Works matching DE "METACHROMATIC leukodystrophy"
Results: 167
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)(Online Citation: Human Mutation, Mutation in Brief #661 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/661.pdf)
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- Human Mutation, 2003, v. 22, n. 5, p. 418, doi. 10.1002/humu.9190
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- Article
Spinal cord and cauda equina MRI findings in metachromatic leukodystrophy: case report.
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- Neuroradiology, 2005, v. 47, n. 8, p. 572, doi. 10.1007/s00234-005-1369-5
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- Article
Autoantibodies to cerebroside sulphate (sulphatide) in leprosy.
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- Clinical & Experimental Immunology, 1994, v. 98, n. 1, p. 145, doi. 10.1111/1365-2249.ep15985015
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- Article
Metakromatik Lökodistrofili Pediyatrik Bir Hastada Anestezi Yönetimi.
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- Journal of the Turkish Anaesthesiology & Intensive Care Society - JTAICS / Türk Anestezi ve Reanimasyon Dergisi, 2010, v. 38, n. 5, p. 383
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- Article
Adult metachromatic leukodystrophy: three cases with normal nerve conduction velocities in a family.
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- Acta Neurologica Scandinavica, 2002, v. 105, n. 6, p. 454, doi. 10.1034/j.1600-0404.2002.01257.x
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Seizures as a presenting feature of late onset metachromatic leukodystrophy.
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- Acta Neurologica Scandinavica, 2000, v. 102, n. 3, p. 192, doi. 10.1034/j.1600-0404.2000.102003192.x
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Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case.
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- Psychiatry & Clinical Neurosciences, 2011, v. 65, n. 1, p. 105, doi. 10.1111/j.1440-1819.2010.02169.x
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A case of adult onset metachromatic leukodystrophy.
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- 2009
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- Letter
Adult-type metachromatic leukodystrophy with a compound heterozygote mutation showing character change and dementia.
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- Psychiatry & Clinical Neurosciences, 1999, v. 53, n. 3, p. 425, doi. 10.1046/j.1440-1819.1999.00569.x
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- Article
Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations.
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- Developmental Medicine & Child Neurology, 2006, v. 48, n. 5, p. 383, doi. 10.1017/S001216220600082X
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Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice.
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- 2006
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- journal article
Microglia: a cellular vehicle for CNS gene therapy.
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- Journal of Clinical Investigation, 2006, v. 116, n. 11, p. 2857, doi. 10.1172/JCI30230
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- Article
General anesthesia safety in progressive leukodystrophies: A retrospective study of patients with Krabbe disease and metachromatic leukodystrophy.
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- Pediatric Anesthesia, 2019, v. 29, n. 10, p. 1053, doi. 10.1111/pan.13714
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- Article
Pathology of the Gallbladder in a Child with Metachromatic Leukodystrophy.
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- Pediatric & Developmental Pathology, 2015, v. 18, n. 3, p. 228, doi. 10.2350/14-09-1551-CR.1
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- Article
Selective lack of the C16:0 fatty acid isoform of sulfatide in pancreas of type II diabetic animal models.
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- APMIS, 2003, v. 111, n. 9, p. 867, doi. 10.1034/j.1600-0463.2003.1110905.x
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- Article
Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy.
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- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 6, p. 403, doi. 10.1002/acn3.420
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- Article
Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy.
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- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 9, p. 932, doi. 10.1002/acn3.232
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- Article
Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy.
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- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 5, p. 518, doi. 10.1002/acn3.193
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- Article
Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.
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- 2015
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- journal article
Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0313-y
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- Article
Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-18
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- Article
Comparison of Five Peptide Vectors for Improved Brain Delivery of the Lysosomal Enzyme Arylsulfatase A.
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- Journal of Neuroscience, 2014, v. 34, n. 9, p. 3122, doi. 10.1523/JNEUROSCI.4785-13.2014
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- Article
Lysosomal storage disorders: Present and future.
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- Indian Pediatrics, 2015, v. 52, n. 12, p. 1025, doi. 10.1007/s13312-015-0766-z
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- Article
Gallbladder Polyps in Metachromatic Leukodystrophy.
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- Fetal & Pediatric Pathology, 2018, v. 37, n. 2, p. 102, doi. 10.1080/15513815.2018.1424277
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- Article
Toward Reference Intervals of ARSA Activity in the Cerebrospinal Fluid: Implication for the Clinical Practice of Metachromatic Leukodystrophy.
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- Journal of Applied Laboratory Medicine, 2021, v. 6, n. 2, p. 354, doi. 10.1093/jalm/jfaa108
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- Article
Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype.
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- Human Molecular Genetics, 1998, v. 7, n. 8, p. 1215, doi. 10.1093/hmg/7.8.1215
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- Article
A novel SOX10 mutation in a patient with PCWH who developed hypoxic-ischemic encephalopathy after E. coli sepsis.
