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Journal of Inherited Metabolic Disease
|
November 17, 2017
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
Alberto B Burlina, Giulia Polo, Leonardo Salviati, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
June 7, 2008
Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study
S Buechner, M Moretti, A P Burlina, et al.
European Journal of Neurology
|
August 14, 2018
Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature
T-H Lee, J-T Yang, J-D Lee, et al.
Journal of Inherited Metabolic Disease
|
March 6, 2007
Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine
R Matalon, K Michals-Matalon, G Bhatia, et al.
Orphanet Journal of Rare Diseases
|
September 22, 2023
Health-related quality of life in a european sample of adults with early-treated classical PKU
Stephanie Maissen-Abgottspon, Raphaela Muri, Michel Hochuli, et al.
Molecular Genetics and Metabolism Reports
|
October 31, 2022
Newborn screening for Pompe disease in Italy: Long-term results and future challenges
Vincenza Gragnaniello, Pim W W M Pijnappel, Alessandro P Burlina, et al.
Clinical Kidney Journal
|
January 4, 2021
Fabry disease and COVID-19: international expert recommendations for management based on real-world experience
Dawn A Laney, Dominique P Germain, João Paulo Oliveira, et al.
JIMD Reports
|
March 17, 2015
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype
J Reunert, A S Lotz-Havla, G Polo, et al.
Molecular Genetics and Metabolism
|
January 29, 2023
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry
Robert J Hopkin, Gustavo H Cabrera, John L Jefferies, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2011
Diagnosis and management of glutaric aciduria type I--revised recommendations
Stefan Kölker, Ernst Christensen, James V Leonard, et al.
Page
of 10
Search research articles
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Showing results (81-90 of 93) with videos related to
Sort By:
Page
of 10
Journal of Inherited Metabolic Disease
|
November 17, 2017
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
Alberto B Burlina, Giulia Polo, Leonardo Salviati, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
June 7, 2008
Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study
S Buechner, M Moretti, A P Burlina, et al.
European Journal of Neurology
|
August 14, 2018
Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature
T-H Lee, J-T Yang, J-D Lee, et al.
Journal of Inherited Metabolic Disease
|
March 6, 2007
Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine
R Matalon, K Michals-Matalon, G Bhatia, et al.
Orphanet Journal of Rare Diseases
|
September 22, 2023
Health-related quality of life in a european sample of adults with early-treated classical PKU
Stephanie Maissen-Abgottspon, Raphaela Muri, Michel Hochuli, et al.
Molecular Genetics and Metabolism Reports
|
October 31, 2022
Newborn screening for Pompe disease in Italy: Long-term results and future challenges
Vincenza Gragnaniello, Pim W W M Pijnappel, Alessandro P Burlina, et al.
Clinical Kidney Journal
|
January 4, 2021
Fabry disease and COVID-19: international expert recommendations for management based on real-world experience
Dawn A Laney, Dominique P Germain, João Paulo Oliveira, et al.
JIMD Reports
|
March 17, 2015
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype
J Reunert, A S Lotz-Havla, G Polo, et al.
Molecular Genetics and Metabolism
|
January 29, 2023
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry
Robert J Hopkin, Gustavo H Cabrera, John L Jefferies, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2011
Diagnosis and management of glutaric aciduria type I--revised recommendations
Stefan Kölker, Ernst Christensen, James V Leonard, et al.
Page
of 10