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Literature DB >> 5581982

Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.

E Beutler, W Kuhl, F Trinidad, R Teplitz, H Nadler.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1971 PMID： 5581982 PMCID： PMC1706631

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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6 in total

1. METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

Authors: R O BRADY; J N KANFER; D SHAPIRO
Journal: Biochem Biophys Res Commun Date: 1965-01-18 Impact factor: 3.575

2. Detection of the defect of Gaucher's disease and its carrier state in peripheral-blood leucocytes.

Authors: E Beutler; W Kuhl
Journal: Lancet Date: 1970-03-21 Impact factor: 79.321

3. Detection of Gaucher's disease and its carrier state from fibroblast cultures.

Authors: E Beutler; W Kuhl; F Trinidad; R Teplitz; H Nadler
Journal: Lancet Date: 1970-08-15 Impact factor: 79.321

4. Role of amniocentesis in the intrauterine detection of genetic disorders.

Authors: H L Nadler; A B Gerbie
Journal: N Engl J Med Date: 1970-03-12 Impact factor: 91.245

5. Chromosomal distribution in interspecific invitro hybrid cells.

Authors: R L Teplitz; P E Gustafson; O L Pellett
Journal: Exp Cell Res Date: 1968-10 Impact factor: 3.905

6. Tissue acid hydrolase activities in Gaucher's disease.

Authors: P A Ockerman; P Köhlin
Journal: Scand J Clin Lab Invest Date: 1968 Impact factor: 1.713

6 in total

20 in total

1. Pitfalls in the use of artificial substrates for the diagnosis of Gaucher's disease.

Authors: Y Ben-Yoseph; H L Nadler
Journal: J Clin Pathol Date: 1978-11 Impact factor: 3.411

Review 2. Basic findings and current developments in sphingolipidoses.

Authors: H Pilz; R Heipertz; D Seidel
Journal: Hum Genet Date: 1979-03-12 Impact factor: 4.132

3. A microfluidic device with fluorimetric detection for intracellular components analysis.

Authors: Radosław Kwapiszewski; Maciej Skolimowski; Karina Ziółkowska; Elżbieta Jędrych; Michał Chudy; Artur Dybko; Zbigniew Brzózka
Journal: Biomed Microdevices Date: 2011-06 Impact factor: 2.838

4. Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene.

Authors: Talita E R Adelino; Gustavo G Martins; Aretta A A Gomes; Adriana A Torres; Daniel A S Silva; Vinícius D O Xavier; João Paulo O Guimarães; Sérgio S S Araújo; Rachel A F Fernandes; Maria Christina L A Oliveira; Ana Lúcia B Godard; Eugênia R Valadares
Journal: JIMD Rep Date: 2012-10-13

Review 5. Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.

Authors: Kenneth J Valenzano; Richie Khanna; Allan C Powe; Robert Boyd; Gary Lee; John J Flanagan; Elfrida R Benjamin
Journal: Assay Drug Dev Technol Date: 2011-06 Impact factor: 1.738

Review 6. Inborn errors of metabolism: principles and their applications.

Authors: L Pinksy
Journal: Can Med Assoc J Date: 1972-03-18 Impact factor: 8.262

7. Adult Gaucher's disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts.

Authors: M W Ho; J Seck; D Schmidt; M L Veath; W Johnson; R O Brady; J S O'Brien
Journal: Am J Hum Genet Date: 1972-01 Impact factor: 11.025