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- 2011
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- journal article
Increased concentration of the CSF Tau protein and its phosphorylated form in the late juvenile metachromatic leukodystrophy form: a case report.
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- Journal of Neural Transmission, 2012, v. 119, n. 7, p. 759, doi. 10.1007/s00702-012-0826-7
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- Article
Oligodendroglial Progenitor Cell Therapy Limits Central Neurological Deficits in Mice with Metachromatic Leukodystrophy.
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- Journal of Neuroscience, 2006, v. 26, n. 12, p. 3109, doi. 10.1523/JNEUROSCI.4366-05.2006
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- Article
Sulfatide with short fatty acid dominates in astrocytes and neurons.
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- FEBS Journal, 2006, v. 273, n. 8, p. 1782, doi. 10.1111/j.1742-4658.2006.05195.x
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- Article
Missense mutations as a cause of metachromatic leukodystrophy.
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- FEBS Journal, 2005, v. 272, n. 5, p. 1179, doi. 10.1111/j.1742-4658.2005.04553.x
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The neuronal metabolite NAA regulates histone H3 methylation in oligodendrocytes and myelin lipid composition.
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- Experimental Brain Research, 2017, v. 235, n. 1, p. 279, doi. 10.1007/s00221-016-4789-z
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- Article
Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy.
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- International Journal of Genomics, 2018, p. 1, doi. 10.1155/2018/2361068
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- Article
Leucodistrofia metacromatică forma juvenilă: cazul unor surori gemene.
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- Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2015, v. 18, n. 4, p. 67
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Poster 277 Metachromatic Leukodystrophy‐An Unusual Diagnosis in the Setting of Usual Low Back Pain: A Case Report.
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- 2012
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- Abstract
Demonstration of Specific Storage Material within Cutaneous Nerves in Metachromatic Leukodystrophy.
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- Journal of Cutaneous Pathology, 1978, v. 5, n. 1, p. 5, doi. 10.1111/j.1600-0560.1978.tb00931.x
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Metachromatic Leukodystrophy.
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- Journal of Child Neurology, 2016, v. 31, n. 13, p. 1457, doi. 10.1177/0883073816656401
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- Article
Outcome of Early Juvenile Onset Metachromatic Leukodystrophy After Unrelated Cord Blood Transplantation.
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- Journal of Child Neurology, 2016, v. 31, n. 3, p. 338, doi. 10.1177/0883073815595078
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- Article
Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options.
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- Acta Paediatrica, 2008, p. 15, doi. 10.1111/j.1651-2227.2008.00648.x
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- Article
In vitro correction of ARSA deficiency in human skin fibroblasts from Metachromatic Leukodystrophy patients after treatment with microencapsulated recombinant cells.
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- Metabolic Brain Disease, 2008, v. 23, n. 4, p. 469
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- Article
Tissue Binding Patterns and In Vitro Effects of Campylobacter jejuni DNA-Binding Protein from Starved Cells.
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- Neurochemical Research, 2011, v. 36, n. 1, p. 58, doi. 10.1007/s11064-010-0263-7
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- Article
Accumulation of lysosulfatide in the brain of arylsulfatase A-deficient mice.
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- Lipids in Health & Disease, 2011, v. 10, n. 1, p. 28, doi. 10.1186/1476-511X-10-28
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- Article
Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene.
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- Lipids in Health & Disease, 2006, v. 5, p. 21, doi. 10.1186/1476-511X-5-21
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- Article
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1.
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- Neurogenetics, 2006, v. 7, n. 1, p. 31, doi. 10.1007/s10048-005-0021-1
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- Article
Enfermedad de Van der Knaap (leucoencefalopatía megaencefálica con quistes subcorticales). Informe en un niño mexicano.
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- Acta Pediatrica de Mexico, 2011, v. 32, n. 6, p. 359
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- Article
Induction of Tolerance to Human Arylsulfatase A in a Mouse Model of Metachromatic Leukodystrophy.
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- Molecular Medicine, 2007, v. 13, n. 9/10, p. 471, doi. 10.2119/2007-00063Matzner
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- Article
Galectin-4 and sulfatides in apical membrane trafficking in enterocyte-like cells.
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- Journal of Cell Biology, 2005, v. 169, n. 3, p. 491, doi. 10.1083/jcb.200407073
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- Article
Kidney dysfunction induced by protein overload nephropathy reduces serum sulfatide levels in mice.
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- Nephrology, 2009, v. 14, n. 7, p. 658, doi. 10.1111/j.1440-1797.2009.01116.x
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- Article
Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy.
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- Journal of Human Genetics, 2012, v. 57, n. 10, p. 687, doi. 10.1038/jhg.2012.97
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- Article
Molecular bases of metachromatic leukodystrophy in Polish patients.
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- Journal of Human Genetics, 2010, v. 55, n. 6, p. 394, doi. 10.1038/jhg.2010.25
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- Article