Published in J Inherit Metab Dis on July 09, 2011
Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP) | NCT00214773
International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A (2014) 1.19
Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis (2012) 1.16
Lysosomal storage diseases--the horizon expands. Nat Rev Neurol (2013) 1.15
Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI. J Inherit Metab Dis (2012) 0.93
Endothelial function in children and adolescents with mucopolysaccharidosis. J Inherit Metab Dis (2012) 0.93
Current and emerging management options for patients with Morquio A syndrome. Ther Clin Risk Manag (2013) 0.87
Carotid intima-media thickness is increased in patients with mucopolysaccharidoses. Mol Genet Metab (2011) 0.86
Murine hyaluronidase 2 deficiency results in extracellular hyaluronan accumulation and severe cardiopulmonary dysfunction. J Biol Chem (2012) 0.85
Neonatal gene therapy with a gamma retroviral vector in mucopolysaccharidosis VI cats. Mol Ther (2012) 0.85
Management of difficult airway with laryngeal mask in a child with mucopolysaccharidosis and mitral regurgitation: a case report. Res Cardiovasc Med (2014) 0.83
Long-term functional outcomes of children with hurler syndrome treated with unrelated umbilical cord blood transplantation. JIMD Rep (2015) 0.82
Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients. Mol Genet Metab Rep (2015) 0.82
The Murine Model of Mucopolysaccharidosis IIIB Develops Cardiopathies over Time Leading to Heart Failure. PLoS One (2015) 0.82
Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. J Inherit Metab Dis (2013) 0.81
Mucopolysaccharidosis Type II and the G374sp Mutation. Mol Syndromol (2013) 0.81
Management of mucopolysaccharidosis type IH (Hurler's syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution's experience. J Inherit Metab Dis (2012) 0.81
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. Genet Mol Biol (2014) 0.80
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
Similar therapeutic efficacy between a single administration of gene therapy and multiple administrations of recombinant enzyme in a mouse model of lysosomal storage disease. Hum Gene Ther (2014) 0.78
Fatal and unanticipated cardiorespiratory disease in a two-year-old child with hurler syndrome following successful stem cell transplant. JIMD Rep (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
Pathogenesis of mitral valve disease in mucopolysaccharidosis VII dogs. Mol Genet Metab (2013) 0.77
Low-dose Gene Therapy Reduces the Frequency of Enzyme Replacement Therapy in a Mouse Model of Lysosomal Storage Disease. Mol Ther (2016) 0.75
Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome). PLoS One (2016) 0.75
The factors affecting lipid profile in adult patients with Mucopolysaccharidosis. Mol Genet Metab Rep (2017) 0.75
Pregnancy in patients with mucopolysaccharidosis: a case series. Mol Genet Metab Rep (2016) 0.75
Aortic Root Dilatation in Mucopolysaccharidosis I-VII. Int J Mol Sci (2016) 0.75
Cardiac manifestations in mucopolysaccharoidosis. Indian Heart J (2016) 0.75
Hyaluronidase 2 Deficiency Causes Increased Mesenchymal Cells, Congenital Heart Defects, and Heart Failure. Circ Cardiovasc Genet (2017) 0.75
Cardiovascular Abnormalities in Egyptian Children with Mucopolysaccharidoses. J Clin Diagn Res (2016) 0.75
Laronidase replacement therapy and left ventricular function in mucopolysaccharidosis I. JIMD Rep (2014) 0.75
Long-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome. Mol Genet Metab Rep (2017) 0.75
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS). Orphanet J Rare Dis (2017) 0.75
Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe. Eur J Health Econ (2016) 0.75
The pathology of gargoylism; report of a case and review of the literature. Am J Pathol (1948) 4.35
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med (2006) 4.04
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr (2004) 3.86
Activated interstitial myofibroblasts express catabolic enzymes and mediate matrix remodeling in myxomatous heart valves. Circulation (2001) 3.47
Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH). Bone Marrow Transplant (2002) 3.24
Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics (2009) 2.79
The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I. Mol Genet Metab (2007) 2.23
Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). Pediatrics (2007) 2.22
Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet (1981) 2.22
International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis (2007) 2.21
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab (2008) 2.04
The genetic mucopolysaccharidoses. Medicine (Baltimore) (1965) 2.04
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr (2004) 1.94
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis (2009) 1.89
Mucopolysaccharidosis VI. Orphanet J Rare Dis (2010) 1.87
Initial report from the Hunter Outcome Survey. Genet Med (2008) 1.80
Multidisciplinary management of Hunter syndrome. Pediatrics (2009) 1.76
Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. Am J Pathol (2000) 1.66
Valvular heart disease: diagnosis and management. Mayo Clin Proc (2010) 1.65
The cardiovascular system in gargoylism. Br Heart J (1950) 1.64
