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- Title
The association of molybdenum cofactor deficiency and pyloric stenosis.
- Authors
Tezel, G; Oztekin, O; Kalay, S; Aslan, A; Akçakuş, M; Oygür, N
- Abstract
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.
- Publication
Journal of perinatology : official journal of the California Perinatal Association, 2012, Vol 32, Issue 11, p896
- ISSN
1476-5543
- Publication type
Journal Article
- DOI
10.1038/jp.2011.192