Defect in proline synthesis: pyrroline-5-carboxylate...

Journal of Inherited Metabolic Disease 2011 / 06 Vol. 34; Iss. 3

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities

Rita Kretz, Bita Bozorgmehr, Mohamad Hasan Kariminejad, Marianne Rohrbach, Ingrid Hausser, Alessandra Baumer, Matthias Baumgartner, Cecilia Giunta, Ariana Kariminejad, Johannes Häberle
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Volume:
34
Language:
english
Pages:
9
DOI:
10.1007/s10545-011-9319-3
Date:
June, 2011
File:
PDF, 548 KB
english, 2011
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