E-LIB Suche - Ergebnisse für: Sapuppo, Annamaria

1

Gaucher Disease or Acid Sphingomyelinase Deficiency? The Im..:

Giacomarra, Miriam ; Colomba, Paolo ; Francofonte, Daniele...
Journal of Clinical Medicine. 13 (2024) 5 - p. 1487 , 2024

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

2

Reducing agalsidase beta infusion time in Fabry patients: l..:

Mignani, Renzo ; Americo, Claudio ; Aucella, Filippo...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

3

Obesity as a Confounding Factor in the Diagnosis of Wilson'..:

Bracciamà, Emanuele ; Sapuppo, Annamaria ; Rapisarda, Laura...
Current Issues in Molecular Biology. 46 (2024) 6 - p. 6112-6120 , 2024

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

4

Balance impairment in cerebrotendinous xanthomatosis: Ankle..:

Cioni, Matteo ; Casabona, Antonino ; Sapuppo, Annamaria...
Clinical Biomechanics. 102 (2023) - p. 105896 , 2023

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

5

Higher frequency of TMEM199-CDG in the southern mediterrane..:

Fiumara, Agata ; Sapuppo, Annamaria ; Ferri, Lorenzo...
European Journal of Medical Genetics. 66 (2023) 3 - p. 104709 , 2023

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

6

Positive Impact of Home ERT for Mucopolysaccharidoses and P..:

Fiumara, Agata ; Lanzafame, Giuseppina ; Sapuppo, Annamaria...
Healthcare. 11 (2023) 8 - p. 1176 , 2023

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

7

Avalglucosidase alfa in patients with infantile-onset Pompe..:

Sapuppo, Annamaria ; Gasperini, Serena ; Sacchini, Michele...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107303 , 2023

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

8

Dihydropyridine Reductase Deficiency: Acute Encephalopathy ..:

Pappalardo, Maria Grazia ; Di Nora, Alessandra ; Giugno, Andrea...
Global Medical Genetics. 9 (2022) 3 - p. 247-251 , 2022

Link: https://doi.org/10.1055/..

9

COVID-19 Pandemic Outbreak and its Psychological Impact on ..:

Fiumara, Agata ; Lanzafame, Giuseppina ; Arena, Alessia...
Journal of Clinical Medicine. 9 (2020) 9 - p. 2716 , 2020

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

10

PANS/PANDAS: Clinical Experience in IVIG Treatment and Stat..:

Pavone, Piero ; Falsaperla, Raffaele ; Cacciaguerra, Giovanni...
NeuroSci. 1 (2020) 2 - p. 75-84 , 2020

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

11

Genotype-phenotype variable correlation in Wilson disease: ..:

Sapuppo, Annamaria ; Pavone, Piero ; Praticò, Andrea Domenico...
BMC Medical Genetics. 21 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

12

Deciphering the Invdupdel(8p) Genotype–Phenotype Correlatio..:

Lo Bianco, Manuela ; Vecchio, Davide ; Timpanaro, Tiziana A....
Brain Sciences. 10 (2020) 7 - p. 451 , 2020

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

13

Positive Impact of Home ERT for Mucopolysaccharidoses and P..:

Fiumara, Agata ; Lanzafame, Giuseppina ; Sapuppo, Annamaria...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137846/. , 2023

Link: http://www.ncbi.nlm.nih...

14

COVID-19 Pandemic Outbreak and its Psychological Impact on ..:

Fiumara, Agata ; Lanzafame, Giuseppina ; Arena, Alessia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563156/. , 2020

Link: http://www.ncbi.nlm.nih...

15

Deciphering the Invdupdel(8p) Genotype–Phenotype Correlatio..:

Lo Bianco, Manuela ; Vecchio, Davide ; Timpanaro, Tiziana A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408450/. , 2020

Link: http://www.ncbi.nlm.nih...