Type IIB Autosomal Recessive Cutis Laxa

mutation in PYCR1

Also Known As:

Cutis Laxa, Autosomal Recessive, Type IIB; ARCL2B; Cutis Laxa With Progeroid Features

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

1.	recessive Cutis laxa

1.	Barisic, Ingeborg: 1 article (11/2013)
2.	Bhat, Meenakshi: 1 article (11/2013)
3.	Brancati, Francesco: 1 article (11/2013)
4.	Brum, Jaime Moritz: 1 article (11/2013)
5.	Castori, Marco: 1 article (11/2013)
6.	Chitayat, David: 1 article (11/2013)
7.	David, Albert: 1 article (11/2013)
8.	Dimopoulou, Aikaterini: 1 article (11/2013)
9.	Fischer, Björn: 1 article (11/2013)
10.	Fletcher, Elaine: 1 article (11/2013)

Drugs and Important Biological Agents (IBA) related to Type IIB Autosomal Recessive Cutis Laxa:

1.	Proline (L-Proline)FDA Link 11/01/2013 - "Autosomal recessive cutis laxa type 2B (ARCL2B; OMIM # 612940) is a segmental progeroid disorder caused by mutations in PYCR1 encoding pyrroline-5-carboxylate reductase 1, which is part of the conserved proline de novo synthesis pathway. "
2.	Oxidoreductases (Dehydrogenase)IBA 11/01/2013 - "Autosomal recessive cutis laxa type 2B (ARCL2B; OMIM # 612940) is a segmental progeroid disorder caused by mutations in PYCR1 encoding pyrroline-5-carboxylate reductase 1, which is part of the conserved proline de novo synthesis pathway. "
3.	delta-1-pyrroline-5-carboxylateIBA 11/01/2013 - "Autosomal recessive cutis laxa type 2B (ARCL2B; OMIM # 612940) is a segmental progeroid disorder caused by mutations in PYCR1 encoding pyrroline-5-carboxylate reductase 1, which is part of the conserved proline de novo synthesis pathway. "