Works matching DE "GAUCHER'S disease diagnosis"
Results: 70
Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics.
- Published in:
- Indian Pediatrics, 2018, v. 55, n. 2, p. 143, doi. 10.1007/s13312-018-1249-9
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- Publication type:
- Article
Diffusion-Weighted Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features of Abdominal Viscera in a Patient with Gaucher's Disease.
- Published in:
- Malaysian Journal of Medical Sciences, 2014, v. 21, n. 3, p. 89
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- Publication type:
- Article
Platelet Counts and Interleukin-6 (IL-6) Promoter Polymorphism in Patients with Gaucher Disease.
- Published in:
- Hematology, 2003, v. 8, n. 6, p. 367, doi. 10.1080/10245330310001621297
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- Publication type:
- Article
Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative.
- Published in:
- Internal Medicine Journal, 2019, v. 49, n. 5, p. 578, doi. 10.1111/imj.14156
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- Publication type:
- Article
Aortic and Mitral Valve Stenosis with Regurgitation: Not Due to Rheumatic Heart Disease.
- Published in:
- Echocardiography, 2011, v. 28, n. 2, p. E24, doi. 10.1111/j.1540-8175.2010.01253.x
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- Publication type:
- Article
Are There Neurological Symptoms in Type 1 of Gaucher Disease?
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- Iranian Journal of Child Neurology, 2018, v. 12, n. 2, p. 99
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- Publication type:
- Article
Diagnostic Methods for Gaucher Disease.
- Published in:
- 2015
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- Publication type:
- Abstract
A case of unusual association of Gaucher's disease with spinal tuberculosis.
- Published in:
- International Journal of Rheumatic Diseases, 2013, v. 16, n. 3, p. 361, doi. 10.1111/j.1756-185X.2012.01749.x
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- Publication type:
- Article
Gaucher disease diagnosed after bone marrow trephine biopsy - a report of two cases.
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- Folia Histochemica et Cytobiologica, 2011, v. 49, n. 2, p. 352, doi. 10.5603/FHC.2011.0048
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- Publication type:
- Article
Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.
- Published in:
- 2017
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- Publication type:
- journal article
FLOW CYTOMETRIC ANALYSIS AS A QUICK AND EFFICIENT METHOD FOR MORPHOLOGICAL CHANGES DETERMINATION IN HEMATOLOGICAL DISEASES. RBCs OF GAUCHER DISEASE AS A MODEL.
- Published in:
- Studia Universitatis Vasile Goldis Seria Stiintele Vietii (Life Sciences Series), 2010, v. 20, n. 2, p. 5
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- Publication type:
- Article
α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.
- Published in:
- Molecular Neurodegeneration, 2018, v. 12, p. 1, doi. 10.1186/s13024-017-0233-5
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- Publication type:
- Article
From Bone Marrow Necrosis to Gaucher Disease; A Long Way to Run.
- Published in:
- 2015
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- Publication type:
- Case Study
Gaucher Disease and Gaucher Cells.
- Published in:
- 2015
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- Publication type:
- Letter to the Editor
Hemophagocytic Lymphohistiocytosis Syndrome Associated with Gaucher Disease Type 2.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Progression of retinal changes in Gaucher disease: a case report.
- Published in:
- Eye, 2013, v. 27, n. 11, p. 1331, doi. 10.1038/eye.2013.180
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- Publication type:
- Article
Investigations on therapeutic glucocerebrosidases through paired detection with fluorescent activity-based probes.
- Published in:
- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0170268
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- Publication type:
- Article
Diagnosis of severe Type 1 Gaucher’s disease before irreversible damage occurs : is HDL cholesterol the answer?
- Published in:
- 2010
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- Publication type:
- Letter
Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis.
- Published in:
- British Journal of Haematology, 2009, v. 147, n. 4, p. 561, doi. 10.1111/j.1365-2141.2009.07872.x
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- Publication type:
- Article
Successful Desensitization to Imiglucerase of an Adult Patient Diagnosed with Type I Gaucher Disease.
- Published in:
- International Archives of Allergy & Immunology, 2013, v. 160, n. 2, p. 215, doi. 10.1159/000339754
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- Publication type:
- Article
Quantifying the Erlenmeyer flask deformity.
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- British Journal of Radiology, 2012, v. 85, n. 1015, p. 905, doi. 10.1259/bjr/33890893
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- Publication type:
- Article
Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance.
- Published in:
- 2000
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- Publication type:
- journal article
Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 5, p. 276, doi. 10.1038/jhg.2014.16
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- Publication type:
- Article
Gaucher disease.
- Published in:
- JAMA: Journal of the American Medical Association, 1996, v. 275, n. 7, p. 548
- Publication type:
- Article
Inborn Errors of Metabolism in Elderly Adults.
