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Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene.

Petit, F; Gajdos, V; Capel, L; Parisot, F; Myara, A; Francoual, J; Labrune, P.

Clin Genet ; 69(6): 525-7, 2006 Jun.

Article in English | MEDLINE | ID: mdl-16712705

Subject(s)

Crigler-Najjar Syndrome/genetics , Genetic Heterogeneity , Glucuronosyltransferase/genetics , Mutation , Amino Acid Substitution/genetics , Child, Preschool , Crigler-Najjar Syndrome/classification , Humans , Infant , Point Mutation , Sequence Deletion

Allelic heterogeneity of Crigler-Najjar type I syndrome: a study of 24 cases.

Petit, F M; Gajdos, V; Francoual, J; Capel, L; Parisot, F; Poüs, C; Labrune, P.

Clin Genet ; 66(6): 571-2, 2004 Dec.

Article in English | MEDLINE | ID: mdl-15521991

Subject(s)

Crigler-Najjar Syndrome/genetics , Hyperbilirubinemia, Hereditary/genetics , Glucuronosyltransferase/genetics , Humans , Infant, Newborn , Mutation

Simple column liquid chromatographic assay for serum neopterin.

Candito, M; Cavenel, C; Gugenheim, J; Mouiel, J; Parisot, F; Jacomet, Y; Sudaka, P; Chambon, P.

J Chromatogr ; 614(1): 164-8, 1993 Apr 21.

Article in English | MEDLINE | ID: mdl-8496278

ABSTRACT

A simple high-performance liquid chromatographic assay for serum neopterin with highly sensitive fluorimetric detection (limit 1 nM) is proposed. Comparison with results obtained by radioimmunoassay revealed a good correlation between the two techniques. The potential use of this method for the follow-up of liver transplant patients is discussed.

Subject(s)

Biopterins/analogs & derivatives , Chromatography, High Pressure Liquid/methods , Adult , Biopterins/blood , Biopterins/chemistry , Female , Humans , Liver Transplantation , Male , Molecular Structure , Neopterin , Radioimmunoassay , Spectrometry, Fluorescence

[Increase of excretion of urinary catecholamines and its catabolites in a case of pulmonary sarcomatous tumor]. / Elévation de l'excrétion des catécholamines urinaires et de leurs catabolites dans le cas d'une tumeur sarcomateuse pulmonaire.

Candito, M; Bekri, S; Monpoux, P; Parisot, F; Mariani, R; Chambon, P.

Pathol Biol (Paris) ; 40(10): 1003-5, 1992 Dec.

Article in French | MEDLINE | ID: mdl-1299807

ABSTRACT

A five-year-old child presented with a large undifferentiated sarcoma in the right lung. Urinary catecholamines were assayed as tumor markers. A short-lived but significant rise in urinary norepinephrine and dopamine followed by rises in urinary levels of corresponding breakdown products were evidenced.

Subject(s)

Dopamine/urine , Epinephrine/urine , Lung Neoplasms/urine , Norepinephrine/urine , Sarcoma/urine , Child, Preschool , Homovanillic Acid/urine , Humans , Male , Normetanephrine/urine

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