Adenylosuccinate lyase deficiency--first British case.

Marinaki, A M; Champion, M; Kurian, M A; Simmonds, H A; Marie, S; Vincent, M F; van den Berghe, G; Duley, J A; Fairbanks, L D

Marinaki, A M; Champion, M; Kurian, M A; Simmonds, H A; Marie, S; Vincent, M F; van den Berghe, G; Duley, J A; Fairbanks, L D.

Affiliation

Marinaki AM; Purine Research Lab and Paediatric Department, Guy's Hospital, London, UK.

Nucleosides Nucleotides Nucleic Acids ; 23(8-9): 1231-3, 2004 Oct.

Article in En | MEDLINE | ID: mdl-15571235

Subject(s)

Adenosine/analogs & derivatives; Adenylosuccinate Lyase/deficiency; Adenylosuccinate Lyase/genetics; Aminoimidazole Carboxamide/analogs & derivatives; Purine-Pyrimidine Metabolism, Inborn Errors/diagnosis; Purine-Pyrimidine Metabolism, Inborn Errors/genetics; Adenosine/blood; Adenosine/cerebrospinal fluid; Adenosine/urine; Aminoimidazole Carboxamide/blood; Aminoimidazole Carboxamide/cerebrospinal fluid; Aminoimidazole Carboxamide/urine; Catalysis; Exons; Fatal Outcome; Female; Heterozygote; Humans; Infant, Newborn; Mutation; Phenotype; Purines/metabolism; Ribonucleotides/blood; Ribonucleotides/cerebrospinal fluid; Ribonucleotides/urine

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Collection: 01-internacional Database: MEDLINE Main subject: Purine-Pyrimidine Metabolism, Inborn Errors / Adenosine / Adenylosuccinate Lyase / Aminoimidazole Carboxamide Limits: Female / Humans / Newborn Language: En Journal: Nucleosides Nucleotides Nucleic Acids Journal subject: BIOQUIMICA Year: 2004 Document type: Article Affiliation country: United kingdom Country of publication: United States

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