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Central nervous system involvement in adult-onset Gaucher's disease.
- Published in:
- Acta Neuropathologica, 1980, v. 49, n. 1, p. 1, doi. 10.1007/BF00692212
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- Publication type:
- Article
An evaluation of reporting guidelines and Clinical Trial Registry requirements among anesthesiology journals.
- Published in:
- Journal of Evidence-Based Medicine, 2023, v. 16, n. 2, p. 116, doi. 10.1111/jebm.12533
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- Publication type:
- Article
Patient Identification of Lung Cancer Screening Follow-Up Recommendations and the Association with Adherence.
- Published in:
- 2022
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- Publication type:
- journal article
The Impact of Smoking and Screening Results on Adherence to Follow-Up in an Academic Multisite Lung Cancer Screening Program.
- Published in:
- 2021
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- Publication type:
- Letter
The Impact of Smoking and Screening Results on Adherence to Follow-Up in an Academic Multisite Lung Cancer Screening Program .
- Published in:
- Annals of the American Thoracic Society, 2021, v. 18, n. 3, p. 541
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- Publication type:
- Article
Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease.
- Published in:
- Nature Medicine, 2007, v. 13, n. 4, p. 439, doi. 10.1038/nm1548
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- Publication type:
- Article
Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-β- D-glucopyranoside for prenatal diagnosis of tay-sachs disease using chorionic villi.
- Published in:
- Prenatal Diagnosis, 1987, v. 7, n. 6, p. 419, doi. 10.1002/pd.1970070608
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- Publication type:
- Article
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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- Publication type:
- 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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- Publication type:
- Article
REPARATIONS WITHIN THE RULE OF LAW.
- Published in:
- Thomas Jefferson Law Review, 2007, v. 29, n. 2, p. 231
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- Publication type:
- Article
Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.
- Published in:
- 2019
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- Publication type:
- journal article
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
- Published in:
- 2018
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- Publication type:
- journal article
Niemann-pick disease type C in neonatal cholestasis at a North American Center.
- Published in:
- 2002
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- Publication type:
- journal article
Spin in Abstracts of Systematic Reviews and Meta-analyses of Melanoma Therapies: Cross-sectional Analysis.
- Published in:
- JMIR Dermatology, 2022, v. 5, n. 1, p. 1, doi. 10.2196/33996
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- Publication type:
- Article
Publication Trends and Their Relationship With Academic Success Among Dermatology Residents: Cross-sectional Analysis.
- Published in:
- JMIR Dermatology, 2021, v. 4, n. 2, p. 1, doi. 10.2196/30015
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- Publication type:
- Article
Preclinical Four-Dimensional Functional Lung Imaging and Quantification of Regional Airflow: A New Standard in Lung Function Evaluation in Murine Models.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2022, v. 67, n. 4, p. 423, doi. 10.1165/rcmb.2022-0055MA
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- Publication type:
- Article
The Lysosomal Diseases Testing Laboratory: A review of the past 47 years.
- Published in:
- 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
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
United States internet searches for "infertility" following COVID-19 vaccine misinformation.
- Published in:
- Journal of Osteopathic Medicine, 2021, v. 121, n. 6, p. 583, doi. 10.1515/jom-2021-0059
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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
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
Quantifying ventilation by X-ray velocimetry in healthy adults.
- Published in:
- Respiratory Research, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12931-023-02517-z
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- Publication type:
- Article
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood‐onset beta‐mannosidosis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.712
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- Publication type:
- Article
Pericardial Fat and Right Ventricular Morphology: The Multi-Ethnic Study of Atherosclerosis- Right Ventricle Study (MESA-RV).
- Published in:
- PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0157654
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- Publication type:
- Article
Neurological Manifestations of Niemann-Pick Disease Type C in Cats.
- Published in:
- Journal of Veterinary Internal Medicine, 1994, v. 8, n. 2, p. 117, doi. 10.1111/j.1939-1676.1994.tb03208.x
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- Publication type:
- Article
The Use of Exaggerative Language in News Articles About Cystic Fibrosis Therapies : Exaggerative Language Describing Cystic Fibrosis Therapies.
- Published in:
- 2021
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- Publication type:
- journal article
Evaluation of Industry Relationships Among Authors of Systematic Reviews and Meta-analyses Regarding Ménières Disease.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2022, v. 131, n. 9, p. 1004, doi. 10.1177/00034894211051822
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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
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
AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2
- Published in:
- Molecular Therapy, 2005, v. 12, n. 3, p. 422, doi. 10.1016/j.ymthe.2005.04.019
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- Publication type:
- Article
972. HSC-Based Ex Vivo Gene Therapy Prolongs Survival and Improves the Phenotype of Globoid Cell Leukodystrophy Mice
- Published in:
- 2005
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- Publication type:
- Abstract
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
Somatic and intergenerational G4C2 hexanucleotide repeat instability in a human C9orf72 knock-in mouse model.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. 10, p. 5732, doi. 10.1093/nar/gkae250
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- Publication type:
- Article
Metachromatic Leukodystrophy: A Case of Triplets With the Late Infantile Variant and a Systematic Review of the Literature.
- Published in:
- Journal of Child Neurology, 2010, v. 25, n. 5, p. 572, doi. 10.1177/0883073809341669
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- Publication type:
- Article
Brain Proton Magnetic Resonance Spectroscopy and Neuromuscular Pathology in a Patient With GM<sub>1</sub> Gangliosidosis.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 1, p. 73, doi. 10.1177/0883073807307088
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- Publication type:
- 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
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 742, doi. 10.1002/humu.9500
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- Publication type:
- Article
A Tale of Two Hearts: Patients with Decompensated Right Heart Failure in the Intensive Care Unit.
- Published in:
- 2017
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- Publication type:
- journal article
Iminosugar-Based Galactoside Mimics as Inhibitors of Galactocerebrosidase: SAR Studies and Comparison with Other Lysosomal Galactosidases.
- Published in:
- ChemMedChem, 2014, v. 9, n. 12, p. 2647, doi. 10.1002/cmdc.201402411
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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
A new form of sea-blue histiocytosis associated with progressive anterior horn cell and axonal degeneration.
- Published in:
- Annals of Neurology, 1984, v. 16, n. 2, p. 184, doi. 10.1002/ana.410160205
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- Publication type:
- Article
Clinical variation in 2 related children with neuronopathic Gaucher disease.
- Published in:
- Annals of Neurology, 1978, v. 3, n. 3, p. 281, doi. 10.1002/ana.410030316
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- Publication type:
- Article
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.
- Published in:
- Journal of Neurochemistry, 2006, v. 97, n. 6, p. 1585, doi. 10.1111/j.1471-4159.2006.03986.x
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- Publication type:
- Article
Niemann-Pick disease type C: Two cases and an update.
- Published in:
- Movement Disorders, 2000, v. 15, n. 6, p. 1199, doi. 10.1002/1531-8257(200011)15:6<1199::AID-MDS1020>3.0.CO;2-1
- By:
- Publication type:
- 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
Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy.
- Published in:
- Human Mutation, 1996, v. 7, n. 4, p. 311, doi. 10.1002/(SICI)1098-1004(1996)7:4<311::AID-HUMU4>3.0.CO;2-B
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- Publication type:
- Article
Molecular genetics of metachromatic leukodystrophy.
- Published in:
- Human Mutation, 1994, v. 4, n. 4, p. 233, doi. 10.1002/humu.1380040402
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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