Search research articles
Contact Us
Filters
Showing results (51-60 of 93) with videos related to
Page
of 10
Sort By:
Journal of Inherited Metabolic Disease
|
February 6, 2026
A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women
L Lenzini, G Pintus, G Gugelmo, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 21, 2007
Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene
Stefano Sartori, Alberto B Burlina, Leonardo Salviati, et al.
International Journal of Neonatal Screening
|
October 19, 2020
Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy
Alberto B Burlina, Giulia Polo, Laura Rubert, et al.
Biochimica Et Biophysica Acta
|
June 22, 2005
Lysosomal leukocyte beta-D-glucuronidase during enzyme replacement therapy in Fabry disease
Giancarlo Goi, Luca Massaccesi, Alessandro P Burlina, et al.
Journal of Neurology
|
February 26, 2008
The pulvinar sign: frequency and clinical correlations in Fabry disease
Alessandro P Burlina, Renzo Manara, Catherine Caillaud, et al.
Molecular Genetics and Metabolism
|
March 24, 2026
Inflammation and autophagy impairment in presymptomatic pediatric patients with Fabry disease identified by newborn screening
Vincenza Gragnaniello, Alessandro P Burlina, Chiara Cazzorla, et al.
Journal of Inherited Metabolic Disease
|
January 29, 2019
The neurological and psychological phenotype of adult patients with early-treated phenylketonuria: A systematic review
Alessandro P Burlina, Robin H Lachmann, Renzo Manara, et al.
International Journal of Neonatal Screening
|
December 27, 2024
Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, et al.
European Neurology
|
October 25, 2008
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study
S Mazzucco, G P Anzola, M Ferrarini, et al.
Journal of Inherited Metabolic Disease
|
February 22, 2012
Wernicke-like encephalopathy during classic maple syrup urine disease decompensation
R Manara, M Del Rizzo, A P Burlina, et al.
Page
of 10
Search research articles
Search
Showing results (51-60 of 93) with videos related to
Sort By:
Page
of 10
Journal of Inherited Metabolic Disease
|
February 6, 2026
A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women
L Lenzini, G Pintus, G Gugelmo, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 21, 2007
Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene
Stefano Sartori, Alberto B Burlina, Leonardo Salviati, et al.
International Journal of Neonatal Screening
|
October 19, 2020
Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy
Alberto B Burlina, Giulia Polo, Laura Rubert, et al.
Biochimica Et Biophysica Acta
|
June 22, 2005
Lysosomal leukocyte beta-D-glucuronidase during enzyme replacement therapy in Fabry disease
Giancarlo Goi, Luca Massaccesi, Alessandro P Burlina, et al.
Journal of Neurology
|
February 26, 2008
The pulvinar sign: frequency and clinical correlations in Fabry disease
Alessandro P Burlina, Renzo Manara, Catherine Caillaud, et al.
Molecular Genetics and Metabolism
|
March 24, 2026
Inflammation and autophagy impairment in presymptomatic pediatric patients with Fabry disease identified by newborn screening
Vincenza Gragnaniello, Alessandro P Burlina, Chiara Cazzorla, et al.
Journal of Inherited Metabolic Disease
|
January 29, 2019
The neurological and psychological phenotype of adult patients with early-treated phenylketonuria: A systematic review
Alessandro P Burlina, Robin H Lachmann, Renzo Manara, et al.
International Journal of Neonatal Screening
|
December 27, 2024
Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, et al.
European Neurology
|
October 25, 2008
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study
S Mazzucco, G P Anzola, M Ferrarini, et al.
Journal of Inherited Metabolic Disease
|
February 22, 2012
Wernicke-like encephalopathy during classic maple syrup urine disease decompensation
R Manara, M Del Rizzo, A P Burlina, et al.
Page
of 10