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List of works by Yoav Ben-Yoseph

A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online

scientific article published on 01 January 1998

Abnormal breakdown of α2-macroglobulin-trypsin complex in cystic fibrosis ⬇️

scientific article published on August 1, 1977

Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy

scientific article published on December 1987

Antibody-mediated thermal stabilization of human hexosaminidases

scientific article published on March 1, 1975

Apparently normal extracellular acidic alpha-mannosidase in fibroblast cultures from patients with mannosidosis

scientific article

Binding of human liver hydrolases by immobilized lectins ⬇️

scientific article published on January 1, 1979

Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases

scientific article published on 01 November 1999

Carbonic anhydrase B concentration of erythrocytes in chronic renal failure

scientific article published on 01 April 1972

Catalytically defective ganglioside neuraminidase in mucolipidosis IV

scientific article published on 01 June 1982

Characterization of the mutant N-acetylglucosaminylphosphotransferase in I-cell disease and pseudo-Hurler polydystrophy: complementation analysis and kinetic studies

scientific article published on 01 January 1986

Cord blood carbonic anhydrase B concentration and birth weight

scientific article published on July 1, 1972

Correction of γ-Glutamyl Transpeptidase Deficiency in Amniotic Fluid of Some Cystic Fibrosis Fetuses by Mixing with Nondeficient Fluids

scientific article published on 01 December 1984

Decreased formation of α2-macroglobulin-protease complexes in plasma of patients with cystic fibrosis ⬇️

scientific article published on August 9, 1976

Decreased sialic acid and altered binding to lectins of purified α2-macroglobulin from patients with cystic fibrosis ⬇️

scientific article published on November 15, 1979

Deficient phosphorylation of mannose residues of mannan in fibroblasts of patients with mucolipidoses II and III ⬇️

scientific article published on February 1, 1981

Demonstration of altered acidic hydrolases in fibroblasts from patients with mucolipidosis II by lectin titration ⬇️

scientific article published on June 15, 1979

Detection of Krabbe disease using tritiated galactosylceramides with medium-chain fatty acids

scientific article

Detection of kinetically abnormal argininosuccinate synthase in neonatal citrullinemia by conversion of citrulline to arginine in intact fibroblasts

scientific article published on 01 August 1989

Determination of trypsin activity in human intestinal contents by hydrolysis of benzoyl-DL-arginine p-nitroanlide

scientific article published on 01 September 1970

Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate ⬇️

scientific article published on July 1, 1985

Discrimination between metachromatic leukodystrophy and pseudo-deficiency of arylsulfatase A by restriction digest of amplified gene fragments

scientific article published on 01 February 1995

Dissociation of erythrocyte catalase into subunits and their re-association ⬇️

scientific article published on April 15, 1975

Enzymatically inactive red cell carbonic anhydrase B in a family with renal tubular acidosis

scientific article

Erythrocyte carbonic anhydrase B levels during pregnancy and use of oral contraceptives

scientific article published on 01 February 1972

First trimester maternal serum lysosomal enzymes: implications for carrier testing and prenatal diagnosis

scientific article published in January 1989

First trimester prenatal evaluation for I-cell disease by N-acetyl-glucosamine 1-phosphotransferase assay

scientific article published on 01 January 1988

Further purification of the mitochondrial inner membrane autoantigen reacting with primary biliary cirrhosis sera

scientific article

Galactosylceramide beta-galactosidase in Krabbe disease: partial purification and characterization of the mutant enzyme

scientific article published on 01 August 1979

Gaucher type 2 disease: Identification of a novel transversion mutation in a French-Irish patient ⬇️

scientific article published on June 16, 1998

Immunological evidence for substrate-induced conformational alterations in human carbonic anhydrase B ⬇️

scientific article published on August 25, 1976

Immunological relationships among hexosaminidases of different species ⬇️

scientific article published on June 1, 1976

Intrauterine fetal death due to Farber disease: case report

scientific article published on November 2000

Km defect in neuraminidase of dysmorphic type sialidosis with and without beta-galactosidase deficiency

scientific article published on 01 August 1982

Lactosyl ceramidosis: Deficient activity of neutral β-Galactsidase in liver and cultivated fibroblasts? ⬇️

scientific article published on September 15, 1978

Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease.

