Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice von Rafi, Mohammad A, Rao, Han Zhi, Luzi, Paola, Wenger, David A

Volltext

Lysosomal storage disease as an etiology of nonimmune hydrops von Gimovsky, Alexis C., MD, Luzi, Paola, PhD, Berghella, Vincenzo, MD

Volltext

Krabbe disease: One Hundred years from the bedside to the bench to the bedside von Wenger, David A., Rafi, Mohammad A., Luzi, Paola

Volltext

Adverse Events in Italian Nursing Homes During the COVID-19 Epidemic: A National Survey von Lombardo, Flavia L., Salvi, Emanuela, Lacorte, Eleonora, Piscopo, Paola, Mayer, Flavia, Ancidoni, Antonio, Remoli, Giulia, Bellomo, Guido, Losito, Gilda, D'Ancona, Fortunato, Canevelli, Marco, Onder, Graziano, Vanacore, Nicola

Volltext

Can early treatment of twitcher mice with high dose AAVrh10-GALC eliminate the need for BMT? von Rafi, Mohammad A., Luzi, Paola, Wenger, David A.

Volltext

Conditions for combining gene therapy with bone marrow transplantation in murine Krabbe disease von Rafi, Mohammad A., Luzi, Paola, Wenger, David A.

Volltext

Advances in the Diagnosis and Treatment of Krabbe Disease von Wenger, David A, Luzi, Paola, Rafi, Mohammad A

Volltext

The Lysosomal Diseases Testing Laboratory: A review of the past 47 years von Wenger, David A., Luzi, Paola

Volltext

Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy von Luzi, Paola, Rafi, Mohammad A., Rao, Han Zhi, Wenger, David A.

Volltext

AAV-Mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy von Rafi, Mohammad A., Zhi Rao, Han, Passini, Marco A., Curtis, Mark, Vanier, Marie T., Zaka, Mariam, Luzi, Paola, Wolfe, John H., Wenger, David A.

Volltext

Krabbe Disease: Genetic Aspects and Progress toward Therapy von Wenger, David A., Rafi, Mohammad A., Luzi, Paola, Datto, Jeffrey, Costantino-Ceccarini, Elvira

Volltext

Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications von Wenger, David A., Rafi, Mohammad A., Luzi, Paola

Volltext

Lysosomal Storage Diseases: Heterogeneous Group of Disorders von Wenger, David A, Luzi, Paola, Rafi, Mohammad A

Volltext

Extended Normal Life After AAVrh10-mediated Gene Therapy in the Mouse Model of Krabbe Disease von Rafi, Mohammad A, Rao, Han Zhi, Luzi, Paola, Curtis, Mark T, Wenger, David A

Volltext

K rabbe disease: One Hundred years from the bedside to the bench to the bedside von Wenger, David A., Rafi, Mohammad A., Luzi, Paola

Volltext

The Italian national survey on Coronavirus disease 2019 epidemic spread in nursing homes von Lombardo, Flavia L., Bacigalupo, Ilaria, Salvi, Emanuela, Lacorte, Eleonora, Piscopo, Paola, Mayer, Flavia, Ancidoni, Antonio, Remoli, Giulia, Bellomo, Guido, Losito, Gilda, D'Ancona, Fortunato, Bella, Antonio, Pezzotti, Patrizio, Canevelli, Marco, Onder, Graziano, Vanacore, Nicola

Volltext

Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations? von Wenger, David A., Luzi, Paola, Rafi, Mohammad A.

Volltext

Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of... von Rafi, Mohammad A., Rao, Han Zhi, Luzi, Paola, Luddi, Alice, Curtis, Mark T., Wenger, David A.

Volltext

Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study von Al‐Kouatly, Huda B., Felder, Laura, Makhamreh, Mona M., Kass, Stephanie L., Vora, Neeta L., Berghella, Vincenzo, Berger, Seth, Wenger, David A., Luzi, Paola

Volltext

Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's... von Saavedra-Matiz, Carlos A., Luzi, Paola, Nichols, Matthew, Orsini, Joseph J., Caggana, Michele, Wenger, David A.

Volltext