Inborn Errors of Metabolism in Children with Unexplained Developmental Delay in Misan, Iraq
نویسندگان
چکیده
منابع مشابه
Garrod's Inborn Errors of Metabolism
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l-Proline concentration is primarily related to the balance of enzymatic activities of proline dehydrogenase [proline oxidase (POX)] and Delta-1-pyrroline-5-carboxylate (P5C) reductase. As a result, P5C plays a pivotal role in maintaining the concentration of proline in body fluids and inborn errors of P5C metabolism lead to disturbance of proline metabolism. Several inborn errors of proline me...
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structural lipid and a precursor molecule for bile acid and steroid hormone synthesis. In addition, this ubiquitous lipid is now known to contribute fundamentally to the development and function of the CNS and the bones, and, as detailed in other articles in this Perspective series, it plays major roles in signal transduction, sperm development, and embryonic morphogenesis. Over the past decade...
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ژورنال
عنوان ژورنال: Oman Medical Journal
سال: 2019
ISSN: 1999-768X,2070-5204
DOI: 10.5001/omj.2019.59