Leo Spaapen
Overview
Explore the profile of Leo Spaapen including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
2
Citations
151
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Moog U, van Mierlo I, van Schrojenstein Lantman-de Valk H, Spaapen L, Maaskant M, Curfs L
Am J Med Genet C Semin Med Genet
. 2007 Jul;
145C(3):293-301.
PMID: 17640047
Sanfilippo type B is an autosomal recessive mucopolysaccharidosis (MPS IIIB) caused by deficiency of N-acetyl-alpha-D-glucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulfate. It is characterized by neurologic...
2.
Wu X, Steet R, Bohorov O, Bakker J, Newell J, Krieger M, et al.
Nat Med
. 2004 Apr;
10(5):518-23.
PMID: 15107842
The congenital disorders of glycosylation (CDG) are characterized by defects in N-linked glycan biosynthesis that result from mutations in genes encoding proteins directly involved in the glycosylation pathway. Here we...