Correlation of MRI-Based bone marrow burden score with genotype and spleen status in Gaucher's disease.

PubWeight™: 0.87‹?›

🔗 View Article (PMC 3731993)

Published in AJR Am J Roentgenol on July 01, 2008

Authors

Robert F DeMayo1, Andrew H Haims, Matthew C McRae, Ruhua Yang, Pramod K Mistry

Author Affiliations

1: Department of Radiology, Yale University School of Medicine, 333 Cedar St., PO Box 208042, New Haven, CT 06520-8042, USA.

Articles cited by this

Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med (1991) 6.09

Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med (1998) 2.80

Skeletal aspects of Gaucher disease: a review. Br J Radiol (2002) 1.39

Recent clinical progress in Gaucher disease. Curr Opin Pediatr (2005) 1.33

Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics (1995) 1.29

Quantification of skeletal involvement in adults with type I Gaucher's disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter. AJR Am J Roentgenol (2002) 1.23

Skeletal complications of Gaucher disease. Medicine (Baltimore) (1985) 1.16

Gaucher disease: assessment of skeletal involvement and therapeutic responses to enzyme replacement. Skeletal Radiol (1997) 1.07

Expression of mutated glucocerebrosidase alleles in human cells. Hum Mol Genet (1997) 1.06

Imaging and quantifying skeletal involvement in Gaucher disease. Br J Radiol (2002) 1.05

Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging--initial experience. Radiology (2003) 1.03

Bone marrow response in treated patients with Gaucher disease: evaluation by T1-weighted magnetic resonance images and correlation with reduction in liver and spleen volume. Skeletal Radiol (2000) 0.97

Response of Gaucher bone disease to enzyme replacement therapy. Br J Radiol (2002) 0.96

Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations. Eur J Hum Genet (2002) 0.90

Phenotype variations in Gaucher disease. Rev Med Interne (2006) 0.88

Quantitative chemical shift imaging of vertebral bone marrow in patients with Gaucher disease. Radiology (1992) 0.87

Dixon quantitative chemical shift MRI for bone marrow evaluation in the lumbar spine: a reproducibility study in healthy volunteers. J Comput Assist Tomogr (2001) 0.81

Gaucher disease. New approaches to an ancient disease. J Bone Joint Surg Am (2001) 0.79

Articles by these authors

Diagnostic CT scans: assessment of patient, physician, and radiologist awareness of radiation dose and possible risks. Radiology (2004) 3.65

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Hematol (2009) 2.79

Therapeutic goals in the treatment of Gaucher disease. Semin Hematol (2004) 2.29

Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. Am J Hematol (2007) 2.04

The risk of Parkinson's disease in type 1 Gaucher disease. J Inherit Metab Dis (2010) 1.65

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood (2011) 1.45

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med (2009) 1.34

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet (2013) 1.22

Reducing selection bias in case-control studies from rare disease registries. Orphanet J Rare Dis (2011) 1.09

MRI characteristics and classification of peripheral vascular malformations and tumors. Skeletal Radiol (2008) 1.08

Design, implementation, and evaluation of an innovative anatomy course. Anat Sci Educ (2010) 1.06

Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy. J Inherit Metab Dis (2010) 1.04

Diagnostic CT scans: institutional informed consent guidelines and practices at academic medical centers. AJR Am J Roentgenol (2006) 1.04

Gaucher disease gene GBA functions in immune regulation. Proc Natl Acad Sci U S A (2012) 1.02

Protease activation during in vivo pancreatitis is dependent on calcineurin activation. Am J Physiol Gastrointest Liver Physiol (2009) 0.99

High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease. J Inherit Metab Dis (2010) 0.97

Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy. J Inherit Metab Dis (2011) 0.96

Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: a study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. J Bone Miner Res (2012) 0.95

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease. Proc Natl Acad Sci U S A (2014) 0.94

Evaluation of an emergency radiology quality assurance program at a level I trauma center: abdominal and pelvic CT studies. Radiology (2002) 0.92

