The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes
- PMID: 5477334
The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes
Similar articles
-
[Laboratory diagnosis of Gaucher's disease. Value of leukocyte beta-glucosidase determination].Nouv Presse Med. 1972 Jun 3;1(23):1579-81. Nouv Presse Med. 1972. PMID: 5035886 French. No abstract available.
-
Beta-glucosidase activity as a diagnostic index of Gaucher's disease.S Afr Med J. 1974 Jun 8;48(27):1150-2. S Afr Med J. 1974. PMID: 4417432 No abstract available.
-
Gaucher type I (Ashkenazi) disease: considerations for heterozygote detection and prenatal diagnosis.Prog Clin Biol Res. 1982;95:573-95. Prog Clin Biol Res. 1982. PMID: 6812087 No abstract available.
-
Gaucher's disease: a review for the internist and hepatologist.Hepatogastroenterology. 2000 Jul-Aug;47(34):984-97. Hepatogastroenterology. 2000. PMID: 11020862 Review.
-
A practical approach to diagnosis and management of Gaucher's disease.Baillieres Clin Haematol. 1997 Dec;10(4):817-38. doi: 10.1016/s0950-3536(97)80042-x. Baillieres Clin Haematol. 1997. PMID: 9497866 Review.
Cited by
-
Properties of beta-glucosidase in cultured skin fibroblasts from controls and patients with Gaucher disease.Am J Hum Genet. 1978 Jul;30(4):346-58. Am J Hum Genet. 1978. PMID: 102189 Free PMC article.
-
Multiple glycosidase deficiencies in a case of juvenile (type 3) Gaucher disease.Proc Natl Acad Sci U S A. 1978 May;75(5):2448-52. doi: 10.1073/pnas.75.5.2448. Proc Natl Acad Sci U S A. 1978. PMID: 27787 Free PMC article.
-
Esophageal varices in a 60-year-old man with Gaucher's disease.Am J Dig Dis. 1974 Jun;19(6):565-70. doi: 10.1007/BF01072744. Am J Dig Dis. 1974. PMID: 4829381 No abstract available.
-
Gaucher disease. III. Substrate specificity of glucocerebrosidase and the use of nonlabeled natural substrates for the investigation of patients.Am J Hum Genet. 1980 Sep;32(5):670-80. Am J Hum Genet. 1980. PMID: 6775530 Free PMC article.
-
Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene.JIMD Rep. 2013;9:85-91. doi: 10.1007/8904_2012_184. Epub 2012 Oct 13. JIMD Rep. 2013. PMID: 23430552 Free PMC article.
MeSH terms
Substances
LinkOut - more resources
Medical