molecular analysis are important to get a definitive diagnosis.
Authors:
Anasufiza Habib; Zabedah Md Yunus; Nor Azimah Azize; Gaik-Siew Ch'ng; Winnie Peitee Ong; Bee-Chin Chen; Ho-Torng Hsu; Ke-Juin Wong; James Pitt; Lock-Hock Ngu
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2013-01-29
Journal Detail:
Title:  European journal of pediatrics     Volume:  172     ISSN:  1432-1076     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2013 Sep 
Date Detail:
Created Date:  2013-08-14     Completed Date:  2014-04-04     Revised Date:  2014-07-31    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  1277-81     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Metabolism, Inborn Errors / diagnosis*,  genetics,  urine
Antigens, CD98 Light Chains / genetics*
Biological Markers / urine
Child, Preschool
Citrulline / analogs & derivatives*,  urine
Genetic Markers
Genetic Testing
Humans
Malaysia
Male
Point Mutation
Chemical
Reg. No./Substance:
0/Antigens, CD98 Light Chains; 0/Biological Markers; 0/Genetic Markers; 0/SLC7A7 protein, human; 1190-49-4/homocitrulline; 29VT07BGDA/Citrulline

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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