scientific article published in July 1989

Low levels of beta hexosaminidase A in healthy individuals with apparent deficiency of this enzyme ⬇️

scientific article published on July 1, 1976

Lysosomal enzyme activities in fresh and frozen chorionic villi and in cultured trophoblasts

scientific article published on 01 December 1986

Mannosylation of glycoproteins and dolichol derivatives in fibroblasts from patients with cystic fibrosis ⬇️

scientific article published on 01 October 1982

Maternal serum hexosaminidase A in pregnancy: effects of gestational age and fetal genotype

scientific article published on 01 April 1988

Molecular size of N-acetylglucosaminylphosphotransferase and alpha-N-acetylglucosaminyl phosphodiesterase as determined in situ in Golgi membranes by radiation inactivation

scientific article published on May 1986

Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic mutations ⬇️

scientific article published on January 1, 1992

Multiple carbohydrate-cleaving specificities in human acidic and neutral glycosidases ⬇️

scientific article published on June 6, 1979

Nature of residual erythrocyte catalase activity in Swiss-type acatalasemia

scientific article published on 01 January 1974

Normal two-dimensional gel electrophoresis of alpha-2-macroglobulin in cystic fibrosis ⬇️

scientific article published on March 1, 1980

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

scientific article published on November 1, 1978

Prenatal diagnosis of I-cell disease in the first and second trimesters

scientific article published on 01 June 1989

Proceedings: Immunochemical studies of hexosaminidases

scientific article published on 01 December 1975

Proceedings: Purification and characterization of human hexosaminidases

scientific article published on November 1, 1975

Purification and properties of neutral β-galactosidases from human liver ⬇️

scientific article published on December 1, 1977

Purification of human hexosaminidases A and B by affinity chromatography

scientific article published on 01 September 1974

Quantitation of the enzymically deficient cross reacting material in GM1 gangliosidoses ⬇️

scientific article published on November 1, 1977

Quantitative determination of human carbonic anhydrase B isozyme

scientific article published on 01 September 1971

Radiometric assays of N-acetylglucosaminylphosphotransferase and α-N-acetylglucosaminyl phosphodiesterase with substrates labeled in the glucosamine moiety ⬇️

scientific article published on 01 November 1984

Rapid detection of common metachromatic leukodystrophy mutations by restriction analysis of arylsulfatase A gene amplimers

scientific article published on 01 April 1994

Soluble and membranous neutral beta-glucosidases

scientific article published on 01 January 1982

Specific determination of N-acetyl-beta-D-hexosaminidase isozymes A and B by radioimmunoassay and radial immunodiffusion

scientific article published on 01 August 1975

Specific immunoassay for quantitative determination of human erythrocyte catalase

scientific article published on 01 January 1973

Stabilizing effect of anti-normal erythrocyte catalase antibody on the labile catalase variant present in Swiss-type acatalasemia

scientific article published in November 1973

Stimulation of G(M3) Ganglioside Sialidase Activity by an Activator Protein in Patients with Mucolipidosis IV and Controls ⬇️

scientific article published on 01 January 1991

Substrate-specificities of acid and alkaline ceramidases in fibroblasts from patients with Farber disease and controls

scientific article

The Metabolism of Sialic Acid in Cystic Fibrosis ⬇️

scientific article published on 01 May 1981

The interrelations between high- and low-molecular weight forms of normal and mutant (Krabbe-disease) galactocerebrosidase

scientific article published on July 1980

The nature of mutation in Krabbe disease ⬇️

scientific article published on November 1, 1978

Thermal activation of hexosaminidase A in a genetic compound with Tay‐Sachs disease ⬇️

scientific article published on January 1, 1983

Two immunologically distinct human acidic beta-galactosidase A isozymes

scientific article published on 01 January 1977

Wolman disease successfully treated by bone marrow transplantation

scientific article published in September 2000

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