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Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency

Human mutation, 2003-05, Vol.21 (5), p.493-501

2003

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Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate

Pediatric research, 2003-10, Vol.54 (4), p.446-451

2003

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Functional and Structural Basis of Carnitine Palmitoyltransferase 1A Deficiency

The Journal of biological chemistry, 2003-12, Vol.278 (50), p.50428-50434

2003

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Molecular and Enzymatic Characterization of a Unique Carnitine Palmitoyltransferase 1A Mutation in the Hutterite Community

Molecular genetics and metabolism, 2001-05, Vol.73 (1), p.46-54

2001

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Carnitine Palmitoyltransferase Deficiencies

Molecular Genetics and Metabolism, 1999-12, Vol.68 (4), p.424-440

1999

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Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia

Human genetics, 2002-08, Vol.111 (2), p.179-189

2002

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Metabolism of pyrimidine bases and nucleosides by pyrimidine-nucleoside phosphorylases in cultured human lymphoid cells

Biochimica et biophysica acta, 1987-04, Vol.928 (2), p.130-136

1987

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Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach

Prenatal diagnosis, 2003-11, Vol.23 (11), p.884-887

2003

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Ligation of CD4 Surface Antigen Induces Rapid Tyrosine Phosphorylation of the Cytoskeletal Protein Ezrin

Cellular immunology, 1994-07, Vol.156 (2), p.322-331

1994

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Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis

Human mutation, 2000-07, Vol.16 (1), p.95-95

2000

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Purification and kinetic properties of human erythrocyte Mg2+-dependent inorganic pyrophosphatase

Biochimica et Biophysica Acta (BBA) - Enzymology, 1978-05, Vol.524 (1), p.198-206

Thuillier, L

1978

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The activation of protein kinase C is not necessary for the monoclonalantibody‐induced modulation of CD3 and CD4 antigens

European journal of immunology, 1990-05, Vol.20 (5), p.1197-1200

1990

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Purification of kinetic properties of human erythrocyte Mg 2+-dependent inorganic pyrophosphatase

BBA - Enzymology, 1978, Vol.524 (1), p.198-206

Thuillier, Laure

1978

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Opposing effects of protein tyrosine kinase inhibitors on the monoclonal antibody induced internalization of CD3 and CD4 antigens

European journal of immunology, 1991-10, Vol.21 (10), p.2641-2643

1991

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5′-Deoxy-5′-methylthioadenosine inhibition of rat T lymphocyte phosphodiesterase : Correlation with inhibition of Con A induced proliferation

Biochemical and biophysical research communications, 1983-06, Vol.113 (2), p.425-432

1983

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De novo purine and pyrimidine biosynthesis during thymocyte concanavalin A stimulation

Experimental cell research, 1982-10, Vol.141 (2), p.341-349

1982

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Inability of immunocompetent thymocytes to produce T-cell growth factor under adenosine deaminase deficiency conditions

Cellular immunology, 1981-09, Vol.63 (1), p.81-90

1981

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Consequences of adenosine deaminase deficiency on thymocyte metabolism

European journal of immunology, 1981, Vol.11 (10), p.788-794

1981

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Salvage of 5′-deoxy-methylthioadenosine into purines and methionine by lymphoid cells and inhibition of cell proliferation

Biochimica et biophysica acta, 1984-02, Vol.803 (1), p.7-10

1984

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Measurement of inorganic pyrophosphate in biological fluids and bone tissues

Analytical biochemistry, 1974-10, Vol.61 (2), p.416-428

1974

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Cytidine deaminase activity of human normal and malignant lymphoid cells

Clinica chimica acta, 1985-04, Vol.147 (2), p.67-74

1985

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CYTIDINE DEAMINASE DEFICIENCY AND IMMUNODEFICIENCY MORE THAN A COINCIDENCE ?: 155

Pediatric research, 1985-07, Vol.19 (7), p.769-769

1985

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Uridine as the only alternative to pyrimidine de novo synthesis in rat T lymphocytes

FEBS letters, 1982-11, Vol.148 (1), p.135-139

1982

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Consequences of the salvage of purine compounds on the proliferation of rat T-lymphocytes with normal or inhibited purine de novo synthesis

Biochimica et biophysica acta. General subjects, 1984-04, Vol.798 (3), p.343-349

1984

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Energy metabolism in adenosine deaminase-inhibited human erythrocytes

Clinica chimica acta, 1986-04, Vol.156 (1), p.61-69

1986

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Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency

Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate

Functional and Structural Basis of Carnitine Palmitoyltransferase 1A Deficiency

Molecular and Enzymatic Characterization of a Unique Carnitine Palmitoyltransferase 1A Mutation in the Hutterite Community

Carnitine Palmitoyltransferase Deficiencies

Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia

Metabolism of pyrimidine bases and nucleosides by pyrimidine-nucleoside phosphorylases in cultured human lymphoid cells

Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach

Ligation of CD4 Surface Antigen Induces Rapid Tyrosine Phosphorylation of the Cytoskeletal Protein Ezrin

Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis

Purification and kinetic properties of human erythrocyte Mg2+-dependent inorganic pyrophosphatase

The activation of protein kinase C is not necessary for the monoclonalantibody‐induced modulation of CD3 and CD4 antigens

Purification of kinetic properties of human erythrocyte Mg 2+-dependent inorganic pyrophosphatase

Opposing effects of protein tyrosine kinase inhibitors on the monoclonal antibody induced internalization of CD3 and CD4 antigens

5′-Deoxy-5′-methylthioadenosine inhibition of rat T lymphocyte phosphodiesterase : Correlation with inhibition of Con A induced proliferation

De novo purine and pyrimidine biosynthesis during thymocyte concanavalin A stimulation

Inability of immunocompetent thymocytes to produce T-cell growth factor under adenosine deaminase deficiency conditions

Consequences of adenosine deaminase deficiency on thymocyte metabolism

Salvage of 5′-deoxy-methylthioadenosine into purines and methionine by lymphoid cells and inhibition of cell proliferation

Measurement of inorganic pyrophosphate in biological fluids and bone tissues

Cytidine deaminase activity of human normal and malignant lymphoid cells

CYTIDINE DEAMINASE DEFICIENCY AND IMMUNODEFICIENCY MORE THAN A COINCIDENCE ?: 155

Uridine as the only alternative to pyrimidine de novo synthesis in rat T lymphocytes

Consequences of the salvage of purine compounds on the proliferation of rat T-lymphocytes with normal or inhibited purine de novo synthesis

Energy metabolism in adenosine deaminase-inhibited human erythrocytes

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