-transparent.png){kind=logo}
Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal alpha-glucosidase resulting in lysosomal accumulation of glycogen. The disease is inherited as an autosomal recessive trait and is clinically heterogeneous. Early and late onset phenotypes are distinguished. Insight in the molecular nature of the lysosomal alpha-glucosidase deficiency and the underlying genetic defect has increased significantly during the past decade. This minireview on GSD II was written at the occasion of The International Symposium on Glycolytic and Mitochondrial Defects in Muscle and Nerve, held in Osaka, Japan, July 1994. It is an update of current literature, but also includes original data from the collaborating authors on mutations occurring in the lysosomal alpha-glucosidase gene and on prenatal diagnosis by chorionic villus sampling. The genotype-phenotype correlation and the prospects for therapy are addressed.
A J Reuser, and
M A Kroos, and
M M Hermans, and
A G Bijvoet, and
M P Verbeet, and
O P Van Diggelen, and
W J Kleijer, and
A T Van der Ploeg
January 1995,
Muscle & nerve. Supplement,
A J Reuser, and
M A Kroos, and
M M Hermans, and
A G Bijvoet, and
M P Verbeet, and
O P Van Diggelen, and
W J Kleijer, and
A T Van der Ploeg
December 1977,
Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie,
A J Reuser, and
M A Kroos, and
M M Hermans, and
A G Bijvoet, and
M P Verbeet, and
O P Van Diggelen, and
W J Kleijer, and
A T Van der Ploeg
November 1976,
Journal of the neurological sciences,
A J Reuser, and
M A Kroos, and
M M Hermans, and
A G Bijvoet, and
M P Verbeet, and
O P Van Diggelen, and
W J Kleijer, and
A T Van der Ploeg
August 1978,
Clinica chimica acta; international journal of clinical chemistry,
A J Reuser, and
M A Kroos, and
M M Hermans, and
A G Bijvoet, and
M P Verbeet, and
O P Van Diggelen, and
W J Kleijer, and
A T Van der Ploeg
December 1995,
Nihon rinsho. Japanese journal of clinical medicine,
A J Reuser, and
M A Kroos, and
M M Hermans, and
A G Bijvoet, and
M P Verbeet, and
O P Van Diggelen, and
W J Kleijer, and
A T Van der Ploeg
March 1978,
EEG-EMG Zeitschrift fur Elektroenzephalographie, Elektromyographie und verwandte Gebiete,
A J Reuser, and
M A Kroos, and
M M Hermans, and
A G Bijvoet, and
M P Verbeet, and
O P Van Diggelen, and
W J Kleijer, and
A T Van der Ploeg
January 1981,
Clinical genetics,
A J Reuser, and
M A Kroos, and
M M Hermans, and
A G Bijvoet, and
M P Verbeet, and
O P Van Diggelen, and
W J Kleijer, and
A T Van der Ploeg
October 1981,
Neurology,
A J Reuser, and
M A Kroos, and
M M Hermans, and
A G Bijvoet, and
M P Verbeet, and
O P Van Diggelen, and
W J Kleijer, and
A T Van der Ploeg
January 1986,
Pediatric neurology,
A J Reuser, and
M A Kroos, and
M M Hermans, and
A G Bijvoet, and
M P Verbeet, and
O P Van Diggelen, and
W J Kleijer, and
A T Van der Ploeg
January 1966,
Pediatrie,