Management guidelines for mucopolysaccharidosis VI. Pediatrics (2007) 1.61
Liver-directed neonatal gene therapy prevents cardiac, bone, ear, and eye disease in mucopolysaccharidosis I mice. Mol Ther (2005) 1.58
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet A (2005) 1.58
The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child (1995) 1.56
Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders--clinical and echocardiographic findings in 64 patients. Eur J Pediatr (1998) 1.54
Bioengineering challenges for heart valve tissue engineering. Annu Rev Biomed Eng (2009) 1.54
Anaesthesia and mucopolysaccharidoses. A review of airway problems in children. Anaesthesia (1994) 1.52
Glycosaminoglycan profiles of myxomatous mitral leaflets and chordae parallel the severity of mechanical alterations. J Am Coll Cardiol (2003) 1.51
Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs. Proc Natl Acad Sci U S A (2002) 1.50
A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr Suppl (2007) 1.49
The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses. Cardiol Young (2009) 1.46
Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice. Mol Genet Metab (2008) 1.45
Early atherosclerosis in humans: role of diffuse intimal thickening and extracellular matrix proteoglycans. Cardiovasc Res (2008) 1.44
Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation. N Engl J Med (1984) 1.43
Correction of clinical manifestations of canine mucopolysaccharidosis I with neonatal retroviral vector gene therapy. Mol Ther (2007) 1.42
Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I. Am J Cardiol (2006) 1.41
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study. Clin Genet (2009) 1.39
Echocardiographic abnormalities in the mucopolysaccharide storage diseases. Am J Cardiol (1988) 1.39
Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up. Pediatrics (2009) 1.39
Localization and pattern of expression of extracellular matrix components in human heart valves. J Heart Valve Dis (2005) 1.36
Risk factor analysis of outcomes after unrelated cord blood transplantation in patients with hurler syndrome. Biol Blood Marrow Transplant (2009) 1.32
Cardiac manifestations in the mouse model of mucopolysaccharidosis I. Mol Genet Metab (2005) 1.31
Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). Mol Genet Metab (2010) 1.30
Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum Mutat (2007) 1.30
Arteriopathy and coarctation of the abdominal aorta in children with mucopolysaccharidosis: imaging findings. AJR Am J Roentgenol (1991) 1.29
Transplant outcomes in mucopolysaccharidoses. Semin Hematol (2010) 1.25
Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression. Mol Genet Metab (2009) 1.25
Coronary artery disease in the Hurler syndrome. Qualitative and quantitative analysis of the extent of coronary narrowing at necropsy in six children. Am J Cardiol (1981) 1.23
Gargoylism with cardiovascular involvement in two brothers. Br Heart J (1954) 1.20
Gene therapy ameliorates cardiovascular disease in dogs with mucopolysaccharidosis VII. Circulation (2004) 1.20
Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years. J Pediatr (2009) 1.19
Newborn screening of lysosomal storage disorders. Clin Chem (2010) 1.19
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clin Genet (2004) 1.18
Hematopoietic cell therapy for metabolic disease. J Pediatr (2007) 1.17
Usefulness of bone marrow transplantation in the Hurler syndrome. Am J Cardiol (2003) 1.17
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. Mol Genet Metab (2003) 1.17
Abundance and location of proteoglycans and hyaluronan within normal and myxomatous mitral valves. Cardiovasc Pathol (2008) 1.15
The heart in the Hurler syndrome: gross, histologic and ultrastructural observations in five necropsy cases. Am J Cardiol (1976) 1.15
Guidelines for the management of mucopolysaccharidosis type I. J Pediatr (2009) 1.15
Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses. Eur J Pediatr (1995) 1.14
Classification of the mucopolysaccharidoses based on the pattern of mucopolysacchariduria. Am J Med (1969) 1.14
Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry. J Pediatr (2009) 1.13
Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med (1996) 1.11
Echocardiographic study of paediatric patients with mucopolysaccharidosis. Cardiol Young (2010) 1.10
Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. Hum Mutat (2004) 1.09
Radiological case of the month. Coarctation of the aorta in Hurler syndrome. Arch Pediatr Adolesc Med (2000) 1.09
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. J Inherit Metab Dis (2010) 1.08
Trends in haematopoietic cell transplantation for inborn errors of metabolism. J Inherit Metab Dis (2006) 1.06
Cord blood and bone marrow transplantation in inherited metabolic diseases: scientific basis, current status and future directions. Br J Haematol (2009) 1.05
Mobility in Hurler syndrome. J Pediatr Orthop (2008) 1.04
Mucopolysaccharidosis I under enzyme replacement therapy with laronidase--a mortality case with autopsy report. J Inherit Metab Dis (2005) 1.03
Mucopolysaccharidosis VI: the Italian experience. Eur J Pediatr (2009) 1.03
Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation. Bone Marrow Transplant (1998) 1.02
Heritable disorders of connective tissue. VII. The Hurler syndrome. J Chronic Dis (1956) 1.01
Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr (2002) 1.01
Valvular heart disease in four patients with Maroteaux-Lamy syndrome. Circulation (1992) 1.00
Outcome in six children with mucopolysaccharidosis type IH, Hurler syndrome, after haematopoietic stem cell transplantation (HSCT). Acta Paediatr (2008) 0.99
Perioperative implications of Morquio syndrome in a 31-year-old woman undergoing aortic valve replacement. J Cardiothorac Vasc Anesth (2009) 0.98
Hypertrophic cardiomyopathy in mucopolysaccharidoses: regression after bone marrow transplantation. Pediatr Cardiol (1992) 0.98
The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness. Heart Vessels (2008) 0.98
CARDIOVASCULAR MANIFESTATIONS OF THE HURLER SYNDROME: HEMODYNAMIC AND ANGIOCARDIOGRAPHIC OBSERVATIONS IN 15 PATIENTS. Circulation (1965) 0.97
The nosology of the mucopolysaccharidoses. Am J Med (1969) 0.97
An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum. Mol Genet Metab (2005) 0.96
Cardiac structural involvement in mucopolysaccharidoses. Cardiology (2002) 0.95
Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up. J Inherit Metab Dis (1999) 0.94
Cardiac involvement in mucopolysaccharidoses: effects of allogeneic bone marrow transplantation. Arch Dis Child (1995) 0.93
Coronary artery patency following long-term successful engraftment 14 years after bone marrow transplantation in the Hurler syndrome. Am J Cardiol (2001) 0.93
Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I. J Inherit Metab Dis (2007) 0.92
Postmortem studies on a patient with mucopolysaccharidosis type I: histopathological findings after one year of enzyme replacement therapy. J Inherit Metab Dis (2009) 0.90
Aortic valve replacement in a patient with morquio syndrome. Heart Surg Forum (2008) 0.90
Combined aortic and mitral valve replacement in an adult with Scheie's disease. Chest (1989) 0.89
Sudden death in Hunter syndrome caused by complete atrioventricular block. J Pediatr (2000) 0.89
Aortic stenosis and mucopolysaccharidosis. Ann Intern Med (1980) 0.89
Successful treatment of severe heart failure in an infant with Hurler syndrome. J Inherit Metab Dis (2007) 0.87
Morquio's syndrome: severe aortic regurgitation and late pulmonary autograft failure. J Heart Valve Dis (2006) 0.86
Permanent transfemoral pacemaker implantation in a child with Maroteaux Lamy syndrome. Pacing Clin Electrophysiol (2002) 0.85
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med (2006) 4.04
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr (2007) 3.40
The American Journal of Cardiology and Journal of Periodontology Editors' Consensus: periodontitis and atherosclerotic cardiovascular disease. Am J Cardiol (2009) 2.91
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med (2015) 2.77
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics (2008) 2.61
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. Cancer Lett (2006) 2.37
The American Journal of Cardiology and Journal of Periodontology editors' consensus: periodontitis and atherosclerotic cardiovascular disease. J Periodontol (2009) 2.20
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab (2008) 2.04
Thrombotic occlusion of the aortic ostia of saphenous venous grafts early after coronary artery bypass grafting by using the Symmetry aortic connector system. J Thorac Cardiovasc Surg (2002) 2.04
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med (2011) 1.89
Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J (2007) 1.87
Initial report from the Hunter Outcome Survey. Genet Med (2008) 1.80
Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA (2009) 1.75
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis (2011) 1.67
Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literature. Genet Med (2010) 1.65
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. J Inherit Metab Dis (2014) 1.60
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet A (2005) 1.58
Increased prevalence of iron-overload associated endocrinopathy in thalassaemia versus sickle-cell disease. Br J Haematol (2006) 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
AJC editor's consensus: psoriasis and coronary artery disease. Am J Cardiol (2008) 1.54
Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase beta. Mol Genet Metab (2008) 1.52
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength. J Pediatr (Rio J) (2008) 1.52
Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases. Clin Chim Acta (2006) 1.51
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics (2006) 1.50
A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr Suppl (2007) 1.49
Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice. Mol Genet Metab (2008) 1.45
The editor's roundtable: psoriasis, inflammation, and coronary artery disease. Am J Cardiol (2008) 1.45
Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil. Cancer Lett (2008) 1.44
Etiologic considerations in the patient with syncope and an apparently normal heart. Arch Intern Med (2003) 1.43
The editor's roundtable: atherosclerosis regression. Am J Cardiol (2008) 1.42
Correction of clinical manifestations of canine mucopolysaccharidosis I with neonatal retroviral vector gene therapy. Mol Ther (2007) 1.42
Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. J Inherit Metab Dis (2013) 1.39
