Clinical, Structural and Biochemical Advances in Hereditary Eye Disorders
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چکیده
منابع مشابه
Biochemical and clinical features of hereditary hyperprolinemia
There are two classifications of hereditary hyperprolinemia: type I (HPI) and type II (HPII). Each type is caused by an autosomal recessive inborn error of the proline metabolic pathway. HPI is caused by an abnormality in the proline-oxidizing enzyme (POX). HPII is caused by a deficiency of Δ-1-pyrroline-5-carboxylate (P5C) dehydrogenase (P5CDh). The clinical features of HPI are unclear. Nephro...
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ژورنال
عنوان ژورنال: FEBS Letters
سال: 1983
ISSN: 0014-5793
DOI: 10.1016/0014-5793(83)80922-3