L J M Spaapen
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Explore the profile of L J M Spaapen including associated specialties, affiliations and a list of published articles.
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6
Citations
56
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Recent Articles
1.
Tabatabaie L, Klomp L, Rubio-Gozalbo M, Spaapen L, Haagen A, Dorland L, et al.
J Inherit Metab Dis
. 2010 Nov;
34(1):181-4.
PMID: 21113737
Unlabelled: 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is considered to be a rare cause of congenital microcephaly, infantile onset of intractable seizures and severe psychomotor retardation. Here, we report for the first...
2.
Espinos C, Pineda M, Martinez-Rubio D, Lupo V, Ormazabal A, Vilaseca M, et al.
J Med Genet
. 2009 Mar;
46(6):407-11.
PMID: 19304569
Urocanase is an enzyme in the histidine pathway encoded by the UROC1 gene. This report describes the first putative mutations, p.L70P and p.R450C, in the coding region of the UROC1...
3.
Steijlen P, van Geel M, Vreeburg M, Marcus-Soekarman D, Spaapen L, Castelijns F, et al.
Br J Dermatol
. 2007 Oct;
157(6):1225-9.
PMID: 17949453
Background: Conradi-Hünermann-Happle syndrome [X-linked dominant chondrodysplasia punctata type 2 (CDPX2); MIM no. 302960] is an X-linked dominant disorder of cholesterol metabolism that causes a wide spectrum of skeletal abnormalities and...
4.
Spaapen L, Bakker J, van der Meer S, Sijstermans H, Steet R, Wevers R, et al.
J Inherit Metab Dis
. 2005 Sep;
28(5):707-14.
PMID: 16151902
Congenital disorders of glycosylation (CDG) represent a group of inherited multiorgan diseases caused by defects in the biosynthesis of glycoproteins. We report on two dysmorphic siblings with severe liver disease...
5.
Dammers R, Rubio-Gozalbo M, Robben S, Bakker J, Spaapen L, Forget P
Acta Paediatr
. 2002 Aug;
91(6):729.
PMID: 12162617
No abstract available.
6.
Kolbach D, Veraart J, Hamulyak K, Spaapen L, Neumann H
Acta Derm Venereol
. 2002 May;
82(1):52-4.
PMID: 12013200
We present a young male patient referred to our hospital with leg ulcers on both legs that were more than 3 years refractory to standard treatment with compression therapy. By...