The editor's roundtable: JUPITER follow-up. Am J Cardiol (2011) 1.39
The editor's roundtable: pathophysiology and management of hyponatremia and the role of vasopressin antagonists. Am J Cardiol (2011) 1.38
Diagnosis of congenital unicuspid aortic valve by 64-slice cardiac computed tomography. Proc (Bayl Univ Med Cent) (2008) 1.38
ICD Implantation in infants and small children: the extracardiac technique. Pacing Clin Electrophysiol (2006) 1.36
Preoperative exclusion of significant coronary artery disease by 64-slice CT coronary angiography in a patient with a left atrial myxoma. Proc (Bayl Univ Med Cent) (2006) 1.34
Immunologic privilege in the central nervous system and the blood-brain barrier. J Cereb Blood Flow Metab (2012) 1.30
Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum Mutat (2007) 1.30
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus. Eur J Pediatr (2011) 1.27
Pathogenesis of aortic dilatation in mucopolysaccharidosis VII mice may involve complement activation. Mol Genet Metab (2011) 1.27
Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr (2012) 1.26
Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression. Mol Genet Metab (2009) 1.25
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics (2008) 1.23
Improvements in mucopolysaccharidosis I mice after adult retroviral vector-mediated gene therapy with immunomodulation. Mol Ther (2007) 1.21
Newborn screening for congenital infectious diseases. Emerg Infect Dis (2004) 1.21
Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics (2006) 1.20
Hemophilia gene therapy: a Holy Grail found. Mol Ther (2011) 1.20
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr (2012) 1.20
International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A (2014) 1.19
Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey. Genet Med (2011) 1.18
Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I. Mol Genet Metab (2010) 1.17
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. Mol Genet Metab (2003) 1.17
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Pediatr Res (2004) 1.16
Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis (2012) 1.16
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies. Orphanet J Rare Dis (2012) 1.15
Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy. Mol Genet Metab (2008) 1.15
Lysosomal storage diseases and the blood-brain barrier. Curr Pharm Des (2008) 1.15
Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis (2013) 1.14
Genomic rearrangements in BRCA1 and BRCA2: A literature review. Genet Mol Biol (2009) 1.14
Absence of a desmopressin response after therapeutic expression of factor VIII in hemophilia A dogs with liver-directed neonatal gene therapy. Proc Natl Acad Sci U S A (2005) 1.13
Pathophysiology of neuropathic lysosomal storage disorders. J Inherit Metab Dis (2010) 1.13
Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples. Clin Chim Acta (2011) 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
Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care. BMC Cancer (2009) 1.12
Therapeutic goals in the treatment of Fabry disease. Genet Med (2010) 1.12
Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med (2010) 1.11
Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis (2012) 1.11
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. Am J Hum Genet (2004) 1.09
Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil. Genet Mol Biol (2009) 1.08
S100B protein and amniotic fluid. Clin Chim Acta (2003) 1.08
Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. Brain (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
IgA nephropathy in two adolescent sisters heterozygous for Fabry disease. Pediatr Nephrol (2006) 1.06
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Inherit Metab Dis (2010) 1.06
Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression. Am J Med Genet A (2008) 1.05
A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease. Genet Med (2009) 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
Effect of neonatal administration of a retroviral vector expressing alpha-L-iduronidase upon lysosomal storage in brain and other organs in mucopolysaccharidosis I mice. Mol Genet Metab (2006) 1.03
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy. J Inherit Metab Dis (2011) 1.03
Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease. J Pediatr (2010) 1.02
Mechanism of shortened bones in mucopolysaccharidosis VII. Mol Genet Metab (2009) 1.02
Evaluation of glucose-6-phosphate dehydrogenase stability in blood samples under different collection and storage conditions. Clin Chem (2005) 1.02
Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. Radiology (2005) 1.00
Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome. Hered Cancer Clin Pract (2011) 1.00
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. Genet Med (2010) 0.99
Improved retroviral vector design results in sustained expression after adult gene therapy in mucopolysaccharidosis I mice. J Gene Med (2008) 0.99
Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy. Biochim Biophys Acta (2011) 0.98
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series. J Inherit Metab Dis (2012) 0.98
Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered. Mol Genet Metab (2011) 0.98