Published in Cardiol Young on February 06, 2009
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Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis (2012) 1.16
Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP). J Inherit Metab Dis (2011) 1.04
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Mucopolysaccharidosis Type II and the G374sp Mutation. Mol Syndromol (2013) 0.81
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Glycosaminoglycan metabolism defects and atherosclerosis: frequent association of endothelial dysfunction in patients with Mucopolysaccharidosis. J Inherit Metab Dis (2013) 0.79
The effect of neonatal gene therapy with a gamma retroviral vector on cardiac valve disease in mucopolysaccharidosis VII dogs after a decade. Mol Genet Metab (2013) 0.78
Massive accumulation of glycosaminoglycans in the aortic valve of a patient with Hunter syndrome during enzyme replacement therapy. Pediatr Cardiol (2013) 0.77
Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report. Mol Genet Metab Rep (2014) 0.75
The factors affecting lipid profile in adult patients with Mucopolysaccharidosis. Mol Genet Metab Rep (2017) 0.75
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature. Clin Rheumatol (2013) 0.75
Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome. JIMD Rep (2016) 0.75
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Early and late complications associated with transcatheter occlusion of secundum atrial septal defect. J Am Coll Cardiol (2002) 5.41
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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet (2006) 3.17
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Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol (2008) 1.97
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Sox18 and Sox7 play redundant roles in vascular development. Blood (2007) 1.60
Morbidity and mortality risk factors in adults with congenital heart disease undergoing cardiac reoperations. Ann Thorac Surg (2009) 1.57
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab (2013) 1.57
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am J Hum Genet (2012) 1.54
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis (2011) 1.54
The Cardiac Center of Shisong Hospital: the first cardio-surgical center in West and Central Africa is inaugurated in Cameroon. Pan Afr Med J (2010) 1.50
Coma and respiratory failure in a child with severe vitamin B(12) deficiency. Pediatr Crit Care Med (2005) 1.42
Autologous purified peripheral blood stem cell transplantation compare to chemotherapy in childhood acute lymphoblastic leukemia after low-risk relapse. Pediatr Blood Cancer (2011) 1.39
[The involvement of non-governmental organizations in health systems in developing countries: example of Shisong Cardiac Centre]. Pan Afr Med J (2009) 1.36
Results and mid-long-term follow-up of stent implantation for native and recurrent coarctation of the aorta. Eur Heart J (2005) 1.36
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr (2003) 1.32
Transcatheter closure of congenital ventricular septal defect with Amplatzer septal occluders. Am J Cardiol (2005) 1.28
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Hum Mutat (2005) 1.20
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet (2013) 1.18
Platelet-lysate-expanded mesenchymal stromal cells as a salvage therapy for severe resistant graft-versus-host disease in a pediatric population. Biol Blood Marrow Transplant (2010) 1.17
Rationale and design of a trial evaluating the effects of losartan vs. nebivolol vs. the association of both on the progression of aortic root dilation in Marfan syndrome with FBN1 gene mutations. J Cardiovasc Med (Hagerstown) (2009) 1.16
Occurrence, aetiology and challenges in the management of congestive heart failure in sub-Saharan Africa: experience of the Cardiac Centre in Shisong, Cameroon. Pan Afr Med J (2011) 1.15
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. J Neurol (2012) 1.15
African experiences of humanitarian cardiovascular medicine: the Cardiac Centre of St. Elizabeth Catholic General Hospital, Shisong. Cardiovasc Diagn Ther (2012) 1.15
Interleukin-17-producing T-helper cells as new potential player mediating graft-versus-host disease in patients undergoing allogeneic stem-cell transplantation. Transplantation (2009) 1.14
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. Eur J Pediatr (2005) 1.13
The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS). Mol Genet Metab (2013) 1.12
Therapeutic goals in the treatment of Fabry disease. Genet Med (2010) 1.12
Minimal residual disease before and after transplantation for childhood acute lymphoblastic leukaemia: is there any room for intervention? Br J Haematol (2014) 1.10
Transcatheter closure of congenital and acquired muscular ventricular septal defects using the Amplatzer device. J Invasive Cardiol (2002) 1.10
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet (2013) 1.09
Risk for secondary thyroid carcinoma after hematopoietic stem-cell transplantation: an EBMT Late Effects Working Party Study. J Clin Oncol (2007) 1.07
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
Encephalopathy syndrome in children with hemato-oncological disorders is not always posterior and reversible. Pediatr Blood Cancer (2008) 1.05
Mucopolysaccharidosis VI: the Italian experience. Eur J Pediatr (2009) 1.03
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy. J Inherit Metab Dis (2011) 1.03
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Hum Mutat (2005) 1.01
The effectiveness of octreotide in the treatment of post-operative chylothorax. Eur J Pediatr (2002) 1.01
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. Genet Med (2010) 0.99
Risk factors and severe outcome in thrombotic microangiopathy after allogeneic hematopoietic stem cell transplantation. Transplantation (2006) 0.99
