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Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan Anemia: Wide Variations in Phenotypic Expression

Blood, 1999-12, Vol.94 (12), p.4294-4306

1999

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Bone marrow gene transfer in three patients with adenosine deaminase deficiency

Gene therapy, 1996-02, Vol.3 (2), p.179

1996

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Adenosine deaminase 1 deficiency, an inborn error of metabolism underlying a severe form of combined immunodeficiency

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2015-06, Vol.22 (6), p.630-635

2015

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Diagnosis of molybdenum cofactor deficiency

The Lancet (British edition), 1999-02, Vol.353 (9153), p.675-675

1999

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Déficit complet en adénosine-désaminase-1 : une erreur innée du métabolisme responsable d’un déficit immunitaire combiné sévère

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2015-06, Vol.22 (6), p.630-635

2015

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High adenosine deaminase level among healthy probands of Diamond Blackfan Anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13

Blood, 1998-12, Vol.92 (11), p.4422-4427

1998

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2,8-dihydroxyadenine urolithiasis, an underdiagnosed disease

The Lancet (British edition), 1992-04, Vol.339 (8800), p.1050-1051

1992

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Mechanisms of defense against P. falciparum asexual blood stages in humans

Immunology letters, 1994-07, Vol.41 (2), p.115-120

1994

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How reliable are models for malaria vaccine development? Lessons from irradiated sporozoite immunizations

Journal of postgraduate medicine (Bombay), 2006-10, Vol.52 (4), p.321-324

2006

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Prise en charge thérapeutique du syndrome de Lesch-Nyhan en France : enquête sur 16 patients

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2006-09, Vol.13 (9), p.1266-1267

2006

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Immune mechanisms underlying the premunition against Plasmodium falciparum malaria

Memórias do Instituto Oswaldo Cruz, 1994, Vol.89 Suppl 2 (suppl 2), p.51-53

1994

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The activation of protein kinase C is not necessary for the monoclonal antibody-induced modulation of CD3 and CD4 antigens

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

1990

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Quel vaccin contre le paludisme?

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 1996, Vol.3, p.S334-S335

1996

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Influence of adenosine deaminase inhibition on the phosphoinositide turnover in the initial stages of human T cell activation

European journal of immunology, 1990-03, Vol.20 (3), p.611-615

1990

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Methylthioadenosine toxicity and metabolism to methionine in mammalian cells

Biochemical journal, 1988-10, Vol.255 (1), p.145-152

1988

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Familial hypermethioninemia partially responsive to dietary restriction

The Journal of pediatrics, 1990-08, Vol.117 (2), p.220-226

1990

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Malaria from Africa blows hot and cold

Nature medicine, 1999-03, Vol.5 (3), p.272-273

1999

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Early prenatal diagnosis of inherited severe immunodeficiencies linked to enzyme deficiencies

The Journal of pediatrics, 1987-10, Vol.111 (4), p.595,IN1-598,IN2

1987

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Megaloblastic Anemia and Immune Abnormalities in a Patient with Methionine Synthase Deficiency

Acta Paediatrica, 1987-11, Vol.76 (6), p.991-998

1987

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Genetic expression in partial adenosine deaminase deficiency. mRNA levels and protein turnover for the enzyme variants in human B-lymphoblast cell lines

The Journal of biological chemistry, 1985-03, Vol.260 (6), p.3875-3880

1985

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A new case of methylmalonic aciduria with unexplained negative urinary methylmalonic colorimetric test

Journal of inherited metabolic disease, 1986-12, Vol.9 (4), p.408-409

1986

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In vivo veritas: lessons from immunoglobulin-transfer experiments in malaria patients

Annals of tropical medicine and parasitology, 1997-03, Vol.91 (sup1), p.S37-S53

1997

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A protein kinase C inhibitory activity is present in the human T lymphoblast cell line Jurkat

Immunology letters, 1991-11, Vol.30 (3), p.297-300

1991

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T-cell antigen receptor-mediated enhancement of the adenylate cyclase pathway depends on tyrosine protein kinases

International journal of immunopharmacology, 1993-04, Vol.15 (3), p.415-422

1993

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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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Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan Anemia: Wide Variations in Phenotypic Expression

Bone marrow gene transfer in three patients with adenosine deaminase deficiency

Adenosine deaminase 1 deficiency, an inborn error of metabolism underlying a severe form of combined immunodeficiency

Diagnosis of molybdenum cofactor deficiency

Déficit complet en adénosine-désaminase-1 : une erreur innée du métabolisme responsable d’un déficit immunitaire combiné sévère

High adenosine deaminase level among healthy probands of Diamond Blackfan Anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13

2,8-dihydroxyadenine urolithiasis, an underdiagnosed disease

Mechanisms of defense against P. falciparum asexual blood stages in humans

How reliable are models for malaria vaccine development? Lessons from irradiated sporozoite immunizations

Prise en charge thérapeutique du syndrome de Lesch-Nyhan en France : enquête sur 16 patients

Immune mechanisms underlying the premunition against Plasmodium falciparum malaria

The activation of protein kinase C is not necessary for the monoclonal antibody-induced modulation of CD3 and CD4 antigens

Quel vaccin contre le paludisme?

Influence of adenosine deaminase inhibition on the phosphoinositide turnover in the initial stages of human T cell activation

Methylthioadenosine toxicity and metabolism to methionine in mammalian cells

Familial hypermethioninemia partially responsive to dietary restriction

Malaria from Africa blows hot and cold

Early prenatal diagnosis of inherited severe immunodeficiencies linked to enzyme deficiencies

Megaloblastic Anemia and Immune Abnormalities in a Patient with Methionine Synthase Deficiency

Genetic expression in partial adenosine deaminase deficiency. mRNA levels and protein turnover for the enzyme variants in human B-lymphoblast cell lines

A new case of methylmalonic aciduria with unexplained negative urinary methylmalonic colorimetric test

In vivo veritas: lessons from immunoglobulin-transfer experiments in malaria patients

A protein kinase C inhibitory activity is present in the human T lymphoblast cell line Jurkat

T-cell antigen receptor-mediated enhancement of the adenylate cyclase pathway depends on tyrosine protein kinases

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

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