Works matching DE "CEREBROSIDE metabolism disorders"
Results: 46
Aggregation of red blood cells in patients with Gaucher disease.
- Published in:
- British Journal of Haematology, 2006, v. 134, n. 4, p. 432, doi. 10.1111/j.1365-2141.2006.06199.x
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- Publication type:
- Article
A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 275, doi. 10.1007/s00439-005-1288-x
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- Publication type:
- Article
Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients.
- Published in:
- Human Genetics, 2003, v. 112, n. 4, p. 426, doi. 10.1007/s00439-002-0894-0
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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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- Article
Gaucher's Disease: Neurologic Disorder in Adult Siblings.
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- Annals of Internal Medicine, 1973, v. 78, n. 6, p. 883, doi. 10.7326/0003-4819-78-6-883
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- Publication type:
- Article
Gaucher Disease and Cancer: Concept and Controversy.
- Published in:
- International Journal of Cell Biology, 2011, v. 2011, p. 1, doi. 10.1155/2011/150450
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- Publication type:
- Article
Enzyme replacement therapy for Gaucher's disease: the early Canadian experience.
- Published in:
- 1998
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- Publication type:
- journal article
Morbus Gaucher -- prikaz dva bolesnika.
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- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2006, v. 63, n. 12, p. 1039, doi. 10.2298/VSP0612039D
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- Article
Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress.
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- Journal of Cellular Physiology, 2007, v. 212, n. 1, p. 223, doi. 10.1002/jcp.21023
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- Article
Survey of hematological aspects of Gaucher disease.
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- Hematology, 2005, v. 10, n. 2, p. 151, doi. 10.1080/10245330500067181
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- Publication type:
- Article
Quality of life related to type 1 Gaucher disease: Spanish experience.
- Published in:
- 2005
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- Publication type:
- journal article
A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 4, p. 220, doi. 10.1007/s10038-004-0134-7
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- Publication type:
- Article
The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat.
- Published in:
- Xenobiotica, 2007, v. 37, n. 3, p. 298, doi. 10.1080/00498250601094543
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- Publication type:
- Article
DENTAL OBSERVATIONS IN GAUCHER'S DISEASE.
- Published in:
- Journal of Dental Research, 1938, v. 17, n. 5, p. 359, doi. 10.1177/00220345380170050201
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- Publication type:
- Article
PERINATAL LETHAL GAUCHER DISEASE: A DISTINCT PHENOTYPE ALONG THE NEURONOPATHIC CONTINUUM.
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- Fetal & Pediatric Pathology, 2005, v. 24, n. 4/5, p. 205, doi. 10.1080/15227950500405296
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- Publication type:
- Article
Enfermedad de Gaucher neuronopática tipo III. Revisión de la literatura y presentación de un caso tratado con enzima recombinante humana.
- Published in:
- Revista Mexicana de Neurociencia, 2007, v. 8, n. 3, p. 261
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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.
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- European Spine Journal, 2003, v. 12, n. 1, p. 97, doi. 10.1007/s00586-002-0399-5
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- Publication type:
- Article
Bone marrow involvement in Gaucher disease at MRI : what long-term evolution can we expect under enzyme replacement therapy?
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- European Radiology, 2015, v. 25, n. 10, p. 2969, doi. 10.1007/s00330-015-3715-2
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- Article
Gaucher disease: a lysosomal neurodegenerative disorder.
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- European Review for Medical & Pharmacological Sciences, 2015, v. 19, n. 7, p. 1219
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- Publication type:
- Article
Fatal Bleeding from Esophageal Varices in a Patient with Gaucher's Disease.
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- American Journal of Gastroenterology (Springer Nature), 1982, v. 77, n. 11, p. 838
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- Article
Alpha-synuclein induces lysosomal rupture and cathepsin dependent reactive oxygen species following endocytosis.
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- 2013
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- Publication type:
- Opinion
Expanding spectrum of the association between type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types correlation with genotype and phenotype.
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- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 26
- Publication type:
- Article
Image-guided, direct convective delivery of glucocerebrosidase for neuronopathic Gaucher disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 59
- Publication type:
- Article
Enzyme replacement therapy for Gaucher disease in Australia.
