The use of leucocytes as an aid in the diagnosis of glycogen storage disease type II (Pompe's disease)
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference8 articles.
1. Choice of leucocyte preparation in the diagnosis of glycogen storage disease type II (pompe's disease)
2. Diagnosis of generalized glycogen storage disease (Pompe's disease)
3. α-1,4-Glucosidase Activity in Leucocytes from the Family of Two Brothers Who Lack this Enzyme in Muscle
4. The Use of Leucocytes as an Aid in the Diagnosis of a Variant of Glycogen Storage Disease Type II (Pompe's Disease)
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1. The use of dried blood spot samples in the diagnosis of lysosomal storage disorders — Current status and perspectives;Molecular Genetics and Metabolism;2011-09
2. Identification of heterozygotes for glycogenosis 2 (Acid maltase deficiency);Clinical Genetics;2008-04-23
3. Pompe's disease: Diagnosis in kidney and leucocytes using 4-methylumbelliferyl-α-D-glucopyranoside;Clinical Genetics;2008-04-23
4. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting;Molecular Genetics and Metabolism;2008-03
5. A new diagnostic assay for glycogen storage disease type II in mixed leukocytes;Molecular Genetics and Metabolism;2006-05
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