Published in Curr Med Res Opin on June 01, 2006
Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease. Br J Haematol (2007) 1.74
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders. Orphanet J Rare Dis (2015) 1.43
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. J Inherit Metab Dis (2008) 1.41
Review of the safety and efficacy of imiglucerase treatment of Gaucher disease. Biologics (2009) 1.14
An overview on bone manifestations in Gaucher disease. Wien Med Wochenschr (2010) 1.02
Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Skeletal Radiol (2008) 0.93
Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat. Skeletal Radiol (2014) 0.90
Inborn errors of metabolism for the diagnostic radiologist. Pediatr Radiol (2008) 0.87
Newborn screening for neuropathic lysosomal storage disorders. J Inherit Metab Dis (2010) 0.85
Apparent diffusion coefficient of the vertebral bone marrow in children with Gaucher's disease type I and III. Skeletal Radiol (2012) 0.82
Bone turnover markers in patients with type 1 Gaucher disease. Hematol Rep (2012) 0.78
Radiological aspects of Gaucher disease. Skeletal Radiol (2010) 0.77
Evaluation of an imaging biomarker, Dixon quantitative chemical shift imaging, in Gaucher disease: lessons learned. J Inherit Metab Dis (2014) 0.76
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int J Mol Sci (2017) 0.75
Long-term response in biochemical markers of bone turnover during enzyme replacement therapy in a case-series of patients with Gaucher disease type I from Northern Greece. Hippokratia (2017) 0.75
Organic alternatives to quantum dots for intraoperative near-infrared fluorescent sentinel lymph node mapping. Mol Imaging (2005) 3.19
Platelet-rich plasma injections in acute muscle injury. N Engl J Med (2014) 2.92
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med (2015) 2.77
Comparison of CT and MRI for diagnosis of suspected scaphoid fractures. J Bone Joint Surg Am (2011) 2.11
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet (2004) 2.04
Is the lung scan alive and well? Facts and controversies in defining the role of lung scintigraphy for the diagnosis of pulmonary embolism in the era of MDCT. Eur J Nucl Med Mol Imaging (2009) 2.04
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. Nat Genet (2010) 2.00
Sequential FDG-PET/CT reliably predicts response of locally advanced rectal cancer to neo-adjuvant chemo-radiation therapy. Eur J Nucl Med Mol Imaging (2007) 1.81
Peripheral joint inflammation in early onset spondyloarthritis is not specifically related to enthesitis. Ann Rheum Dis (2013) 1.74
Scintigraphic techniques in primary hyperparathyroidism: from pre-operative localisation to intra-operative imaging. Eur J Nucl Med Mol Imaging (2007) 1.58
Implementation of simulation in surgical practice: minimally invasive surgery has taken the lead: the Dutch experience. Med Teach (2011) 1.48
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet (2009) 1.47
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online. Hum Mutat (2007) 1.47
Radioguided surgery of parathyroid adenomas and recurrent thyroid cancer using the "low sestamibi dose" protocol. Cancer Biother Radiopharm (2006) 1.46
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet (2004) 1.45
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood (2011) 1.45
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood (2003) 1.44
Role of 99mTc-sestamibi SPECT in accurate selection of primary hyperparathyroid patients for minimally invasive radio-guided surgery. Eur J Nucl Med Mol Imaging (2006) 1.43
Procedure guideline for brain death scintigraphy. J Nucl Med (2003) 1.41
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements. Eur J Hum Genet (2008) 1.34
SNM practice guideline for brain death scintigraphy 2.0. J Nucl Med Technol (2012) 1.28
Agenesis of the corpus callosum: clinical and genetic study in 63 young patients. Pediatr Neurol (2006) 1.27
Clinical and molecular genetic features of ARC syndrome. Hum Genet (2006) 1.26
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet (2012) 1.23
Inflammation and infection: imaging properties of 18F-FDG-labeled white blood cells versus 18F-FDG. J Nucl Med (2005) 1.22
