Found: 27
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Fabry Disease – Underestimated in the Differential Diagnosis of Multiple Sclerosis?
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0071894
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- Article
Late-onset Tay-Sachs disease: The spectrum of peripheral neuropathy in 30 affected patients.
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- Muscle & Nerve, 2008, v. 38, n. 2, p. 1012, doi. 10.1002/mus.21061
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- Article
Krabbe's disease presenting as a peripheral neuropathy.
- Published in:
- 1997
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- Publication type:
- journal article
Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 5, p. 564, doi. 10.1007/s00415-004-0364-9
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- Article
Niemann-Pick variant lipidosis presenting as "neonatal hepatitis".
- Published in:
- 1986
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- Publication type:
- journal article
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 875, doi. 10.1038/ejhg.2008.34
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- Article
Early Detection of Lysosomal Storage Diseases.
- Published in:
- Annals of the New York Academy of Sciences, 1986, v. 477, n. 1, p. 312, doi. 10.1111/j.1749-6632.1986.tb40350.x
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- Publication type:
- Article
Biosensors for Brain Trauma and Dual Laser Doppler Flowmetry: Enoxaparin Simultaneously Reduces Stroke-Induced Dopamine and Blood Flow while Enhancing Serotonin and Blood Flow in Motor Neurons of Brain, In Vivo.
- Published in:
- Sensors (14248220), 2011, v. 11, n. 1, p. 138, doi. 10.3390/s11010013
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- Article
Laboratory approaches for inherited neurometabolic diseases.
- Published in:
- 1985
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- Publication type:
- journal article
CEREBROVASCULAR COMPLICATIONS OF FABRY DISEASE.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2006, v. 5, n. 4, p. 65
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- Publication type:
- Article
Mild‐onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.
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- Annals of Neurology, 2006, v. 59, n. 2, p. 428
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- Publication type:
- Article
Long-Term Follow-Up After Gene Therapy for Canavan Disease.
- Published in:
- Science Translational Medicine, 2012, v. 4, n. 165, p. 1, doi. 10.1126/scitranslmed.3003454
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- Publication type:
- Article
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
- Published in:
- American Journal of Hematology, 2017, v. 92, n. 9, p. 929, doi. 10.1002/ajh.24801
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- Publication type:
- Article
Correlation of Glioma Cell Regression with Inhibition of Insulin-Like Growth Factor 1 and Insulin-Like Growth Factor-Binding Protein-2 Expression.
- Published in:
- Neuroendocrinology, 1997, v. 66, n. 3, p. 203, doi. 10.1159/000127239
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- Publication type:
- Article
Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease.
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- Journal of Child Neurology, 2009, v. 24, n. 5, p. 618, doi. 10.1177/0883073808327833
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- Publication type:
- Article
Corticobasal degeneration and related disorders; Review of advances in neurology.
- Published in:
- Annals of Neurology, 2000, v. 48, n. 4, p. 688, doi. 10.1002/1531-8249(200010)48:4<688::AID-ANA23>3.0.CO;2-9
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- Publication type:
- Article
Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene.
- Published in:
- Annals of Neurology, 1997, v. 41, n. 1, p. 111, doi. 10.1002/ana.410410119
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- Publication type:
- Article
Fabry disease: Immunocytochemical characterization of neuronal involvement.
- Published in:
- Annals of Neurology, 1992, v. 31, n. 4, p. 409, doi. 10.1002/ana.410310410
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- Article
Electroconvulsive therapy treatment of depression in a patient with adult GM2 gangliosidosis.
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- Annals of Neurology, 1992, v. 31, n. 3, p. 342, doi. 10.1002/ana.410310320
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- Publication type:
- Article
Early cerebellar degeneration in twins with infantile neuroaxonal dystrophy.
- Published in:
- 1989
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- Publication type:
- journal article
Nervous system involvement in Fabry's disease: Clinicopathological and biochemical correlation.
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- Annals of Neurology, 1988, v. 23, n. 5, p. 505, doi. 10.1002/ana.410230513
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- Publication type:
- Article
The adrenoleukodystrophy-adrenomyeloneuropathy complex: Is it treatable?
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- Annals of Neurology, 1987, v. 21, n. 3, p. 230, doi. 10.1002/ana.410210303
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- Article
Inborn errors of metabolism.
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- Annals of Neurology, 1982, v. 11, n. 3, p. 221, doi. 10.1002/ana.410110302
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- Publication type:
- Article
Molecular basis of late-life globoid cell leukodystrophy.
- Published in:
- Human Mutation, 1999, v. 14, n. 3, p. 256, doi. 10.1002/(SICI)1098-1004(1999)14:3<256::AID-HUMU9>3.0.CO;2-6
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- Publication type:
- Article
Late-Onset Krabbe Disease (Globoid Cell Leukodystrophy): Clinical and Biochemical Features of 15 Cases.
- Published in:
- Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 232, doi. 10.1159/000112166
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- Article
Molecular Aspects of Gaucher Disease.
- Published in:
- Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 352, doi. 10.1159/000112185
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- Publication type:
- Article
Acute Confusional Migraine May Be a Presenting Feature of CADASIL.
- Published in:
- Headache: The Journal of Head & Face Pain, 2009, v. 49, n. 4, p. 590, doi. 10.1111/j.1526-4610.2009.01363.x
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- Publication type:
- Article