Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

[1]  R Higuchi,et al.  Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. , 2013, BioTechniques.

[2]  A. Reuser,et al.  Recombinant Human Acid α-Glucosidase: High Level Production in Mouse Milk, Biochemical Characteristics, Correction of Enzyme Deficiency in GSDII KO Mice , 1998 .

[3]  W. Rom,et al.  Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. , 1998, American journal of medical genetics.

[4]  J. V. Van Hove,et al.  Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail. , 1998, The Journal of clinical investigation.

[5]  N. Raben,et al.  A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II). , 1996, Human molecular genetics.

[6]  J. Smeitink,et al.  Homozygous deletion of exon 18 leads to degradation of the lysosomal α‐glucosidase precursor and to the infantile form of glycogen storage disease type II , 1996, Clinical genetics.

[7]  A. Reuser,et al.  Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. , 1995, Journal of Medical Genetics.

[8]  A. Reuser,et al.  Genotype‐phenotype correlation in adult‐onset acid maltase deficiency , 1995, Annals of neurology.

[9]  C. Boerkoel,et al.  Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. , 1995, American journal of human genetics.

[10]  S. Dimauro,et al.  Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation. , 1994, Human molecular genetics.

[11]  B. Oostra,et al.  The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II , 1994 .

[12]  A. Reuser,et al.  Deletion of exon 18 is a frequent mutation in glycogen storage disease type II. , 1994, Biochemical and biophysical research communications.

[13]  S. Brooks,et al.  A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). , 1994, Human molecular genetics.

[14]  C. Boerkoel,et al.  Genetic defects in patients with glycogenosis type II (acid maltase deficiency) , 1995, Muscle & nerve. Supplement.

[15]  A. Reuser,et al.  Glycogenosis type II (acid maltase deficiency) , 1995, Muscle & nerve. Supplement.

[16]  R. Mahler.  Glycogen storage diseases , 1969 .