Measuring hindfoot alignment radiographically: the long axial view is more reliable than the hindfoot alignment view. Skeletal Radiol (2010) 1.19
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A (2015) 1.17
Substrate reduction therapy of glycosphingolipid storage disorders. J Inherit Metab Dis (2006) 1.16
A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease. Haematologica (2008) 1.16
Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease. Acta Paediatr Suppl (2008) 1.15
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Hum Mutat (2010) 1.14
Radio-guided thoracoscopic surgery (RGTS) of small pulmonary nodules. Surg Endosc (2011) 1.10
Prevalence of rib anomalies in normal Caucasian children and childhood cancer patients. Eur J Med Genet (2005) 1.09
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. Hum Mutat (2011) 1.07
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat (2009) 1.07
Increased plasma macrophage inflammatory protein (MIP)-1alpha and MIP-1beta levels in type 1 Gaucher disease. Biochim Biophys Acta (2007) 1.04
Elevated plantar pressures in neuropathic diabetic patients with claw/hammer toe deformity. J Biomech (2005) 1.03
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy. J Inherit Metab Dis (2011) 1.03
Arthroscopic treatment of osteochondral defects of the talus: outcomes at eight to twenty years of follow-up. J Bone Joint Surg Am (2013) 1.02
Clinical benefit of bone-targeted radiometabolic therapy with 153Sm-EDTMP combined with chemotherapy in patients with metastatic hormone-refractory prostate cancer. Eur J Nucl Med Mol Imaging (2007) 1.01
Semiquantitative assessment of skeletal response to enzyme replacement therapy for Gaucher's disease using the bone marrow burden score. AJR Am J Roentgenol (2007) 1.01
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. J Bone Miner Res (2006) 1.01
CCR5 blockade in rheumatoid arthritis: a randomised, double-blind, placebo-controlled clinical trial. Ann Rheum Dis (2010) 1.01
Long-term prognostic value of 18F-FDG PET in patients with locally advanced rectal cancer previously treated with neoadjuvant radiochemotherapy. AJR Am J Roentgenol (2006) 1.00
Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings. AJNR Am J Neuroradiol (2003) 1.00
Reproducibility of diffusion tensor imaging in human forearm muscles at 3.0 T in a clinical setting. Magn Reson Med (2010) 0.99
Mother-to-infant transmission of hepatitis C virus: rate of infection and assessment of viral load and IgM anti-HCV as risk factors. J Med Virol (2002) 0.99
Stress fractures in the lower extremity. The importance of increasing awareness amongst radiologists. Eur J Radiol (2007) 0.98
Hunting for the pathogenesis of rheumatoid arthritis: core-needle biopsy of inguinal lymph nodes as a new research tool. Ann Rheum Dis (2012) 0.98
4D rotational x-ray imaging of wrist joint dynamic motion. Med Phys (2005) 0.98
Added value of 99mTc-HMPAO-labeled leukocyte SPECT/CT in the characterization and management of patients with infectious endocarditis. J Nucl Med (2012) 0.98
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients. Eur J Hum Genet (2012) 0.98
Rheumatoid synovial inflammation: pixel-by-pixel dynamic contrast-enhanced MR imaging time-intensity curve shape analysis--a feasibility study. Radiology (2009) 0.98
Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr (2012) 0.98
Clinical and genetic characterization of Chanarin-Dorfman syndrome. Biochem Biophys Res Commun (2008) 0.97
Bifid ribs and unusual vertebral anomalies diagnosed in an anatomical specimen. Gorlin syndrome? Am J Med Genet A (2006) 0.97
Diffusion-tensor MRI reveals the complex muscle architecture of the human forearm. J Magn Reson Imaging (2012) 0.97
Contribution of radioiodine uptake measurement and thyroid scintigraphy to the differential diagnosis of thyrotoxicosis. Hell J Nucl Med (2010) 0.96
Progressive surgical release of a posttraumatic stiff elbow. Technique and outcome after 2-18 years in 46 patients. Acta Orthop Scand (2002) 0.96
Recombinant human thyroid-stimulating hormone is effective for radioiodine ablation of post-surgical thyroid remnants. Nucl Med Commun (2006) 0.96
In-vivo range of motion of the subtalar joint using computed tomography. J Biomech (2008) 0.96
Receptor radionuclide therapy of tumors: a road from basic research to clinical applications. J Nucl Med (2006) 0.95
