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Keywords: inborn errors of metabolism
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Articles
Emerg Top Life Sci (2019) 3 (1): 75–95.
Published: 27 March 2019
....1.031207.113113 11 Illsinger , S. and Das , A.M. ( 2010 ) Impact of selected inborn errors of metabolism on prenatal and neonatal development . IUBMB Life 62 , 403 – 413 12 van Karnebeek , C.D. , Hartmann , H. , Jaggumantri , S. , Bok , L.A. , Cheng , B. , Connolly...
Includes: Supplementary data
Articles
Emerg Top Life Sci (2019) 3 (1): 63–73.
Published: 08 February 2019
...Wyatt W. Yue; Sabrina Mackinnon; Gustavo A. Bezerra Inborn errors of metabolism (IEM) represent a growing group of monogenic disorders each associated with inherited defects in a metabolic enzyme or regulatory protein, leading to biochemical abnormalities arising from a metabolic block. Despite the...