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Molecular Genetics and Metabolism
|
October 25, 2011
Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: a start toward standardized outcome measurement across development
F J van Spronsen, S C J Huijbregts, A M Bosch, et al.
Annals of the New York Academy of Sciences
|
November 21, 1992
Effects of DNA-breaking agents on Cockayne syndrome cells
A Antonelli, P Petrinelli, L Marcucci, 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.
Neuropediatrics
|
December 1, 1993
Neuroradiological (MRI) abnormalities in phenylketonuric subjects: clinical and biochemical correlations
V Leuzzi, G F Gualdi, F Fabbrizi, et al.
Parkinsonism & Related Disorders
|
April 9, 2019
PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder
C Caputi, M Tolve, S Galosi, 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.
European Journal of Pediatrics
|
July 1, 1993
Neurological and cytogenetic study in early-onset ataxia-telangiectasia patients
V Leuzzi, R Elli, A Antonelli, 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.
Acta Neurologica Scandinavica
|
September 23, 1997
LHON mutations in Italian patients affected by multiple sclerosis
V Leuzzi, C Carducci, M Lenza, et al.
Neurology
|
November 23, 2000
Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)
V Leuzzi, M C Bianchi, M Tosetti, et al.
Page
of 7
Search research articles
Search
Showing results (21-30 of 64) with videos related to
Sort By:
Page
of 7
Molecular Genetics and Metabolism
|
October 25, 2011
Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: a start toward standardized outcome measurement across development
F J van Spronsen, S C J Huijbregts, A M Bosch, et al.
Annals of the New York Academy of Sciences
|
November 21, 1992
Effects of DNA-breaking agents on Cockayne syndrome cells
A Antonelli, P Petrinelli, L Marcucci, 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.
Neuropediatrics
|
December 1, 1993
Neuroradiological (MRI) abnormalities in phenylketonuric subjects: clinical and biochemical correlations
V Leuzzi, G F Gualdi, F Fabbrizi, et al.
Parkinsonism & Related Disorders
|
April 9, 2019
PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder
C Caputi, M Tolve, S Galosi, 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.
European Journal of Pediatrics
|
July 1, 1993
Neurological and cytogenetic study in early-onset ataxia-telangiectasia patients
V Leuzzi, R Elli, A Antonelli, 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.
Acta Neurologica Scandinavica
|
September 23, 1997
LHON mutations in Italian patients affected by multiple sclerosis
V Leuzzi, C Carducci, M Lenza, et al.
Neurology
|
November 23, 2000
Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)
V Leuzzi, M C Bianchi, M Tosetti, et al.
Page
of 7