Found: 19
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Krabbe disease: One Hundred years from the bedside to the bench to the bedside.
- Published in:
- Journal of Neuroscience Research, 2016, v. 94, n. 11, p. 982, doi. 10.1002/jnr.23743
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- Article
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 disease.
- Published in:
- Journal of Neuroscience Research, 2016, v. 94, n. 11, p. 1076, doi. 10.1002/jnr.23905
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- Article
Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.
- Published in:
- 2020
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- Publication type:
- journal article
Lysosomal Storage Diseases: Heterogeneous Group of Disorders.
- Published in:
- BioImpacts, 2013, v. 3, n. 4, p. 145, doi. 10.5681/bi.2013.029
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- Publication type:
- Article
Extended Normal Life After AAVrh10-mediated Gene Therapy in the Mouse Model of Krabbe Disease.
- Published in:
- Molecular Therapy, 2012, v. 20, n. 11, p. 2031, doi. 10.1038/mt.2012.153
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- Publication type:
- Article
888. Characterization of New Murine Models of Globoid Cell Leukodystrophy: Relevance for Gene Therapy Applications and Studies on Disease Pathogenesis.
- Published in:
- Molecular Therapy, 2006, v. 13, p. S342, doi. 10.1016/j.ymthe.2006.08.977
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- Publication type:
- Article
212. Delivery of Galactocerebrosidase Activity to the Peripheral Nervous System of Mice with Globoid Cell Leukodystrophy (Krabbe Disease) by Intramuscular Injection.
- Published in:
- Molecular Therapy, 2006, v. 13, p. S82, doi. 10.1016/j.ymthe.2006.08.237
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- Publication type:
- Article
AAV-Mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy
- Published in:
- Molecular Therapy, 2005, v. 11, n. 5, p. 734, doi. 10.1016/j.ymthe.2004.12.020
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- Publication type:
- Article
ACUTE VENTILATION-DEPENDENT EXPRESSION OF SURFACTANT-ASSOCIATED PROTEINS IN PRETERM RABBIT NEONATES.
- Published in:
- Journal of Perinatal Medicine, 1991, v. 19, p. 364
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- Publication type:
- Article
Advances in the Diagnosis and Treatment of Krabbe Disease.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030057
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- Publication type:
- Article
L'attività fisica in Italia: trend, programmi e politiche di indirizzo (2008-2020).
- Published in:
- Bollettino epidemiologico nazionale (BEN), 2021, v. 2, n. 4, p. 46
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- Publication type:
- Article
Human papilloma virus infection and Ki-ras oncogene in paraffin-embedded squamous carcinomas of the cervix.
- Published in:
- 1993
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- Publication type:
- journal article
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications.
- Published in:
- Human Mutation, 1997, v. 10, n. 4, p. 268, doi. 10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D
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- Publication type:
- Article
The Lysosomal Diseases Testing Laboratory: A review of the past 47 years.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 61, doi. 10.1002/jmd2.12117
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- Publication type:
- Article
Multiple mutations in the GALC gene in a patient with adult-onset krabbe disease.
- Published in:
- Annals of Neurology, 1996, v. 40, n. 1, p. 116, doi. 10.1002/ana.410400119
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- Publication type:
- Article
Can early treatment of twitcher mice with high dose AAVrh10-GALC eliminate the need for BMT?
- Published in:
- BioImpacts, 2021, v. 11, n. 2, p. 135, doi. 10.34172/bi.2021.21
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- Publication type:
- Article
Conditions for combining gene therapy with bone marrow transplantation in murine Krabbe disease.
- Published in:
- BioImpacts, 2020, v. 10, n. 2, p. 105, doi. 10.34172/bi.2020.13
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- Publication type:
- Article
Characterization of the large deletion in the GALC gene found in patients with Krabbe disease.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2335
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- Publication type:
- Article
A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1285
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- Publication type:
- Article