E-LIB Suche - Ergebnisse für: Rubert, Laura

1

A new strategy of desensitization in mucopolysaccharidosis ..:

Gragnaniello, Vincenza ; Carraro, Silvia ; Rubert, Laura...
Molecular Genetics and Metabolism Reports. 31 (2022) - p. 100878 , 2022

Link: https://doi.org/10.1016/..

2

Bone disease in early detected Gaucher Type I disease: A ca..:

Gragnaniello, Vincenza ; Burlina, Alessandro P. ; Manara, Renzo...
JIMD Reports. 63 (2022) 5 - p. 414-419 , 2022

Link: https://doi.org/10.1002/..

3

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/..

4

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/..

5

Preeclampsia: a defect in decidualization is associated wit..:

Garrido-Gomez, Tamara ; Quiñonero, Alicia ; Dominguez, Francisco...
American Journal of Obstetrics and Gynecology. 222 (2020) 4 - p. 376.e1-376.e17 , 2020

Link: https://doi.org/10.1016/..

6

Multicentric Retrospective Evaluation of Five Classic Infan..:

Paoletti, Matteo ; Pichiecchio, Anna ; Colafati, Giovanna Stefania...
Frontiers in Neurology. 11 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

7

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/..

8

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/..

9

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/..

10

Plasma and dried blood spot lysosphingolipids for the diagn..:

Polo, Giulia ; Burlina, Alessandro P. ; Ranieri, Enzo...
Clinical Chemistry and Laboratory Medicine (CCLM). 57 (2019) 12 - p. 1863-1874 , 2019

Link: https://doi.org/10.1515/..

11

Implementation of Second-Tier Tests in Newborn Screening fo..:

Burlina, Alberto B. ; Polo, Giulia ; Rubert, Laura...
International Journal of Neonatal Screening. 5 (2019) 2 - p. 24 , 2019

Link: https://doi.org/10.3390/..

12

Neonatal screening for lysosomal disorders in Italy: The in..:

Burlina, Alberto B. ; Polo, Giulia ; Salviati, Leonardo...
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S27 , 2018

Link: https://doi.org/10.1016/..

13

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Se..:

Williams, Monique ; Burlina, Alberto ; Rubert, Laura...
Scientific Reports. 8 (2018) 1 - p. , 2018

Link: https://doi.org/10.1038/..

14

Newborn screening for lysosomal storage disorders by tandem..:

Burlina, Alberto B. ; Polo, Giulia ; Salviati, Leonardo...
Journal of Inherited Metabolic Disease. 41 (2017) 2 - p. 209-219 , 2017

Link: https://doi.org/10.1007/..

15

Recombinant erythropoietin vs. blood transfusion care in in..:

Farruggia, Piero ; Puccio, Giuseppe ; Ramenghi, Ugo...
American Journal of Hematology. 92 (2017) 6 - p. , 2017

Link: https://doi.org/10.1002/..