E-LIB Suche - Ergebnisse für: Luzi, Paola

1

Advances in the Diagnosis and Treatment of Krabbe Disease:

Wenger, David A ; Luzi, Paola ; Rafi, Mohammad A.
International Journal of Neonatal Screening. 7 (2021) 3 - p. 57 , 2021

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

2

The Lysosomal Diseases Testing Laboratory: A review of the ..:

Wenger, David A. ; Luzi, Paola
JIMD Reports. 54 (2020) 1 - p. 61-67 , 2020

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

3

List of contributors:

, In: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease,

Ah Mew, Nicholas ; Akamatsu, Wado ; Akman, Hasan Orhan... - p. xvii-xx , 2020

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

4

Lysosomal storage disease spectrum in nonimmune hydrops fet..:

Al‐Kouatly, Huda B. ; Felder, Laura ; Makhamreh, Mona M....
Prenatal Diagnosis. 40 (2020) 6 - p. 738-745 , 2020

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

5

Krabbe disease: globoid cell leukodystrophy:

, In: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease,

Wenger, David A. ; Luzi, Paola - p. 481-491 , 2020

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

6

Expression of individual mutations and haplotypes in the ga..:

Saavedra‐Matiz, Carlos A. ; Luzi, Paola ; Nichols, Matthew...
Journal of Neuroscience Research. 94 (2016) 11 - p. 1076-1083 , 2016

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

7

Krabbe disease: One Hundred years from the bedside to the b..:

Wenger, David A. ; Rafi, Mohammad A. ; Luzi, Paola
Journal of Neuroscience Research. 94 (2016) 11 - p. 982-989 , 2016

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

8

Lysosomal storage disease as an etiology of nonimmune hydro..:

Gimovsky, Alexis C. ; Luzi, Paola ; Berghella, Vincenzo
American Journal of Obstetrics and Gynecology. 212 (2015) 3 - p. 281-290 , 2015

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

9

Contributors:

, In: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease,

Mew, Nicholas Ah ; Akamatsu, Wado ; Akman, Hasan Orhan... - p. xxxv-xxxix , 2015

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

10

Krabbe Disease:

, In: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease,

Wenger, David A. ; Luzi, Paola - p. 337-346 , 2015

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

11

Intravenous injection of AAVrh10-GALC after the neonatal pe..:

Rafi, Mohammad A. ; Rao, Han Zhi ; Luzi, Paola...
Molecular Genetics and Metabolism. 114 (2015) 3 - p. 459-466 , 2015

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

12

Long-term Improvements in Lifespan and Pathology in CNS and..:

Rafi, Mohammad A ; Rao, Han Zhi ; Luzi, Paola.
Molecular Therapy. 23 (2015) 11 - p. 1681-1690 , 2015

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

13

Krabbe disease: Are certain mutations disease-causing only ..:

Wenger, David A. ; Luzi, Paola ; Rafi, Mohammad A.
Molecular Genetics and Metabolism. 111 (2014) 3 - p. 307-308 , 2014

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

14

Sixteen novel mutations in the arylsulfatase A gene causing..:

Luzi, Paola ; Rafi, Mohammad A. ; Rao, Han Zhi.
Gene. 530 (2013) 2 - p. 323-328 , 2013

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

15

Use of AAVrh10-GALC to Treat the Twitcher Mouse Model of Kr..:

Wenger, David ; Rafi, Mohammad ; Luzi, Paola.
Molecular Genetics and Metabolism. 105 (2012) 2 - p. S64 , 2012

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