Works matching DE "SPHINGOLIPIDOSES"
Results: 130
LIPOIDOSES.
- Published in:
- British Journal of Dermatology, 1955, v. 67, n. 12, p. 457
- By:
- Publication type:
- Article
Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases.
- Published in:
- Nature Cell Biology, 1999, v. 1, n. 6, p. 386, doi. 10.1038/14084
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- Publication type:
- Article
Gaucher Disease: An overview in relation to cases treated in Al Emamayn Al Khadimayn Medical City, Rare disease unit.
- Published in:
- EurAsian Journal of Biosciences, 2020, v. 14, n. 1, p. 2279
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- Publication type:
- Article
The Ethics of Krabbe Newborn Screening.
- Published in:
- Public Health Ethics, 2013, v. 6, n. 1, p. 114, doi. 10.1093/phe/phs033
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- Publication type:
- Article
Krabbe Newborn Screening: The Issue of Informed Consent.
- Published in:
- Public Health Ethics, 2013, v. 6, n. 1, p. 126, doi. 10.1093/phe/pht009
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- Publication type:
- Article
Ultra-performance liquid chromatography/tandem mass spectrometry for determination of sulfatides in dried blood spots from patients with metachromatic leukodystrophy.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2014, v. 28, n. 6, p. 587, doi. 10.1002/rcm.6823
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- Publication type:
- Article
The Sphingolipid Psychosine Inhibits Fast Axonal Transport in Krabbe Disease by Activation of GSK3β and Deregulation of Molecular Motors.
- Published in:
- Journal of Neuroscience, 2013, v. 33, n. 24, p. 10048, doi. 10.1523/JNEUROSCI.0217-13.2013
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- Publication type:
- Article
Progressive intellectual and neurological disorders: can surveillance lead to improved outcomes?
- Published in:
- 2017
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- Publication type:
- journal article
Angiokeratoma with lysosomal dilatation in keratinocytes in a dog: a case report.
- Published in:
- 2014
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- Publication type:
- Case Study
Angiokeratoma corporis diffusum.
- Published in:
- Indian Pediatrics, 2015, v. 52, n. 2, p. 175, doi. 10.1007/s13312-015-0601-6
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- Publication type:
- Article
Extracellular production of a sphingomyelinase from Streptomyces griseocarneus using Streptomyces lividans.
- Published in:
- Biotechnology Letters, 2011, v. 33, n. 4, p. 727, doi. 10.1007/s10529-010-0480-9
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- Publication type:
- Article
Gene rearrangement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.
- Published in:
- Human Genetics, 2000, v. 107, n. 4, p. 400, doi. 10.1007/s004390000380
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- Publication type:
- Article
Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.
- Published in:
- Human Genetics, 2000, v. 107, n. 1, p. 12, doi. 10.1007/s004390050003
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- Publication type:
- Article
Guillain - Barré syndrome associated with monosialotetrahexosylganglioside: three cases study and literature review.
- Published in:
- 2013
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- Publication type:
- Back Cover
Hypohidrosis: an early clue in the diagnosis of Fabry disease.
- Published in:
- Clinical & Experimental Dermatology, 2015, v. 40, n. 4, p. 444, doi. 10.1111/ced.12501
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- Publication type:
- Article
Angiokeratoma corporis diffusum in a patient with normal enzyme activities and Turner's syndrome.
- Published in:
- Clinical & Experimental Dermatology, 1992, v. 17, n. 1, p. 56, doi. 10.1111/j.1365-2230.1992.tb02537.x
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- Publication type:
- Article
Reversal of an Inborn Sphingolipidosis (Fabry's Disease) by Kidney Transplantation.
- Published in:
- Annals of Internal Medicine, 1972, v. 77, n. 2, p. 195, doi. 10.7326/0003-4819-77-2-195
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- Publication type:
- Article
GM1-generalized gangliosidosis variant with cardiomegaly.
- Published in:
- 1976
- By:
- Publication type:
- journal article
I-cell disease--mucolipidosis II.
- Published in:
- 1973
- By:
- Publication type:
- journal article
Where leukodystrophy and storage disorder meet: A rare cause of neurodegeneration.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Neurodegeneration with Progressive Dystonia: Juvenile-Onset Tay--Sachs Disease.
- Published in:
- 2022
- By:
- Publication type:
- Letter to the Editor
Cysts in White Matter: A Novel Neuroimaging Finding in Infantile GM1 Gangliosidosis.
- Published in:
- 2018
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- Publication type:
- Case Study
Sphingomyelin Degradation is a Key Factor in Dentin and Bone Mineralization: Lessons from the fro/froMouse.
- Published in:
- Journal of Dental Research, 2008, v. 87, n. 1, p. 9, doi. 10.1177/154405910808700103
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- Publication type:
- Article
Sphingolipid lysosomal storage disorders.
- Published in:
- Nature, 2014, v. 510, n. 7503, p. 68, doi. 10.1038/nature13476
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- Publication type:
- Article
Effects of inhibitors of key enzymes of sphingolipid metabolism on insulin-induced glucose uptake and glycogen synthesis in liver cells of old rats.
- Published in:
- Biochemistry (00062979), 2015, v. 80, n. 1, p. 104, doi. 10.1134/S0006297915010125
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- Publication type:
- Article
Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 6, p. 548, doi. 10.1007/s10038-006-0396-3
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- Publication type:
- Article
Sfingolipit depo hastalıklarında enzim inhibitörlerinin tedavide kullanımları.
