Works matching DE "GAUCHER'S disease diagnosis"
Results: 71
Diffusion-Weighted Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features of Abdominal Viscera in a Patient with Gaucher's Disease.
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- Malaysian Journal of Medical Sciences, 2014, v. 21, n. 3, p. 89
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- Publication type:
- Article
Small Bowel Mucosal Involvement and Mesenteric Mass Formation in a Young Female with Type 3 Gaucher Disease. A.
- Published in:
- 2018
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- Publication type:
- Case Study
Gaucher disease screening at a general adult hematology tertiary care centre: A prospective study.
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- 2019
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- Publication type:
- Letter to the Editor
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.
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- 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
Osteopontin: a potential biomarker of Gaucher disease.
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- Annals of Hematology, 2015, v. 94, n. 7, p. 1119, doi. 10.1007/s00277-015-2354-7
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- Publication type:
- Article
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.
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- Indian Pediatrics, 2018, v. 55, n. 2, p. 143, doi. 10.1007/s13312-018-1249-9
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- Article
Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance.
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- 2000
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- Publication type:
- journal article
Sinais e sintomas na Doença de Gaucher: diagnósticos de enfermagem prioritários.
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- Revista Brasileira de Enfermagem, 2018, v. 71, n. 1, p. 113, doi. 10.1590/0034-7167-2016-0434
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- Publication type:
- Article
Signs and symptoms in Gaucher Disease: priority nursing diagnoses.
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- Revista Brasileira de Enfermagem, 2018, v. 71, n. 1, p. 104, doi. 10.1590/0034-7167-2016-0434
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- Publication type:
- Article
PATIENTS WITH GAUCHER DISEASE: RESULTS OF LONG FOLLOW UP.
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- Erciyes Medical Journal / Erciyes Tip Dergisi, 2018, v. 40, n. 1, p. S23
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- Publication type:
- Article
Gaucher disease in Iraqi children (Clinical, diagnostic & therapeutic aspects).
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- Pakistan Journal of Medical Sciences, 2016, v. 32, n. 2, p. 319, doi. 10.12669/pjms.322.9316
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- Publication type:
- Article
Vitamin D Receptor (VDR) Polymorphisms in the Cardiac Variant of Gaucher Disease.
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- Pediatric Cardiology, 2010, v. 31, n. 1, p. 30, doi. 10.1007/s00246-009-9538-7
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- Publication type:
- Article
Gaucher disease: Recent advances in the diagnosis and management.
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- Medical Journal of Viral Hepatitis, 2022, v. 6, n. 2, p. 6
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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
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.
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- Journal of Human Genetics, 2014, v. 59, n. 5, p. 276, doi. 10.1038/jhg.2014.16
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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.
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- 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
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.
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- 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.
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- 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.
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- 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
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
Incidence of 4 Lysosomal Storage Disorders From 4 Years of Newborn Screening.
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- JAMA Pediatrics, 2018, v. 172, n. 7, p. 696, doi. 10.1001/jamapediatrics.2018.0263
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- Publication type:
- Article
Bronchoalveolar lavage fluid in an infant with perinatal lethal Gaucher disease.
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- Pediatrics International, 2017, v. 59, n. 5, p. 636, doi. 10.1111/ped.13247
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- Publication type:
- Article
Prenatal diagnosis of Gaucher disease using next-generation sequencing.
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- Pediatrics International, 2016, v. 58, n. 9, p. 946, doi. 10.1111/ped.13069
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- Publication type:
- Article
Surgery for gastroesophageal reflux disease with Gaucher disease type 2.
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- Pediatrics International, 2016, v. 58, n. 7, p. 610, doi. 10.1111/ped.12851
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- Publication type:
- Article
Identification of a Biomarker in Cerebrospinal Fluid for Neuronopathic Forms of Gaucher Disease.
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- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0120194
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- Publication type:
- Article
Management of Type 3 Gaucher Disease.
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- Current Medical Literature: Lysosomal Storage Disease, 2012, v. 10, n. 4, p. 93
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- Publication type:
- Article
Screening and Diagnosis.
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- Current Medical Literature: Lysosomal Storage Disease, 2012, v. 10, n. 2, p. 50
- Publication type:
- Article
Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologistsoncologists and an opportunity for early diagnosis and intervention.
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- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 31
- Publication type:
- Article
Overall assessment of patients with type 1 Gaucher disease: a single-centre's experience.
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- 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
Gaucher disease.
- Published in:
- JAMA: Journal of the American Medical Association, 1996, v. 275, n. 7, p. 548
- Publication type:
- Article
α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.
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- Molecular Neurodegeneration, 2018, v. 12, p. 1, doi. 10.1186/s13024-017-0233-5
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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
Diagnosing Gaucher disease.
- Published in:
- Clinical Pediatrics, 1995, v. 34, n. 7, p. 365, doi. 10.1177/000992289503400705
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- Publication type:
- Article
Evaluation of the Relationship Between Jaw Involvement and Systemic Involvement in Type 1 Gaucher Disease.
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- Turkish Journal of Endocrinology & Metabolism, 2021, v. 25, n. 3, p. 261, doi. 10.25179/tjem.2021-82213
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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
Patients’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers.
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- Journal of Genetic Counseling, 2018, v. 27, n. 3, p. 675, doi. 10.1007/s10897-017-0161-0
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- Publication type:
- Article
Challenges in the Diagnosis of Gaucher Disease with Multiple Splenic Lesions.
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- 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
From Bone Marrow Necrosis to Gaucher Disease; A Long Way to Run.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Gaucher Disease and Gaucher Cells.
- Published in:
- 2015
- By:
- 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
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
Pediatric Gaucher Disease Type 3 Presenting with Oculomotor Apraxia: A Case Report.
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- 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.
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- Children, 2023, v. 10, n. 5, p. 869, doi. 10.3390/children10050869
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- Publication type:
- Article
Progression of retinal changes in Gaucher disease: a case report.
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- Eye, 2013, v. 27, n. 11, p. 1331, doi. 10.1038/eye.2013.180
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- Publication type:
- Article
An Unexpected Finding of Hepatosplenomegaly in a Pediatric Patient.
- Published in:
- Clinical Pediatrics, 2022, v. 61, n. 1, p. 81, doi. 10.1177/00099228211059668
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- Publication type:
- Article