- Published in:
- 2016
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- Publication type:
- Letter to the Editor
images in haematology Cytochemical diagnosis of Gaucher's disease by iron stain.
- Published in:
- British Journal of Haematology, 2004, v. 124, n. 6, p. 696, doi. 10.1046/j.1365-2141.2003.04695.x
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- Publication type:
- Article
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.
- Published in:
- 2015
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- Publication type:
- journal article
Overall assessment of patients with type 1 Gaucher disease: a single-centre's experience.
- Published in:
- Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00019-6
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- Publication type:
- Article
Pediatric Gaucher Disease Type 3 Presenting with Oculomotor Apraxia: A Case Report.
- Published in:
- Children, 2024, v. 11, n. 8, p. 960, doi. 10.3390/children11080960
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- Publication type:
- Article
Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma.
- Published in:
- Children, 2023, v. 10, n. 5, p. 869, doi. 10.3390/children10050869
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- Publication type:
- Article
Fat fraction quantification of bone marrow in the lumbar spine using the LiverLab assessment tool in healthy adult volunteers and patients with Gaucher disease.
- Published in:
- Internal Medicine Journal, 2023, v. 53, n. 7, p. 1163, doi. 10.1111/imj.15858
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- Publication type:
- Article
Cross‐sectional web‐based survey among haematologists and gastroenterologists in Japan to identify the key factors for early diagnosis of Gaucher disease.
- Published in:
- Internal Medicine Journal, 2023, v. 53, n. 6, p. 930, doi. 10.1111/imj.15790
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- Publication type:
- Article
Enzyme replacement therapy leading to improvement in myeloma indices in a patient with concomitant Gaucher disease.
- Published in:
- Internal Medicine Journal, 2022, v. 52, n. 5, p. 872, doi. 10.1111/imj.15781
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- Publication type:
- Article
Scoring system to facilitate diagnosis of Gaucher disease.
- Published in:
- Internal Medicine Journal, 2020, v. 50, n. 12, p. 1538, doi. 10.1111/imj.14942
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- Publication type:
- Article
Corrigendum.
- Published in:
- 2019
- Publication type:
- Correction Notice
Challenges in the Diagnosis of Gaucher Disease with Multiple Splenic Lesions.
- Published in:
- Journal of Applied Hematology, 2023, v. 14, n. 2, p. 171, doi. 10.4103/joah.joah_36_23
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- Publication type:
- Article
Gaucher disease.
- Published in:
- International Journal of Child Health & Human Development, 2020, v. 13, n. 2, p. 161
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- Publication type:
- Article
Vitamin D Receptor (VDR) Polymorphisms in the Cardiac Variant of Gaucher Disease.
- Published in:
- Pediatric Cardiology, 2010, v. 31, n. 1, p. 30, doi. 10.1007/s00246-009-9538-7
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- Publication type:
- Article
Using the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi Score in a Real-World Dataset.
- Published in:
- International Journal of Translational Medicine, 2022, v. 2, n. 3, p. 506, doi. 10.3390/ijtm2030037
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- Publication type:
- Article
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 3, doi. 10.3390/ijns10010003
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- Publication type:
- Article
Carrier Screening for Gaucher Disease.
- Published in:
- 2007
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- Publication type:
- Editorial
PATIENTS WITH GAUCHER DISEASE: RESULTS OF LONG FOLLOW UP.
- Published in:
- Erciyes Medical Journal / Erciyes Tip Dergisi, 2018, v. 40, n. 1, p. S23
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- Publication type:
- Article
Gaucher disease: Recent advances in the diagnosis and management.
- Published in:
- Medical Journal of Viral Hepatitis, 2022, v. 6, n. 2, p. 6
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- Publication type:
- Article
Incidence of 4 Lysosomal Storage Disorders From 4 Years of Newborn Screening.
- Published in:
- JAMA Pediatrics, 2018, v. 172, n. 7, p. 696, doi. 10.1001/jamapediatrics.2018.0263
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- Publication type:
- Article
Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada.
- Published in:
- International Journal of Neuroscience, 2016, v. 126, n. 5, p. 415, doi. 10.3109/00207454.2015.1023436
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- Publication type:
- Article
Perinatal-lethal Gaucher disease presenting as hydrops fetalis.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Gaucher disease screening at a general adult hematology tertiary care centre: A prospective study.
- Published in:
- 2019
- By:
- Publication type:
- Letter to the Editor
Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease.
- Published in:
- Neuroradiology, 2018, v. 60, n. 12, p. 1353, doi. 10.1007/s00234-018-2116-z
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- Publication type:
- Article
Altered brain functional network in children with type 1 Gaucher disease: a longitudinal graph theory-based study.
- Published in:
- Neuroradiology, 2019, v. 61, n. 1, p. 63, doi. 10.1007/s00234-018-2104-3
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- Publication type:
- Article