Morphometric comparison of the pedicle rib unit to pedicles in the thoracic spine. Spine (Phila Pa 1976) (2004) 0.92

Hibernoma: a case report demonstrating usefulness of MR angiography in characterizing the tumor. Skeletal Radiol (2007) 0.91

Imaging of anterior cruciate ligament repair and its complications. AJR Am J Roentgenol (2010) 0.90

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation. Am J Hematol (2012) 0.90

Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma. N Engl J Med (2016) 0.89

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. Am J Hematol (2010) 0.87

Imaging-guided bone biopsy for osteomyelitis: are there factors associated with positive or negative cultures? AJR Am J Roentgenol (2007) 0.86

An extrapedicular approach to the placement of screws in the thoracic spine: an anatomic and radiographic assessment. Spine (Phila Pa 1976) (2003) 0.86

Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Blood (2012) 0.86

MRI comparison of periprosthetic structures around zirconium knee prostheses and cobalt chrome prostheses. AJR Am J Roentgenol (2006) 0.86

Lipoma arborescens of the peroneal tendon sheath. J Magn Reson Imaging (2011) 0.85

Misdiagnosis of Niemann-Pick disease type C as Gaucher disease. J Inherit Metab Dis (2010) 0.85

Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr Endocrinol Rev (2014) 0.85

Gaucher disease: resetting the clinical and scientific agenda. Am J Hematol (2009) 0.84

Comparison of 3D vs. 2D fast spin echo imaging for evaluation of articular cartilage in the knee on a 3T system scientific research. Eur J Radiol (2011) 0.83

Hyperferritinemia and iron overload in type 1 Gaucher disease. Am J Hematol (2010) 0.83

Comparison of spin echo T1-weighted sequences versus fast spin-echo proton density-weighted sequences for evaluation of meniscal tears at 1.5 T. Skeletal Radiol (2008) 0.83

Position statement: National Gaucher Foundation Medical Advisory Board, January 7, 2014. Am J Hematol (2014) 0.82

3D-FSE Isotropic MRI of the Lumbar Spine: Novel Application of an Existing Technology. J Spinal Disord Tech (2015) 0.82

Risk factors associated with biliary pancreatitis in children. J Pediatr Gastroenterol Nutr (2012) 0.82

Microvillus inclusion disease associated with coarctation of the aorta and bicuspid aortic valve. J Clin Gastroenterol (2008) 0.82

Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice. Biochem Biophys Res Commun (2012) 0.81

MR arthrography of anterior cruciate ligament reconstruction grafts. AJR Am J Roentgenol (2003) 0.81

Prevalence of type 1 Gaucher disease in the United States. Arch Intern Med (2008) 0.81

Imaging of sports-related hip and groin injuries. Sports Health (2010) 0.80

Range of normal and abnormal subacromial/subdeltoid bursa fluid. J Comput Assist Tomogr (2006) 0.78

Calcium ameliorates diarrhea in immunocompromised children. J Pediatr Gastroenterol Nutr (2013) 0.78

The utility of dynamic flexion-extension radiographs in the initial evaluation of the degenerative lumbar spine. Spine (Phila Pa 1976) (2007) 0.78

Fractures of the calcaneus: a review with emphasis on CT. Radiographics (2005) 0.77

Three-Dimensional Isotropic MRI of the Cervical Spine: A Diagnostic Comparison With Conventional MRI. Clin Spine Surg (2016) 0.77

Complete cervical intervertebral disc extrusion with spinal cord injury in the absence of facet dislocation: a case report. Spine (Phila Pa 1976) (2004) 0.75

Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity. J Inherit Metab Dis (2011) 0.75

Rare disease clinical research network's urea cycle consortium delivers a successful clinical trial to improve alternate pathway therapy. Hepatology (2013) 0.75

Management of the difficult sentinel lymph node in patients with primary cutaneous melanoma. Ann Plast Surg (2009) 0.75

Acetabular fractures: anatomic and clinical considerations. AJR Am J Roentgenol (2013) 0.75