Document Detail


The association of molybdenum cofactor deficiency and pyloric stenosis.
MedLine Citation:
PMID:  23128059     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Molybdenum cofactor deficiency (MoCD) is a rare autosomal recessive disorder that may present during the neonatal period with intractable seizures. Co-existence of MoCD and pyloric stenosis is previously reported as a coincidence or common etiology. The etiology of the two conditions is unclear; however, reports demonstrate neuronal deficiency in both. We report a neonate who was diagnosed with MoCD and hypertrophic pyloric stenosis.
Authors:
G Tezel; O Oztekin; S Kalay; A Aslan; M Akçakuş; N Oygür
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of perinatology : official journal of the California Perinatal Association     Volume:  32     ISSN:  1476-5543     ISO Abbreviation:  J Perinatol     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-06     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8501884     Medline TA:  J Perinatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  896-8     Citation Subset:  IM    
Affiliation:
Division of Neonatology, Department of Pediatrics, Akdeniz University Medical School, Antalya, Turkey.
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