Activator protein-deficient metachromatic leukodystrophy: Diagnosis in leukocytes using immunologic methods
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference10 articles.
1. Immunological evidence for deficiency in an activator protein for sulfatide sulfatase in a variant from of metachromatic leukodystrophy;Inui;Proc Natl Acad Sci USA,1983
2. AB variant of infantile GM2 gangliosidosis: Deficiency of a factor necessary for stimula tion of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2;Conzelmann;Proc Natl Acad Sci USA,1978
3. Deficiency of the hexosaminidase activator protein in case of GM2 gangliosidosis, variant AB;Hechtman;Pediatr Res,1982
4. Metachromatic leukodystrophy without arylsulfatase A deficiency;Shapiro;Pediatr Res,1979
5. Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy;Stevens;Am J Hum Genet,1981
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1. Unraveling the diagnostic enigma: laboratory diagnosis of sphingolipid activator protein deficiencies;Journal of Laboratory and Precision Medicine;2024-07
2. The Cerebroside Sulfate Activator(Saposin B, SAP-1): A Many Faceted Protein.;Trends in Glycoscience and Glycotechnology;1995
3. Fluorophore-assisted electrophoresis of urinary carbohydrates for the identification of patients with oligosaccharidosis-and mucopolysaccharidosis-type lysosomal storage diseases;Glycosylation & Disease;1994-07
4. Molecular genetics of metachromatic leukodystrophy;Human Mutation;1994
5. Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical and immunological study;European Journal of Pediatrics;1991-06
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