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- Title
Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.
- Authors
TOSHIAKI HITOMI; NORIO MATSUURA; YOSUKE SHIGEMATSU; YOSHIYUKI OKANO; ERI SHINOZAKI; MASAHIKO KAWAI; HATASU KOBAYASHI; HARADA, KOUJI H.; AKIO KOIZUMI
- Abstract
The article presents a study focusing on importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency (SCD). The findings include the molecular diagnosis unveiling two new masked cases A11 and C10, diagnosis of SCD with a carrier for one proband (C14) screened in newborn screening (NBS), and confirmation of SCD in a serious case (D13) suspected to have Reye's syndrome.
- Subjects
MOLECULAR diagnosis; CARNITINE deficiency; DEFICIENCY diseases; REYE'S syndrome; FATTY liver
- Publication
Journal of Genetics, 2015, Vol 94, Issue 1, p147
- ISSN
0022-1333
- Publication type
Article
- DOI
10.1007/s12041-015-0486-0