| Unbound MEDLINE results for: | Bookmark this site | | Articles related to 17971833 [Unique ID], provided by the PubMed system | |
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| Morava E, Lefeber DJ, Urban Z, et al.
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. [JOURNAL ARTICLE]
Eur J Hum Genet 2007 Oct 31.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Morava E, Wopereis S, Coucke P, et al.
Defective protein glycosylation in patients with cutis laxa syndrome. [Case Reports, Journal Article]
Eur J Hum Genet 2005 Apr; 13(4):414-21.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Wopereis S, Morava E, Grünewald S, et al.
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. [Journal Article]
Biochim Biophys Acta 2005 Jun 30; 1741(1-2):156-64.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Rybojad M, Baumann C, Godeau G, et al.
[Congenital generalized cutis laxa: 5 cases] [Case Reports, Journal Article]
Ann Dermatol Venereol 1999 Apr; 126(4):317-9.
Abstract | Full Citation | Find Related Articles | | Okanishi T, Saito Y, Yuasa I, et al.
Cutis laxa with frontoparietal cortical malformation: A novel type of congenital disorder of glycosylation. [JOURNAL ARTICLE]
Eur J Paediatr Neurol 2008 Jan 8.
Abstract | Full Citation | Find Related Articles | | Coman DJ
Diagnostic dilemma's: The congenital disorders of glycosylation are clinical chameleons. [Journal Article]
Eur J Hum Genet 2008 Jan; 16(1):2-4.
Full Citation | Find Related Articles | | Andiran N, Sarikayalar F, Saraçlar M, et al.
Autosomal recessive form of congenital cutis laxa: more than the clinical appearance. [Case Reports, Journal Article]
Pediatr Dermatol 2002 Sep-Oct; 19(5):412-4.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Imaizumi K, Kurosawa K, Makita Y, et al.
Male with type II autosomal recessive cutis laxa. [Case Reports, Journal Article]
Clin Genet 1994 Jan; 45(1):40-3.
Abstract | Full Citation | Find Related Articles | | Morava E, Willemsen MA, Wopereis S, et al.
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. [Case Reports, Journal Article]
Eur J Ophthalmol 2006 Jan-Feb; 16(1):190-4.
Abstract | Full Citation | Find Related Articles |   |
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