AAAAAA

   
Results: 1-8 |
Results: 8
Multiple acyl-CoA-dehydrogenase deficiency (MADD): Use of acylcarnitines and fatty acids to monitor the response to dietary treatment
Authors: Abdenur, JE Chamoles, NA Schenone, AB Jorge, L Guinle, A Bernard, C Levandovskiy, V Fusta, M Lavorgna, S
Citation: Je. Abdenur et al., Multiple acyl-CoA-dehydrogenase deficiency (MADD): Use of acylcarnitines and fatty acids to monitor the response to dietary treatment, PEDIAT RES, 50(1), 2001, pp. 61-66
Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filterpaper: The possibility of newborn diagnosis
Authors: Chamoles, NA Blanco, M Gaggioli, D
Citation: Na. Chamoles et al., Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filterpaper: The possibility of newborn diagnosis, CLIN CHEM, 47(4), 2001, pp. 780-781
Hurler-like phenotype: Enzymatic diagnosis in dried blood spots on filter paper
Authors: Chamoles, NA Blanco, MB Gaggioli, D Casentini, C
Citation: Na. Chamoles et al., Hurler-like phenotype: Enzymatic diagnosis in dried blood spots on filter paper, CLIN CHEM, 47(12), 2001, pp. 2098-2102
Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filterpaper: The possibility of newborn diagnosis (vol 47, pg 780, 2001)
Authors: Chamoles, NA Blanco, M Gaggiolo, D
Citation: Na. Chamoles et al., Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filterpaper: The possibility of newborn diagnosis (vol 47, pg 780, 2001), CLIN CHEM, 47(12), 2001, pp. 2192-2192
Retrospective diagnosis of GM1 gangilosidosis by use of a newborn-screening card
Authors: Chamoles, NA Blanco, MB Iorcansky, S Gaggioli, D Specola, N Casentini, C
Citation: Na. Chamoles et al., Retrospective diagnosis of GM1 gangilosidosis by use of a newborn-screening card, CLIN CHEM, 47(11), 2001, pp. 2068-2068
Fabry disease: enzymatic diagnosis in dried blood spots on filter paper
Authors: Chamoles, NA Blanco, M Gaggioli, D
Citation: Na. Chamoles et al., Fabry disease: enzymatic diagnosis in dried blood spots on filter paper, CLIN CHIM A, 308(1-2), 2001, pp. 195-196
Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias
Authors: Bonafe, L Troxler, H Kuster, T Heizmann, CW Chamoles, NA Burlina, AB Blau, N
Citation: L. Bonafe et al., Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias, MOL GEN MET, 69(4), 2000, pp. 302-311
An unexpected affected female patient in a classical Lesch-Nyhan family
Authors: De Gregorio, L Nyhan, WL Serafin, E Chamoles, NA
Citation: L. De Gregorio et al., An unexpected affected female patient in a classical Lesch-Nyhan family, MOL GEN MET, 69(3), 2000, pp. 263-268
Risultati: 1-8 |