1020 Locust Street
Room 394
Philadelphia, PA 19107
(215) 955-1666
(215) 955-9554 fax
Room 394
Philadelphia, PA 19107
(215) 955-1666
(215) 955-9554 fax
Most Recent Peer-reviewed Publications
- Patient with unilateral white matter involvement does not have Krabbe disease
- Metachromatic leukodystrophy: A case of triplets with the late infantile variant and a systematic review of the literature
- Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy
- The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York
- Significant correction of pathology in brains of twitcher mice following injection of genetically modified mouse neural progenitor cells
- Newborn Screening for Krabbe Disease: the New York State Model
- Sphingomyelinase deficiency (Niemann-Pick disease) in a Hereford calf
- Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis
- A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patien 1329 ts in the Catania (Sicily, Italy) region.
- Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease
- Intrinsic resistance of neural stem cells to toxic metabolites may make them well suited for cell non-autonomous disorders: Evidence from a mouse model of Krabbe leukodystrophy
- Galactocerebrosidase-deficient oligodendrocytes maintain stable central myelin by exogenous replacement of the missing enzyme in mice
- Insulin-like growth factor-1 provides protection against psychosine-induced apoptosis in cultured mouse oligodendrocyte progenitor cells using primarily the PI3K/Akt pathway
- Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease
- AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2
- Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation
- Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease
- AAV-Mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy
- Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity
- Cord-Blood Transplants from Unrelated Donors in Patients with Hurler's Syndrome