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89 results

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, Wevers RA, Poorthuis BJ, Pshezhetsky AV, Wijburg FA

Molecular genetics and metabolism, 2008 Feb

NCBI: 18024218

Increased aortic stiffness in glycogenosis type 2 (Pompe's disease).

Nemes A, Soliman OI, Geleijnse ML, Anwar AM, van der Beek NA, van Doorn PA, Gavallér H, Csajbók E, ten Cate FJ

International journal of cardiology, 2007 Aug 09

NCBI: 17084921

[From gene to disease; Krabbe disease and galactosylceramidase deficiency].

Kleijer WJ, van Diggelen OP, Halley DJ, van der Ploeg AT, Mancini GM

Nederlands tijdschrift voor geneeskunde, 2004 Apr 24

NCBI: 15141649

Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.

Hermans MM, van Leenen D, Kroos MA, Beesley CE, Van Der Ploeg AT, Sakuraba H, Wevers R, Kleijer W, Michelakakis H, Kirk EP, Fletcher J, Bosshard N, Basel-Vanagaite L, Besley G, Reuser AJ

Human mutation, 2004 Jan

NCBI: 14695532

Plasmalemmal vesicles are involved in transendothelial transport of albumin, lysosomal enzymes and mannose 6-phosphate receptor fragments in capillary endothelium.

Willemsen R, Wisselaar HA, van der Ploeg AT

European journal of cell biology, 1990 Apr

NCBI: 2161765