- Published in:
- Cocuk Sagligi ve Hastaliklari Dergisi, 2010, v. 53, n. 3, p. 236
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- Publication type:
- Article
Extensive telangiectasias and mongolian spots: A clue towards GM1-gangliosidosis.
- Published in:
- Indian Journal of Dermatology, 2023, v. 68, n. 5, p. 573, doi. 10.4103/ijd.ijd_52_23
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- Publication type:
- Article
GM1 GANGLIOSIDOSIS ASSOCIATED WITH NEONATAL-ONSET OF DIFFUSE ECCHYMOSES AND MONGOLIAN SPOTS.
- Published in:
- Indian Journal of Dermatology, 2011, v. 56, n. 1, p. 98, doi. 10.4103/0019-5154.77567
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- Publication type:
- Article
Successful pregnancy outcome in a patient with Gaucher's disease and antiphospholipid syndrome.
- Published in:
- 2002
- By:
- Publication type:
- journal article
ApoCIII-Enriched LDL in Type 2 Diabetes Displays Altered Lipid Composition, Increased Susceptibility for Sphingomyelinase, and Increased Binding to Biglycan.
- Published in:
- Diabetes, 2009, v. 58, n. 9, p. 2018, doi. 10.2337/db09-0206
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- Publication type:
- Article
Fabry disease - importance of screening in cornea verticillata: case report.
- Published in:
- Arquivos Brasileiros de Oftalmologia, 2011, v. 74, n. 6, p. 447, doi. 10.1590/S0004-27492011000600014
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- Publication type:
- Article
Innate immune responses in the brain of sphingolipid lysosomal storage diseases.
- Published in:
- Biological Chemistry, 2015, v. 396, n. 6/7, p. 659, doi. 10.1515/hsz-2014-0301
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- Publication type:
- Article
Characterization of the Sphingolipidome of the Peri-Infarct Tissue during Hemorrhagic Transformation in a Mouse Model of Cerebral Ischemia.
- Published in:
- Journal of Integrative Neuroscience, 2022, v. 21, n. 6, p. 1, doi. 10.31083/j.jin2106161
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- Publication type:
- Article
Mesenteric mass in a young girl – an unusual site for Gaucher's disease.
- Published in:
- Pediatric Radiology, 2002, v. 32, n. 9, p. 674, doi. 10.1007/s00247-002-0761-0
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- Publication type:
- Article
Severe pathologic compression of three consecutive vertebrae in Gaucher's disease: a case report and review of the literature.
- Published in:
- European Spine Journal, 2003, v. 12, n. 1, p. 97, doi. 10.1007/s00586-002-0399-5
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- Publication type:
- Article
An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, p. 12, doi. 10.4274/jpr.87609
- By:
- Publication type:
- Article
A132: Farber Disease Explains Subset of Juvenile Idiopathic Arthritis.
- Published in:
- Arthritis & Rheumatology, 2014, v. 66, p. S173, doi. 10.1002/art.38553
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- Publication type:
- Article
FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease.
- Published in:
- Clinical Kidney Journal, 2016, v. 9, n. 5, p. 739, doi. 10.1093/ckj/sfw082
- By:
- Publication type:
- Article
Syndromic Conundrums in Diabetes: Seek and Ye Shall Find: The Dorfman-Chanarin Syndrome.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients.
- Published in:
- Annals of Human Genetics, 2003, v. 67, n. 1, p. 63, doi. 10.1046/j.1469-1809.2003.00009.x
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- Publication type:
- Article
Niemann-Pick hastalaca tip A ve tip B: İki olgu sunumu.
- Published in:
- Marmara Medical Journal, 2014, v. 27, n. 1, p. 54, doi. 10.5472/MMJ.2013.02845.2
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- Publication type:
- Article
Fabry Disease Presenting with Multiple Hemorrhagic Cerebral Infarction.
- Published in:
- Neuroradiology Journal, 2012, v. 25, n. 1, p. 30, doi. 10.1177/197140091202500104
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- Publication type:
- Article
ACETYLCYSTEINE MODULATES SPHINGOLIPID LEVELS BY INHIBITING NEUTRAL SPHINGOMYELINASE DURING AGING IN RAT TISSUES.
- Published in:
- Acta Poloniae Pharmaceutica, 2023, v. 80, n. 1, p. 45, doi. 10.32383/appdr/162546
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- Publication type:
- Article
Asthma and obesity in the Middle East region: An overview.
- Published in:
- Annals of Thoracic Medicine, 2019, v. 14, n. 2, p. 116, doi. 10.4103/atm.ATM_115_18
- By:
- Publication type:
- Article
Reproducibility of manual and semi-automated late enhancement quantification in patients with Fabry disease.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Natural History of Adult Patients with GM2 Gangliosidosis.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Eyeing the spots and the spot in the eye: GM1 gangliosidosis.
- Published in:
- Journal of Pediatric Neurosciences, 2022, v. 17, n. 1, p. 85, doi. 10.4103/jpn.JPN_173_20
- By:
- Publication type:
- Article
Electroneurography and advanced neuroimaging profile in pediatric-onset metachromatic leukodystrophy.
- Published in:
- Journal of Pediatric Neurosciences, 2019, v. 14, n. 2, p. 70, doi. 10.4103/jpn.JPN_155_18
- By:
- Publication type:
- Article
Extensive Mongolian spots in a hypotonic infant with GM1 gangliosidosis.
- Published in:
- Journal of Pediatric Neurosciences, 2018, v. 13, n. 3, p. 346, doi. 10.4103/JPN.JPN_180_17
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- Publication type:
- Article