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Molecular Genetics and Metabolism
|
January 4, 2001
Two new severe mutations causing guanidinoacetate methyltransferase deficiency
C Carducci, V Leuzzi, C Carducci, et al.
Journal of Chromatography. B, Biomedical Sciences and Applications
|
June 8, 2001
Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiency
C Carducci, M Birarelli, P Santagata, et al.
Journal of Inherited Metabolic Disease
|
May 26, 2004
Executive function impairment in early-treated PKU subjects with normal mental development
V Leuzzi, M Pansini, E Sechi, et al.
Minerva Pediatrica
|
January 15, 1980
[Acute neonatal case of maple syrup urine disease]
G Spennati, I Antonozzi, O Giardini, et al.
Electroencephalography and Clinical Neurophysiology
|
January 1, 1983
EEG as a possible prognostic tool in phenylketonuria
G F De Giorgis, I Antonozzi, P G Del Castello, et al.
Rivista Di Neurobiologia : Organo Ufficiale Della Societa Dei Neurologi, Neuroradiologi E Neurochirurghi Ospedalieri
|
July 1, 1982
[Analysis of various clinical and immunologic signs of ataxia-telangiectasia observed in all of the members of a family]
C Del Bufalo, G Valesini, M G D'Alessandro, et al.
Neuropediatrics
|
December 1, 1993
Neuroradiological (MRI) abnormalities in phenylketonuric subjects: clinical and biochemical correlations
V Leuzzi, G F Gualdi, F Fabbrizi, et al.
Journal of Inherited Metabolic Disease
|
April 8, 2006
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency
V Leuzzi, C Carducci, C Carducci, et al.
Clinical Genetics
|
November 4, 2010
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome
L Pacifico, C Carducci, E Poggiogalle, et al.
Journal of Inherited Metabolic Disease
|
October 14, 2000
Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria
V Leuzzi, M C Bianchi, M Tosetti, et al.
Page
of 6
Search research articles
Search
Showing results (31-40 of 55) with videos related to
Sort By:
Page
of 6
Molecular Genetics and Metabolism
|
January 4, 2001
Two new severe mutations causing guanidinoacetate methyltransferase deficiency
C Carducci, V Leuzzi, C Carducci, et al.
Journal of Chromatography. B, Biomedical Sciences and Applications
|
June 8, 2001
Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiency
C Carducci, M Birarelli, P Santagata, et al.
Journal of Inherited Metabolic Disease
|
May 26, 2004
Executive function impairment in early-treated PKU subjects with normal mental development
V Leuzzi, M Pansini, E Sechi, et al.
Minerva Pediatrica
|
January 15, 1980
[Acute neonatal case of maple syrup urine disease]
G Spennati, I Antonozzi, O Giardini, et al.
Electroencephalography and Clinical Neurophysiology
|
January 1, 1983
EEG as a possible prognostic tool in phenylketonuria
G F De Giorgis, I Antonozzi, P G Del Castello, et al.
Rivista Di Neurobiologia : Organo Ufficiale Della Societa Dei Neurologi, Neuroradiologi E Neurochirurghi Ospedalieri
|
July 1, 1982
[Analysis of various clinical and immunologic signs of ataxia-telangiectasia observed in all of the members of a family]
C Del Bufalo, G Valesini, M G D'Alessandro, et al.
Neuropediatrics
|
December 1, 1993
Neuroradiological (MRI) abnormalities in phenylketonuric subjects: clinical and biochemical correlations
V Leuzzi, G F Gualdi, F Fabbrizi, et al.
Journal of Inherited Metabolic Disease
|
April 8, 2006
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency
V Leuzzi, C Carducci, C Carducci, et al.
Clinical Genetics
|
November 4, 2010
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome
L Pacifico, C Carducci, E Poggiogalle, et al.
Journal of Inherited Metabolic Disease
|
October 14, 2000
Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria
V Leuzzi, M C Bianchi, M Tosetti, et al.
Page
of 6