Suspected atlantoaxial rotatory fixation-subluxation: the value of multidetector computed tomography scanning under general anesthesia. Spine (Phila Pa 1976) (2007) 0.95
Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene. Mol Genet Metab (2009) 0.95
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inherit Metab Dis (2010) 0.95
Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma. J Clin Endocrinol Metab (2007) 0.95
Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease. Mol Genet Metab (2004) 0.95
Radiotoxicity of iodine-125 and other auger-electron-emitting radionuclides: background to therapy. Cancer Biother Radiopharm (2003) 0.94
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am J Hum Genet (2012) 0.94
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review. Am J Med Genet A (2005) 0.94
Amsterdam wrist rules: a clinical decision aid. BMC Musculoskelet Disord (2011) 0.94
The long-term fate of the hip arthrodesis: does it remain a valid procedure for selected cases in the 21st century? Int Orthop (2009) 0.92
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations. Neurogenetics (2009) 0.92
Plantar fat-pad displacement in neuropathic diabetic patients with toe deformity: a magnetic resonance imaging study. Diabetes Care (2004) 0.92
Clinical Features of Lysosomal Acid Lipase Deficiency. J Pediatr Gastroenterol Nutr (2015) 0.92
Pixel-by-pixel analysis of DCE MRI curve patterns and an illustration of its application to the imaging of the musculoskeletal system. Magn Reson Imaging (2006) 0.92
Role of intrinsic muscle atrophy in the etiology of claw toe deformity in diabetic neuropathy may not be as straightforward as widely believed. Diabetes Care (2009) 0.91
Mini-open sinus tarsi approach with percutaneous screw fixation of displaced calcaneal fractures: a prospective computed tomography-based study. Foot Ankle Int (2012) 0.91
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme. Mol Genet Metab (2009) 0.91
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. Hum Mutat (2007) 0.91
Contrast-enhanced MRI compared with the physical examination in the evaluation of disease activity in juvenile idiopathic arthritis. Eur Radiol (2013) 0.90
Radioiodine treatment with 30 mCi after recombinant human thyrotropin stimulation in thyroid cancer: effectiveness for postsurgical remnants ablation and possible role of iodine content in L-thyroxine in the outcome of ablation. J Clin Endocrinol Metab (2003) 0.90
The anterior ankle impingement syndrome: diagnostic value of oblique radiographs. Foot Ankle Int (2004) 0.90
Cerebral perfusional effects of cholinesterase inhibitors in Alzheimer disease. Clin Neuropharmacol (2004) 0.90
Brain perfusion follow-up in Alzheimer's patients during treatment with acetylcholinesterase inhibitors. J Nucl Med (2002) 0.90
Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patients. JIMD Rep (2012) 0.90
The diagnostic accuracy of unenhanced MRI in the assessment of joint abnormalities in juvenile idiopathic arthritis. Eur Radiol (2013) 0.90
Time course of Paclitaxel-induced apoptosis in an experimental model of virus-induced breast cancer. J Nucl Med (2010) 0.89
Recombinant human TSH and ablation of post-surgical thyroid remnants in differentiated thyroid cancer: the effect of pre-treatment with furosemide and furosemide plus lithium. Eur J Nucl Med Mol Imaging (2009) 0.89
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. J Neurol (2013) 0.89
Effects of long-term Donepezil therapy on rCBF of Alzheimer's patients. Clin Neurophysiol (2002) 0.89
Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes. Am J Med Genet A (2007) 0.89
Intraoperative radioguided sentinel lymph node biopsy in non-small cell lung cancer. Eur J Cardiothorac Surg (2003) 0.89
The role of radiology in nerve function impairment and its musculoskeletal complications in leprosy. Lepr Rev (2009) 0.89
Minimally invasive radioguided parathyroidectomy: an attractive therapeutic option for elderly patients with primary hyperparathyroidism. Nucl Med Commun (2004) 0.89
Characteristics of synovial inflammation in early arthritis analysed by pixel-by-pixel time-intensity curve shape analysis. Rheumatology (Oxford) (2012) 0.88