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

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

In: Journal of Inherited Metabolic Disease, 2011, vol. 34, no. 3, p. 731-739

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