- Published in:
- Internal Medicine Journal, 2005, v. 35, n. 3, p. 156, doi. 10.1111/j.1445-5994.2004.00765.x
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- Publication type:
- Article
POLIMORFISMUL APOPROTEINEI E LA PACIENŢII CU BOALĂGAUCHER TIP I.
- Published in:
- Clujul Medical, 2009, v. 82, n. 4, p. 586
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- Publication type:
- Article
Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular models.
- Published in:
- FASEB Journal, 2015, v. 29, n. 9, p. 3839, doi. 10.1096/fj.15-271148
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- Publication type:
- Article
Classification-based comparison of pre-processing methods for interpretation of mass spectrometry generated clinical datasets.
- Published in:
- Proteome Science, 2009, v. 7, p. 1, doi. 10.1186/1477-5956-7-19
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- Publication type:
- Article
Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat.
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- Skeletal Radiology, 2014, v. 43, n. 10, p. 1353, doi. 10.1007/s00256-014-1891-9
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- Publication type:
- Article
Extraosseous Gaucher cell deposition without adjacent bone involvement.
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- Skeletal Radiology, 2014, v. 43, n. 10, p. 1495, doi. 10.1007/s00256-014-1927-1
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- Publication type:
- Article
Radiological aspects of Gaucher disease.
- Published in:
- 2011
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- Publication type:
- journal article
Production of glucocerebrosidase with terminal mannose glycans for enzyme replacement therapy of Gaucher's disease using a plant cell system.
- Published in:
- Plant Biotechnology Journal, 2007, v. 5, n. 5, p. 579, doi. 10.1111/j.1467-7652.2007.00263.x
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- Publication type:
- Article
Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring.
- Published in:
- 2004
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- Publication type:
- journal article
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.
- Published in:
- European Journal of Pediatrics, 2004, v. 163, n. 2, p. 58
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- Publication type:
- Article
Gaucher's disease with uncommon presentations.
- Published in:
- 2009
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- Case Study
Gaucher disease in a 53-year-old Iranian man.
- Published in:
- 2013
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- Publication type:
- Letter
Unusual presentation of adult Gaucher's disease: A long and difficult road to diagnosis.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2011, v. 15, n. 3, p. 224, doi. 10.4103/2230-8210.83415
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- Publication type:
- Article
Gaucher's disease.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2011, v. 15, n. 3, p. 182, doi. 10.4103/2230-8210.83402
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- Publication type:
- Article
Cytokines in Gaucher disease: Role in the pathogenesis of bone and pulmonary disease.
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- Egyptian Journal of Medical Human Genetics, 2015, v. 16, n. 3, p. 207, doi. 10.1016/j.ejmhg.2015.02.001
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- Publication type:
- Article
Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3).
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0280-3
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- Publication type:
- Article
Reducing selection bias in case-control studies from rare disease registries.
- Published in:
- 2011
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- Publication type:
- journal article
Bilateral lung transplant in Gauchers type-1 disease.
- Published in:
- Pediatric Transplantation, 2005, v. 9, n. 2, p. 239, doi. 10.1111/j.1399-3046.2005.00251.x
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- Publication type:
- Article
Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients.
- Published in:
- FEBS Journal, 2006, v. 273, n. 17, p. 4082, doi. 10.1111/j.1742-4658.2006.05410.x
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- Publication type:
- Article
Multiple Lytic Bone Lesions in an 85-Year-Old Man.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2005, v. 129, n. 6, p. e148, doi. 10.5858/2005-129-e148-mlblia
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- Publication type:
- Article
A 6-Year-Old Girl With Thrombocytopenia.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2003, v. 127, n. 7, p. e305, doi. 10.5858/2003-127-e305-pqcayo
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- Publication type:
- Article
In Vivo and Ex Vivo Evaluation of L-Type Calcium Channel Blockers on Acid β-Glucosidase in Gaucher Disease Mouse Models.
- Published in:
- PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007320
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- Publication type:
- Article
Study of Multimodal Evoked Potentials in Patients With Type 1 Gaucher's Disease.
- Published in:
- Journal of Child Neurology, 2005, v. 20, n. 2, p. 124, doi. 10.1177/08830738050200020801
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- Publication type:
- Article