Works matching DE "METACHROMATIC leukodystrophy"
Results: 167
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
Lysosomal sulfoglycolipid storage in the kidneys of mice deficient for arylsulfatase A (ASA) and of double-knockout mice deficient for ASA and galactosylceramide synthase.
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- Histochemistry & Cell Biology, 2001, v. 116, n. 2, p. 161, doi. 10.1007/s004180100286
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- Article
Infantile Metachromatic Leukodystrophy: Case Report.
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- 2023
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- Case Study
Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population.
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- 2016
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- Publication type:
- journal 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
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
Hematopoietic SCT: a useful treatment for late metachromatic leukodystrophy.
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- Bone Marrow Transplantation, 2014, v. 49, n. 8, p. 1046, doi. 10.1038/bmt.2014.93
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- Article
Juvenile metachromatic leukodystrophy 10 years post transplant compared with a non-transplanted cohort.
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- Bone Marrow Transplantation, 2013, v. 48, n. 3, p. 369, doi. 10.1038/bmt.2012.155
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- Article
Adult metachromatic leukodystrophy treated by allo-SCT and a review of the literature.
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- Bone Marrow Transplantation, 2011, v. 46, n. 8, p. 1071, doi. 10.1038/bmt.2010.252
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- Article
Metachromatic leukodystrophy: an overview of current and prospective treatments.
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- Bone Marrow Transplantation, 2008, v. 42, p. S2, doi. 10.1038/bmt.2008.275
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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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- Article
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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- Article
Inhibition of influenza A virus sialidase activity by sulfatide
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- FEBS Letters, 2003, v. 553, n. 3, p. 355, doi. 10.1016/S0014-5793(03)01045-7
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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
Intrathecal baclofen in metachromatic leukodystrophy.
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- 2019
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- Publication type:
- Case Study
The natural course of gross motor deterioration in metachromatic leukodystrophy.
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- Developmental Medicine & Child Neurology, 2011, v. 53, n. 9, p. 850, doi. 10.1111/j.1469-8749.2011.04028.x
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- Article
Evaluating experimental treatment of leukodystrophies.
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- Developmental Medicine & Child Neurology, 2011, v. 53, n. 9, p. 781, doi. 10.1111/j.1469-8749.2011.04022.x
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- Article
LeukodystrophiesInternational Review of Child Neurology Series.
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- 2011
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- Book Review
Development and reliability of a classification system for gross motor function in children with metachromatic leucodystrophy.
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- Developmental Medicine & Child Neurology, 2011, v. 53, n. 2, p. 156, doi. 10.1111/j.1469-8749.2010.03821.x
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- Article
A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene.
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- Developmental Medicine & Child Neurology, 2007, v. 49, n. 1, p. 65, doi. 10.1017/S0012162207000163.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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- Article
Sulfatide is expressed in neurons and astrocytes and accumulates at degradation deficiency.
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- Journal of Neurochemistry, 2003, v. 85, p. 34, doi. 10.1046/j.1471-4159.85.s2.22_4.x
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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
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
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
Diffusion-weighted MR imaging in leukodystrophies.
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- 2005
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- Publication type:
- journal article
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.
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- Human Genetics, 2002, v. 110, n. 4, p. 351, doi. 10.1007/s00439-002-0701-y
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- Article
Acetobacter indonesiensis Bacteremia in Child with Metachromatic Leukodystrophy.
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- 2016
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- Publication type:
- Case Study
Classical case of late-infantile form of metachromatic leukodystrophy.
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- 2016
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- Publication type:
- Case Study
Metachromatic Leucodystrophy: A Case Report.
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- 2011
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- Publication type:
- Case Study
Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis.
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- European Journal of Neurology, 2002, v. 9, n. 6, p. 663, doi. 10.1046/j.1468-1331.2002.00469.x
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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
Masqueraders of Cerebral Palsy-interesting cases.
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- Annals of Indian Academy of Neurology, 2008, v. 11, p. S178
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- Article
Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.
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- Folia Neuropathologica, 2006, v. 44, n. 2, p. 144
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- Article
INFANTILE MITOCHONDRIAL LEUKODYSTROPHY -- A CASE REPORT.
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- 2005
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- Abstract
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
Trial watch: Clinical trial boost for lentiviral gene therapy.
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- Nature Reviews Drug Discovery, 2013, v. 12, n. 9, p. 654, doi. 10.1038/nrd4111
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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
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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- 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
Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis.
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- Journal of Human Genetics, 2001, v. 46, n. 10, p. 579, doi. 10.1007/s100380170024
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- Publication type:
- Article
Transduction of fibroblasts and CD34+ progenitors using a selectable retroviral vector containing cDNAs encoding arylsulfatase A and CD24.
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- Journal of Human Genetics, 2000, v. 45, n. 1, p. 18, doi. 10.1007/s100380050004
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- Article
Mesenchymal stem cells.
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- Bone Marrow Transplantation, 2002, v. 30, n. 4, p. 215
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- Publication type:
- Article
Improved peripheral nerve conduction, EEG and verbal IQ after bone marrow transplantation for adult metachromatic leukodystrophy.
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- Bone Marrow Transplantation, 1998, v. 22, n. 11, p. 1119, doi. 10.1038/sj.bmt.1701485
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- Article
Engraftment following in utero bone marrow transplantation for globoid cell leukodystrophy.
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- Bone Marrow Transplantation, 1997, v. 19, n. 4, p. 399, doi. 10.1038/sj.bmt.1700665
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- Article
Adult-onset metachromatic leukodystrophy with compound heterozygous ARSA gene mutation presented with mania and cognitive decline.
- Published in:
- 2016
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- Publication type:
- Case Study
N-CAM Dysfunction and Unexpected Accumulation of PSA-NCAM in Brain of Adult-Onset Autosomal-Dominant Leukodystrophy.
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- Brain Pathology, 2010, v. 20, n. 2, p. 431, doi. 10.1111/j.1750-3639.2009.00313.x
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- Publication type:
- Article
Sulfatide controls insulin secretion by modulation of ATP-sensitive K(+)-channel activity and Ca(2+)-dependent exocytosis in rat pancreatic beta-cells.
- Published in:
- 2002
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- Publication type:
- journal article