E-LIB Suche - Ergebnisse für: Parini, R

1

The use of recombinant human growth hormone in patients wit..:

Cattoni, A. ; Motta, S. ; Masera, N....
Italian Journal of Pediatrics. 45 (2019) 1 - p. , 2019

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

2

Recognition of alpha-mannosidosis in paediatric and adult p..:

Guffon, N. ; Tylki-Szymanska, A. ; Borgwardt, L....
Molecular Genetics and Metabolism. 126 (2019) 4 - p. 470-474 , 2019

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

3

Home infusion program with enzyme replacement therapy for F..:

Concolino, D. ; Amico, L. ; Cappellini, M.D....
Molecular Genetics and Metabolism Reports. 12 (2017) - p. 85-91 , 2017

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

4

The effect of galsulfase enzyme replacement therapy on the ..:

Harmatz, P. ; Hendriksz, C.J. ; Lampe, C....
Molecular Genetics and Metabolism. 122 (2017) 1-2 - p. 107-112 , 2017

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

5

Type I integrable defects and finite-gap solutions for KdV ..:

Corrigan, E ; Parini, R
Journal of Physics A: Mathematical and Theoretical. 50 (2017) 28 - p. 284001 , 2017

Link: https://doi.org/10.1088/..

6

Clinical outcomes in a subpopulation of adults with Morquio..:

Hughes, D. ; Giugliani, R. ; Guffon, N....
Orphanet Journal of Rare Diseases. 12 (2017) 1 - p. , 2017

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

7

A Systematic Review of The Humanistic Burden of Disease In ..:

Parini, R ; Schiffmann, R ; Fotheringham, I.
Value in Health. 18 (2015) 7 - p. A762 , 2015

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

8

Clinical onset and course, response to treatment and outcom..:

Huemer, M. ; Bürer, C. ; Ješina, P....
Journal of Inherited Metabolic Disease. 38 (2014) 5 - p. 957-967 , 2014

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

9

A nationwide survey of PMM2-CDG in Italy: high frequency of..:

Barone, Rita ; Carrozzi, M. ; Parini, R....
Journal of Neurology. 262 (2014) 1 - p. 154-164 , 2014

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

10

Intrafamilial phenotypic variability in four families with ..:

Rigoldi, M. ; Concolino, D. ; Morrone, A....
Clinical Genetics. 86 (2013) 3 - p. 258-263 , 2013

Link: https://doi.org/10.1111/..

11

Angiokeratoma: decision-making aid for the diagnosis of Fab..:

Zampetti, A. ; Orteu, C.H. ; Antuzzi, D....
British Journal of Dermatology. 166 (2012) 4 - p. 712-720 , 2012

Link: https://doi.org/10.1111/..

12

Carbamoyl Phosphate Synthetase 1 deficiency in Italy: Clini..:

Funghini, S. ; Thusberg, J. ; Spada, M....
Gene. 493 (2012) 2 - p. 228-234 , 2012

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

13

Angiokeratoma: Decision Making Methodology for the Diagnosi..:

Zampetti, A. ; Orteu, C.H. ; Antuzzi, D....
British Journal of Dermatology. , 2011

Link: https://doi.org/10.1111/..

14

Safety of agalsidase alfa in patients with Fabry disease un..:

Ramaswami, U ; Parini, R ; Kampmann, C.
Acta Paediatrica. 100 (2011) 4 - p. 605-611 , 2011

Link: https://doi.org/10.1111/..

15

Fabry disease: polymorphic haplotypes and a novel missense ..:

Ferri, L ; Guido, C ; la Marca, G...
Clinical Genetics. 81 (2011) 3 - p. 224-233 , 2011

Link: https://doi.org/10.1111/..