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Polo, Giulia
180
results:
Search for persons
X
Format
Online (180)
Mediatypes
Articles (Online) (79)
Bookchapter (Online) (4)
OpenAccess-fulltext (97)
Languages
english (165)
italian (1)
Sorted by: Relevance
Sorted by: Year
?
1
Pilot study of newborn screening for six lysosomal diseases..:
Kubaski, Francyne
;
Sousa, Ines
;
Amorim, Tatiana
...
Molecular Genetics and Metabolism. 140 (2023) 1-2 - p. 107654 , 2023
Link:
https://doi.org/10.1016/..
?
2
Lysosomals:
, In:
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
,
Funghini, Silvia
;
Malvagia, Sabrina
;
Polo, Giulia
. - p. 75-84 , 2022
Link:
https://doi.org/10.1007/..
?
3
Pilot study update: Newborn screening for lysosomal disorde..:
Kubaski, Francyne
;
Sousa, Ines
;
Amorim, Tatiana
...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S69 , 2022
Link:
https://doi.org/10.1016/..
?
4
Quantification of lysosphingomyelin and lysosphingomyelin-5..:
Kubaski, Francyne
;
Burlina, Alberto
;
Pereira, Danilo
...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
5
Experience of the NPC Brazil Network with a Comprehensive P..:
Kubaski, Francyne
;
Burlina, Alberto
;
Polo, Giulia
...
International Journal of Neonatal Screening. 8 (2022) 3 - p. 39 , 2022
Link:
https://doi.org/10.3390/..
?
6
Newborn screening for Pompe disease in Italy: Long-term res..:
Gragnaniello, Vincenza
;
Pijnappel, Pim W.W.M.
;
Burlina, Alessandro P.
...
Molecular Genetics and Metabolism Reports. 33 (2022) - p. 100929 , 2022
Link:
https://doi.org/10.1016/..
?
7
Newborn Screening for Fabry Disease in Northeastern Italy: ..:
Gragnaniello, Vincenza
;
Burlina, Alessandro P
;
Polo, Giulia
...
Biomolecules. 11 (2021) 7 - p. 951 , 2021
Link:
https://doi.org/10.3390/..
?
8
Newborn screening for six lysosomal diseases in Brazil: Pil..:
Kubaski, Francyne
;
Sousa, Inês
;
Amorim, Tatiana
...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S60 , 2021
Link:
https://doi.org/10.1016/..
?
9
Detection of 3-O-methyldopa in dried blood spots for neonat..:
Burlina, Alberto
;
Giuliani, Antonella
;
Polo, Giulia
...
Molecular Genetics and Metabolism. 133 (2021) 1 - p. 56-62 , 2021
Link:
https://doi.org/10.1016/..
?
10
The combined use of enzyme activity and metabolite assays a..:
Polo, Giulia
;
Gueraldi, Daniela
;
Giuliani, Antonella
...
Clinical Chemistry and Laboratory Medicine (CCLM). 58 (2020) 12 - p. 2063-2072 , 2020
Link:
https://doi.org/10.1515/..
?
11
Neonatal Screening for MPS Disorders in Latin America: A Su..:
Kubaski, Francyne
;
Sousa, Inês
;
Amorim, Tatiana
...
International Journal of Neonatal Screening. 6 (2020) 4 - p. 90 , 2020
Link:
https://doi.org/10.3390/..
?
12
Newborn screening for six lysosomal diseases: Pilot study i..:
Kubaski, Francyne
;
Sousa, Inês
;
Amorim, Tatiana
...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S94 , 2020
Link:
https://doi.org/10.1016/..
?
13
High incidence of Gaucher disease in northeast Italy: Resul..:
Burlina, Alberto
;
Polo, Giulia
;
Gueraldi, Daniela
...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S36 , 2020
Link:
https://doi.org/10.1016/..
?
14
Newborn screening for MPS I: The clinical benefit:
Burlina, Alberto
;
Gueraldi, Daniela
;
Polo, Giulia
...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S35-S36 , 2020
Link:
https://doi.org/10.1016/..
?
15
Report of Five Years of Experience in Neonatal Screening fo..:
Gragnaniello, Vincenza
;
Gueraldi, Daniela
;
Rubert, Laura
...
International Journal of Neonatal Screening. 6 (2020) 4 - p. 85 , 2020
Link:
https://doi.org/10.3390/..
1-15