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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.
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- Children, 2023, v. 10, n. 5, p. 869, doi. 10.3390/children10050869
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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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- 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.
- Published in:
- 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.
- Published in:
- Pediatrics International, 2016, v. 58, n. 7, p. 610, doi. 10.1111/ped.12851
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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.
- 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
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
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
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
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- Publication type:
- Case Study
Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature.
- Published in:
- 2010
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- Publication type:
- Case Study
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation.
- Published in:
- BMC Medical Genetics, 2005, v. 6, p. 25, doi. 10.1186/1471-2350-6-25
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- Publication type:
- Article
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
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
Osteopontin: a potential biomarker of Gaucher disease.
- Published in:
- Annals of Hematology, 2015, v. 94, n. 7, p. 1119, doi. 10.1007/s00277-015-2354-7
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- Publication type:
- Article
Molecular probes: Getting lucky in the lysosome.
- Published in:
- Nature Chemical Biology, 2010, v. 6, n. 12, p. 881, doi. 10.1038/nchembio.470
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- Publication type:
- Article
Pulmonary involvement in Gaucher disease.
- Published in:
- 2017
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- 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
Patients’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers.
- Published in:
- 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
Quantifying the Erlenmeyer flask deformity.
- Published in:
- British Journal of Radiology, 2012, v. 85, n. 1015, p. 905, doi. 10.1259/bjr/33890893
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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
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
Premature Identical Twin Neonates With Sleep Apnea.
- Published in:
- 2017
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- Publication type:
- Case Study
Carrier Screening for Gaucher Disease.
- Published in:
- 2007
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- Publication type:
- Editorial
Identification of a Biomarker in Cerebrospinal Fluid for Neuronopathic Forms of Gaucher Disease.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0120194
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- Publication type:
- Article
Perinatal-lethal Gaucher disease presenting as hydrops fetalis.
- Published in:
- 2015
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- Publication type:
- Case Study
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 in Iraqi children (Clinical, diagnostic & therapeutic aspects).
- Published in:
- 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
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
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
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.
- Published in:
- Molecular Neurodegeneration, 2018, v. 12, p. 1, doi. 10.1186/s13024-017-0233-5
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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
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
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
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
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
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
Management of Type 3 Gaucher Disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2012, v. 10, n. 4, p. 93
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- Publication type:
- Article
Screening and Diagnosis.
- Published in:
- 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.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 31
- 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
Sinais e sintomas na Doença de Gaucher: diagnósticos de enfermagem prioritários.
- Published in:
- 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