Published in Radiology on November 22, 2005
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J Inherit Metab Dis (2007) 1.94
The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases. FASEB J (2008) 1.73
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics (2008) 1.23
Genetic interstitial lung disease. Clin Chest Med (2011) 0.89
Acid sphingomyelinase in macrophage biology. Cell Mol Life Sci (2011) 0.84
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. Mol Genet Metab (2015) 0.83
Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review. Lung (2016) 0.77
Contrast-enhanced ultrasonography in nodular splenomegaly associated with type B Niemann-Pick disease: an atypical hemangioma enhancement pattern. J Ultrasound (2009) 0.77
Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD). Orphanet J Rare Dis (2017) 0.75
Pulmonary alveolar proteinosis and Niemann Pick disease type B: An unexpected combination. Respir Med Case Rep (2016) 0.75
The aurora sign in a patient with type B Niemann-Pick disease. Pediatr Radiol (2006) 0.75
A pharmacogenetic versus a clinical algorithm for warfarin dosing. N Engl J Med (2013) 7.09
Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA (2006) 4.51
Incidence and outcomes in acute kidney injury: a comprehensive population-based study. J Am Soc Nephrol (2007) 4.17
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
High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet (2006) 3.78
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med (2006) 3.38
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med (2004) 3.32
The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med (2003) 3.28
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Lancet (2013) 3.21
Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med (2005) 2.95
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int (2003) 2.94
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet (2002) 2.94
Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol (2009) 2.88
Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry. Lancet (2013) 2.82
Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab (2009) 2.78
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med (2015) 2.77
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol (2007) 2.73
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics (2008) 2.61
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet (2004) 2.60
The World Trade Center disaster and the health of workers: five-year assessment of a unique medical screening program. Environ Health Perspect (2006) 2.52
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics (2009) 2.44
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. Cancer Lett (2006) 2.37
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mutat (2010) 2.29
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab (2006) 2.27
Persistence of multiple illnesses in World Trade Center rescue and recovery workers: a cohort study. Lancet (2011) 2.24
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant (2009) 2.17
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int (2002) 2.15
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
Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations. Am J Hum Genet (2008) 1.99
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med (2011) 1.89
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry. Circulation (2007) 1.86
Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups. Pharmacogenomics (2010) 1.82
Initial report from the Hunter Outcome Survey. Genet Med (2008) 1.80
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat (2009) 1.78
Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis (2013) 1.78
Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's disease. Mov Disord (2014) 1.76
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet (2002) 1.74
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis (2011) 1.70
Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. Genet Med (2003) 1.62
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol (2013) 1.60
Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand... Autophagy (2007) 1.60
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
Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias. Arch Neurol (2004) 1.58
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab (2013) 1.57
AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice. Mol Ther (2004) 1.55
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol Dis (2009) 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
Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report. J Mol Diagn (2009) 1.54
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. PLoS Genet (2012) 1.52
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength. J Pediatr (Rio J) (2008) 1.52
Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population. Genet Med (2004) 1.52
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet (2005) 1.51
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
Correction of the biochemical and functional deficits in fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A. Mol Ther (2006) 1.46
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol Genet Metab (2003) 1.44
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
Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele. Hum Mutat (2003) 1.42
Spirometry screening for airway obstruction in asymptomatic smokers. Aust Fam Physician (2014) 1.41
Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings. J Mol Diagn (2008) 1.40
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med (2003) 1.38
CYP2C9*8 is prevalent among African-Americans: implications for pharmacogenetic dosing. Pharmacogenomics (2009) 1.37
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics (2006) 1.35
The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years. