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Four‐decade‐old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency
Authors:Toshiki Takenouchi  Yuki Tsukahara  Reiko Horikawa  Kenjiro Kosaki  Rika Kosaki
Affiliation:1. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan;2. Center for Maternal‐Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan;3. Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan;4. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan;5. Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan
Abstract:
Keywords:umbilicus  mummification  inborn errors of metabolism  urea cycle disorders
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