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

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

Publisher： Springer Publishing Company

ISSN： 0141-8955

Source： Journal of Inherited Metabolic Disease, Vol.34, Iss.3, 2011-06, pp. : 731-739

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

5α-Reductase deficiency in patients with micropenis

By Gad Y.Z.   Nasr H.   Mazen I.   Salah N.   El-Ridi R.  

Journal of Inherited Metabolic Disease, Vol. 20, Iss. 1, 1997-01 ,pp. : 95-101

Springer Publishing Company

Access to resources Recommend Favorite

Complex I deficiency in association with structural abnormalities of the diaphragm and brain

By Ellaway C.   North K.   Arbuckle S.   Christodoulou J.  

Journal of Inherited Metabolic Disease, Vol. 21, Iss. 1, 1998-01 ,pp. : 72-73

Springer Publishing Company

Access to resources Recommend Favorite

X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype

By Anselm I.   Alkuraya F.   Salomons G.   Jakobs C.   Fulton A.   Mazumdar M.   Rivkin M.   Frye R.   Poussaint T.   Marsden D.  

Journal of Inherited Metabolic Disease, Vol. 29, Iss. 6, 2006-12 ,pp. : 764-764

Springer Publishing Company

Access to resources Recommend Favorite

Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In)

By Clayton P.   Grunewald S.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 137-139

Springer Publishing Company

Access to resources Recommend Favorite

Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency

By Enns G.   Barkovich A.   van Kuilenburg A.   Manning M.   Sanger T.   Witt D.   van Gennip A.  

Journal of Inherited Metabolic Disease, Vol. 27, Iss. 4, 2004-07 ,pp. : 513-522

Springer Publishing Company

Access to resources Recommend Favorite