Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact
Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolically inherited disorder, caused by an abnormal function of the branched-chain α-keto acid dehydrogenase complex in the mitochondria. Case Presentation: The proband was born after a full-term pregnancy and no...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Discover STM Publishing Ltd
2019-12-01
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| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=17754 |