Published in J Inherit Metab Dis on August 04, 2010
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The risk of Parkinson's disease in type 1 Gaucher disease. J Inherit Metab Dis (2010) 1.65
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Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet (2013) 1.22
Gastrointestinal disturbances and their management in miglustat-treated patients. J Inherit Metab Dis (2011) 1.14
Therapeutic goals in the treatment of Fabry disease. Genet Med (2010) 1.12
Reducing selection bias in case-control studies from rare disease registries. Orphanet J Rare Dis (2011) 1.09
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The radiation exposure associated with cervical and lumbar spine radiographs. J Spinal Disord Tech (2008) 1.04
Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP). J Inherit Metab Dis (2011) 1.04
Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J (2009) 1.02
Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease. J Pediatr (2010) 1.02
Gaucher disease gene GBA functions in immune regulation. Proc Natl Acad Sci U S A (2012) 1.02
Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med (2005) 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
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol (2013) 0.97
Anderson-Fabry disease: extrarenal, neurologic manifestations. J Am Soc Nephrol (2002) 0.96
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
Bilhemia after trans-jugular intra-hepatic porto-systemic shunt and its management with biliary decompression. World J Gastroenterol (2009) 0.94
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. Hum Mutat (2005) 0.92
Design principles for developing an efficient clinical anatomy course. Med Teach (2006) 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
Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat. Skeletal Radiol (2014) 0.90
Colonoscopic full-thickness resection of the colon in a porcine model as a prelude to endoscopic surgery of difficult colon polyps: a novel technique (with videos). Gastrointest Endosc (2009) 0.89
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
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? Eur J Hum Genet (2008) 0.87
Correlation of MRI-Based bone marrow burden score with genotype and spleen status in Gaucher's disease. AJR Am J Roentgenol (2008) 0.87
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. Orphanet J Rare Dis (2012) 0.86
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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
Dosing enzyme replacement therapy for Gaucher disease: older, but are we wiser? Genet Med (2009) 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
Cystatin C and NT-proBNP as prognostic biomarkers in Fabry disease. Mol Genet Metab (2011) 0.85
Gaucher disease: resetting the clinical and scientific agenda. Am J Hematol (2009) 0.84
The pathophysiology of GD - current understanding and rationale for existing and emerging therapeutic approaches. Wien Med Wochenschr (2010) 0.84
Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients. Muscle Nerve (2008) 0.84
Symptomatic hip plica: MR arthrographic and arthroscopic correlation. Skeletal Radiol (2010) 0.83
Hyperferritinemia and iron overload in type 1 Gaucher disease. Am J Hematol (2010) 0.83
Utility of flexion-extension radiographs in evaluating the degenerative cervical spine. Spine (Phila Pa 1976) (2007) 0.83
Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns (2002) 0.82
Risk factors associated with biliary pancreatitis in children. J Pediatr Gastroenterol Nutr (2012) 0.82
Position statement: National Gaucher Foundation Medical Advisory Board, January 7, 2014. Am J Hematol (2014) 0.82
Microvillus inclusion disease associated with coarctation of the aorta and bicuspid aortic valve. J Clin Gastroenterol (2008) 0.82
Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease. Adv Exp Med Biol (2006) 0.82
Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice. Biochem Biophys Res Commun (2012) 0.81
Prevalence of type 1 Gaucher disease in the United States. Arch Intern Med (2008) 0.81
MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis. AJNR Am J Neuroradiol (2005) 0.81
A systematic review of new advances in the management of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): focus on galsulfase. Biologics (2009) 0.80
Haematological manifestations and complications of Gaucher disease. Curr Opin Hematol (2013) 0.79
Parkinson's disease in patients and obligate carriers of Gaucher disease. Parkinsonism Relat Disord (2012) 0.79
Calcium ameliorates diarrhea in immunocompromised children. J Pediatr Gastroenterol Nutr (2013) 0.78
Fidelity of gamma-glutamyl transferase (GGT) in differentiating skeletal muscle from liver damage. J Child Neurol (2008) 0.78
Giant trichobezoar and gastric perforation in a normal healthy woman. J Gastrointest Surg (2008) 0.78
Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease. J Med Genet (2012) 0.77
Early access experience with VPRIV(®): recommendations for 'core data' collection. Blood Cells Mol Dis (2010) 0.77
Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient. Metab Brain Dis (2009) 0.77
Therapeutic approaches for lysosomal storage diseases. Ther Adv Endocrinol Metab (2010) 0.76
Re: Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study. J Inherit Metab Dis (2009) 0.75
Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase. Mol Genet Metab (2012) 0.75
Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity. J Inherit Metab Dis (2011) 0.75
CNS pathology and vascular/circulatory abnormalities in Fabry disease. Acta Paediatr Suppl (2006) 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
Editorial overview: lysosomal storage disorders with primary neurological involvement. J Inherit Metab Dis (2010) 0.75
Lysosomal Disease Network's "WORLD Symposium 2009". Introduction. Mol Genet Metab (2008) 0.75
Leukoencephalopathies and leukodystrophies. Continuum (Minneap Minn) (2010) 0.75
Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease. J Child Neurol (2009) 0.75
Synovium, synergy and serendipity. J Inherit Metab Dis (2011) 0.75
A rare but radiographically recognizable cause of an irreducible hip fracture-dislocation. Clin Imaging (2012) 0.75