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-pyrr...

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Bibliographic Details
Published in:Pediatr Int
Main Authors: Mitsubuchi, Hiroshi, Nakamura, Kimitoshi, Matsumoto, Shirou, Endo, Fumio
Format: Artigo
Language:Inglês
Published: BlackWell Publishing Ltd 2014
Subjects:
Review Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4282441/
https://ncbi.nlm.nih.gov/pubmed/24931297
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ped.12420
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