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

✍ Scribed by Rita Kretz; Bita Bozorgmehr; Mohamad Hasan Kariminejad; Marianne Rohrbach; Ingrid Hausser; Alessandra Baumer; Matthias Baumgartner; Cecilia Giunta; Ariana Kariminejad; Johannes Häberle

• Publisher: Springer
• Year: 2011
• Tongue: English
• Weight: 548 KB
• Volume: 34
• Category: Article
• ISSN: 0141-8955
• DOI: 10.1007/s10545-011-9319-3