Otto P van Diggelen
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Explore the profile of Otto P van Diggelen including associated specialties, affiliations and a list of published articles.
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20
Citations
856
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Recent Articles
1.
Johnson B, van Diggelen O, Dajnoki A, Bodamer O
Curr Protoc Hum Genet
. 2014 Feb;
79:17.14.1-17.14.9.
PMID: 24510650
Mucopolysaccharidosis type II (MPS II) is an X-linked lysosomal storage disorder caused by a deficiency of iduronate 2-sulfatase (IDS). Progressive, intralysosomal accumulation of the glycosaminoglycans (GAGs) dermatan and heparan sulfate...
2.
Oussoren E, Keulemans J, van Diggelen O, Oemardien L, Timmermans R, van der Ploeg A, et al.
Mol Genet Metab
. 2013 Jun;
109(4):377-81.
PMID: 23786846
Three major clinical subgroups are usually distinguished in Mucopolysaccharidosis type I: Hurler (MPS IH, severe presentation), Hurler-Scheie (MPS IH/S, intermediate) and Scheie (MPS IS, mild). To facilitate treatment with hematopoietic...
3.
Wood T, Harvey K, Beck M, Burin M, Chien Y, Church H, et al.
J Inherit Metab Dis
. 2013 Feb;
36(2):293-307.
PMID: 23371450
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement...
4.
Reuser A, Verheijen F, Bali D, van Diggelen O, Germain D, Hwu W, et al.
Mol Genet Metab
. 2011 Aug;
104(1-2):144-8.
PMID: 21831684
Dried blood spot (DBS) methods are currently available for identification of a range of lysosomal storage disorders (LSDs). These disorders are generally characterized by a deficiency of activity of a...
5.
Valstar M, Neijs S, Bruggenwirth H, Olmer R, Ruijter G, Wevers R, et al.
Ann Neurol
. 2010 Nov;
68(6):876-87.
PMID: 21061399
Objective: Mucopolysaccharidosis (MPS) IIIA (Sanfilippo syndrome type A) is a lysosomal storage disorder caused by deficiency of the enzyme sulfamidase. Information on the natural course of MPS IIIA is scarce,...
6.
Valstar M, Bertoli-Avella A, Wessels M, Ruijter G, de Graaf B, Olmer R, et al.
Hum Mutat
. 2010 Mar;
31(5):E1348-60.
PMID: 20232353
Mucopolysaccharidosis III D (Sanfilippo disease type D, MPS IIID) is a rare autosomal recessive lysosomal storage disorder previously described in only 20 patients. MPS IIID is caused by a deficiency...
7.
Feldhammer M, Durand S, Mrazova L, Boucher R, Laframboise R, Steinfeld R, et al.
Hum Mutat
. 2009 May;
30(6):918-25.
PMID: 19479962
Mucopolysaccharidosis (MPS) type IIIC or Sanfilippo syndrome type C is a rare autosomal recessive disorder caused by the deficiency of the lysosomal membrane enzyme, heparan sulfate acetyl-CoA (AcCoA): alpha-glucosaminide N-acetyltransferase...
8.
Massa R, Bruno C, Martorana A, De Stefano N, van Diggelen O, Federico A
Muscle Nerve
. 2007 Nov;
37(4):530-6.
PMID: 17994551
Adult polyglucosan body disease (APBD) is characterized by the accumulation of insoluble glucose polymers within the central and peripheral nervous systems. A common missense mutation in the glycogen branching enzyme...
9.
Frugier T, Mitchell N, Tammen I, Houweling P, Arthur D, Kay G, et al.
Neurobiol Dis
. 2007 Nov;
29(2):306-15.
PMID: 17988881
Batten disease (neuronal ceroid lipofuscinoses, NCLs) are a group of inherited childhood diseases that result in severe brain atrophy, blindness and seizures, leading to premature death. To date, eight different...
10.
Assereto S, van Diggelen O, Diogo L, Morava E, Cassandrini D, Carreira I, et al.
Biochem Biophys Res Commun
. 2007 Jul;
361(2):445-50.
PMID: 17662246
Glycogen branching enzyme deficiency (glycogen storage disease type IV, GSD-IV) is a rare autosomal recessive disorder of the glycogen synthesis with high mortality. Two female newborns showed severe hypotonia at...