Early prenatal diagnosis of inherited severe immunodeficiencies linked to enzyme deficiencies.

Pérignon, J L; Durandy, A; Peter, M O; Freycon, F; Dumez, Y; Griscelli, C

Pérignon, J L; Durandy, A; Peter, M O; Freycon, F; Dumez, Y; Griscelli, C.

Affiliation

Pérignon JL; Département de Biochimie, INSERM U75, Faculté de Médecine Necker-Enfants Malades, Paris, France.

J Pediatr ; 111(4): 595-8, 1987 Oct.

Article in En | MEDLINE | ID: mdl-3116192

Subject(s)

Fetal Diseases/diagnosis; Immunologic Deficiency Syndromes/diagnosis; Prenatal Diagnosis; Purine-Pyrimidine Metabolism, Inborn Errors/diagnosis; Adenine Phosphoribosyltransferase/deficiency; Adenosine Deaminase/deficiency; Antibodies, Monoclonal; Chorionic Villi/enzymology; Clinical Enzyme Tests; Female; Humans; Hypoxanthine Phosphoribosyltransferase/deficiency; Immunologic Deficiency Syndromes/complications; Infant; Leukocyte Count; Lymphocyte Activation; Lymphocytes/classification; Orotidine-5'-Phosphate Decarboxylase/deficiency; Pregnancy; Purine-Nucleoside Phosphorylase/deficiency; Purine-Pyrimidine Metabolism, Inborn Errors/complications; Purine-Pyrimidine Metabolism, Inborn Errors/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Prenatal Diagnosis / Purine-Pyrimidine Metabolism, Inborn Errors / Fetal Diseases / Immunologic Deficiency Syndromes Type of study: Diagnostic_studies Limits: Female / Humans / Infant / Pregnancy Language: En Journal: J Pediatr Year: 1987 Document type: Article Affiliation country: France Country of publication: United States

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