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Journal of Inherited Metabolic Disease
|
January 25, 2007
The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study
V Leuzzi, M Tosetti, D Montanaro, et al.
Neurology
|
February 26, 2003
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families
G Lesca, E Eymard-Pierre, F M Santorelli, et al.
Journal of Inherited Metabolic Disease
|
March 30, 2018
Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders
O Kuseyri, A Weissbach, N Bruggemann, et al.
Neurology
|
January 14, 2004
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type
G S Grieco, A Malandrini, G Comanducci, et al.
Clinical Genetics
|
January 12, 2010
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency
V Leuzzi, C A Carducci, C L Carducci, et al.
Journal of Neurology
|
October 31, 2014
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation
Rita Barone, M Carrozzi, R Parini, et al.
Orphanet Journal of Rare Diseases
|
July 2, 2020
PKU dietary handbook to accompany PKU guidelines
A MacDonald, A M J van Wegberg, K Ahring, et al.
Orphanet Journal of Rare Diseases
|
September 3, 2020
Correction to: PKU dietary handbook to accompany PKU guidelines
A MacDonald, A M J van Wegberg, K Ahring, et al.
Neurology
|
October 20, 2010
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies
D Cassandrini, R Biancheri, A Tessa, et al.
Orphanet Journal of Rare Diseases
|
October 14, 2017
The complete European guidelines on phenylketonuria: diagnosis and treatment
A M J van Wegberg, A MacDonald, K Ahring, et al.
Page
of 7
Search research articles
Search
Showing results (51-60 of 64) with videos related to
Sort By:
Page
of 7
Journal of Inherited Metabolic Disease
|
January 25, 2007
The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study
V Leuzzi, M Tosetti, D Montanaro, et al.
Neurology
|
February 26, 2003
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families
G Lesca, E Eymard-Pierre, F M Santorelli, et al.
Journal of Inherited Metabolic Disease
|
March 30, 2018
Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders
O Kuseyri, A Weissbach, N Bruggemann, et al.
Neurology
|
January 14, 2004
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type
G S Grieco, A Malandrini, G Comanducci, et al.
Clinical Genetics
|
January 12, 2010
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency
V Leuzzi, C A Carducci, C L Carducci, et al.
Journal of Neurology
|
October 31, 2014
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation
Rita Barone, M Carrozzi, R Parini, et al.
Orphanet Journal of Rare Diseases
|
July 2, 2020
PKU dietary handbook to accompany PKU guidelines
A MacDonald, A M J van Wegberg, K Ahring, et al.
Orphanet Journal of Rare Diseases
|
September 3, 2020
Correction to: PKU dietary handbook to accompany PKU guidelines
A MacDonald, A M J van Wegberg, K Ahring, et al.
Neurology
|
October 20, 2010
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies
D Cassandrini, R Biancheri, A Tessa, et al.
Orphanet Journal of Rare Diseases
|
October 14, 2017
The complete European guidelines on phenylketonuria: diagnosis and treatment
A M J van Wegberg, A MacDonald, K Ahring, et al.
Page
of 7