Water apparent diffusion coefficient and T2 changes in the acute stage of maple syrup urine disease: evidence of intramyelinic and vasogenic-interstitial edema. J Neuroimaging (2003) 0.98
The Italian Multiple Sclerosis Database Network (MSDN): the risk of worsening according to IFNbeta exposure in multiple sclerosis. Mult Scler (2006) 0.97
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim Biophys Acta (2011) 0.97
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease. Eur J Hum Genet (2008) 0.96
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inherit Metab Dis (2010) 0.95
Extrathoracic heart in northern Cameroon: a case report. Pan Afr Med J (2009) 0.95
Predictors of long-term clinical response to interferon beta therapy in relapsing multiple sclerosis. J Neurol (2005) 0.95
J wave, QRS slurring, and ST elevation in athletes with cardiac arrest in the absence of heart disease: marker of risk or innocent bystander? Circ Arrhythm Electrophysiol (2010) 0.95
Congenital vascular rings: a clinical challenge for the pediatrician. Pediatr Pulmonol (2015) 0.94
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years. Orphanet J Rare Dis (2014) 0.93
Differential diagnosis between patent foramen ovale and pulmonary arteriovenous fistula in two patients with previous cryptogenic stroke caused by presumed paradoxical embolism. J Am Soc Echocardiogr (2002) 0.93
The first coronary by-pass grafting surgery done in western and central Africa. Pan Afr Med J (2011) 0.93
Right and left ventricular strain and strain rate in young adults before and after percutaneous atrial septal defect closure. Echocardiography (2011) 0.93
Analysis of early embryonic great-vessel microcirculation in zebrafish using high-speed confocal μPIV. Biorheology (2011) 0.92
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. Hum Mutat (2004) 0.92
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
Role of imaging in interventions on structural heart disease. Expert Rev Cardiovasc Ther (2013) 0.90
Subclinical myocardial dysfunction in Rett syndrome. Eur Heart J Cardiovasc Imaging (2011) 0.90
Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes. Am J Med Genet A (2007) 0.90
Role of heart rate variability in the early diagnosis of diabetic autonomic neuropathy in children. Herz (2002) 0.90
Interventricular septal hematoma in ventricular septal defect patch closure. Ann Thorac Surg (2005) 0.89
The impact of interventional cardiology for the management of adults with congenital heart defects. Catheter Cardiovasc Interv (2006) 0.89
Osteochondroma after hematopoietic stem cell transplantation in childhood. An Italian study on behalf of the AIEOP-HSCT group. Biol Blood Marrow Transplant (2009) 0.89
The relationship between inflammation and atrophy in clinically isolated syndromes suggestive of multiple sclerosis: a monthly MRI study after triple-dose gadolinium-DTPA. J Neurol (2004) 0.88
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. Hum Mutat (2009) 0.88
Transcatheter closure of postsurgical residual ventricular septal defects: early and mid-term results. Catheter Cardiovasc Interv (2010) 0.88
Insecticidal spider venom toxin fused to snowdrop lectin is toxic to the peach-potato aphid, Myzus persicae (Hemiptera: Aphididae) and the rice brown planthopper, Nilaparvata lugens (Hemiptera: Delphacidae). Pest Manag Sci (2006) 0.88
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. Hum Mutat (2010) 0.87
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment. Orphanet J Rare Dis (2014) 0.87
Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ). Health Qual Life Outcomes (2012) 0.86
Mesenchymal stromal cells do not increase the risk of viral reactivation nor the severity of viral events in recipients of allogeneic stem cell transplantation. Stem Cells Int (2012) 0.85
Predictors of quality of life among patients with multiple sclerosis: an Italian cross-sectional study. J Neurol Sci (2006) 0.84
Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage. JIMD Rep (2012) 0.84
Hurler disease bone marrow stromal cells exhibit altered ability to support osteoclast formation. Stem Cells Dev (2012) 0.83
Developing a paradigm of drug innovation: an evaluation algorithm. Drug Discov Today (2006) 0.83
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. Am J Med Genet A (2010) 0.83
The impact of treatment of the fetus by maternal therapy on the fetal and postnatal outcomes for fetuses diagnosed with isolated complete atrioventricular block. Cardiol Young (2009) 0.83
Alemtuzumab for giant cell hepatitis with autoimmune hemolytic anemia. J Pediatr Gastroenterol Nutr (2007) 0.83
Timing of pulmonary valve replacement after tetralogy of Fallot repair. Expert Rev Cardiovasc Ther (2012) 0.83
Emergency surgery for extrinsic coronary compression after percutaneous pulmonary valve implantation. Cardiol Young (2012) 0.82
Successful recovery of acute hemosiderotic heart failure in beta-thalassemia major treated with a combined regimen of desferrioxamine and deferiprone. Haematologica (2006) 0.82
A decision-theoretic framework for the application of cost-effectiveness analysis in regulatory processes. Pharmacoeconomics (2009) 0.82
Intracardiac echocardiography during percutaneous pulmonary valve replacement. Eur Heart J (2008) 0.82
Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III. JIMD Rep (2014) 0.81
Reconstitution of lymphocyte subpopulations in children with inherited metabolic storage diseases after haematopoietic cell transplantation. Br J Haematol (2005) 0.81
Combined liver-kidney transplantation in glycogen storage disease Ia: a case beyond the guidelines. Liver Transpl (2007) 0.81
Spectrum and outcome of atrioventricular septal defect in fetal life. Cardiol Young (2002) 0.81
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts. J Mol Med (Berl) (2006) 0.81