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JIMD Reports
|
September 14, 2022
Bone disease in early detected Gaucher Type I disease: A case report
Vincenza Gragnaniello, Alessandro P Burlina, Renzo Manara, et al.
International Journal of Neonatal Screening
|
June 27, 2023
Newborn Screening for Fabry Disease: Current Status of Knowledge
Vincenza Gragnaniello, Alessandro P Burlina, Anna Commone, et al.
Molecular Genetics and Metabolism Reports
|
June 8, 2026
Quality of life after diet liberalization in individuals with phenylketonuria treated with Pegvaliase
Chiara Cazzorla, Giacomo Gaiga, Jessica Carretta, et al.
Molecular Genetics and Metabolism
|
March 21, 2021
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience
Alberto Burlina, Antonella Giuliani, Giulia Polo, et al.
JIMD Reports
|
March 6, 2024
Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression
Alberto B Burlina, Alessandro P Burlina, Renzo Mignani, et al.
Clinical Chemistry and Laboratory Medicine
|
May 21, 2020
The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I
Giulia Polo, Daniela Gueraldi, Antonella Giuliani, et al.
American Journal of Medical Genetics. Part A
|
April 3, 2023
Long-term follow-up of a patient with neonatal form of Gaucher disease
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, et al.
BMC Public Health
|
December 5, 2014
Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria
Chiara Cazzorla, Luca Cegolon, Alessandro P Burlina, et al.
BMC Neurology
|
May 31, 2011
Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel
Alessandro P Burlina, Katherine B Sims, Juan M Politei, et al.
Clinical Chemistry and Laboratory Medicine
|
August 18, 2016
Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS
Giulia Polo, Alessandro P Burlina, Thilini B Kolamunnage, et al.
Page
of 10
Search research articles
Search
Showing results (61-70 of 93) with videos related to
Sort By:
Page
of 10
JIMD Reports
|
September 14, 2022
Bone disease in early detected Gaucher Type I disease: A case report
Vincenza Gragnaniello, Alessandro P Burlina, Renzo Manara, et al.
International Journal of Neonatal Screening
|
June 27, 2023
Newborn Screening for Fabry Disease: Current Status of Knowledge
Vincenza Gragnaniello, Alessandro P Burlina, Anna Commone, et al.
Molecular Genetics and Metabolism Reports
|
June 8, 2026
Quality of life after diet liberalization in individuals with phenylketonuria treated with Pegvaliase
Chiara Cazzorla, Giacomo Gaiga, Jessica Carretta, et al.
Molecular Genetics and Metabolism
|
March 21, 2021
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience
Alberto Burlina, Antonella Giuliani, Giulia Polo, et al.
JIMD Reports
|
March 6, 2024
Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression
Alberto B Burlina, Alessandro P Burlina, Renzo Mignani, et al.
Clinical Chemistry and Laboratory Medicine
|
May 21, 2020
The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I
Giulia Polo, Daniela Gueraldi, Antonella Giuliani, et al.
American Journal of Medical Genetics. Part A
|
April 3, 2023
Long-term follow-up of a patient with neonatal form of Gaucher disease
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, et al.
BMC Public Health
|
December 5, 2014
Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria
Chiara Cazzorla, Luca Cegolon, Alessandro P Burlina, et al.
BMC Neurology
|
May 31, 2011
Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel
Alessandro P Burlina, Katherine B Sims, Juan M Politei, et al.
Clinical Chemistry and Laboratory Medicine
|
August 18, 2016
Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS
Giulia Polo, Alessandro P Burlina, Thilini B Kolamunnage, et al.
Page
of 10