Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II.

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Title:	Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II.
Author(s):	Ausems, M.G.E.M.; Kroos, M.A.; Kraan, M. van der; Smeitink, J.A.M. ; Kleijer, W.J.; Ploos van Amstel, J.K.; Reuser, A.J.J.
Publication year:	1996
Source:	Clinical Genetics, vol. 49, iss. 6, (1996), pp. 325-328
ISSN:	0009-9163
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/24033
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Subject:	Central Nervous System Chemistry, Clinical Energy Metabolism Fibroblasts Genetics, Biochemical Hereditary Diseases Homocystinuria Mental Disorders Metabolic Diseases Metabolic Processes (Non MeSH) Metabolism, Inborn Errors Mitochondria Mitochondrial Myopathies Muscle, Skeletal Mutation Neural Tube Defects Neuromuscular Diseases Pregnancy Complications, Cardiovascular Vascular Diseases
Organization:	Paediatrics
Journal title:	Clinical Genetics
Volume:	vol. 49
Issue:	iss. 6
Page start:	p. 325
Page end:	p. 328
Languages used:	en

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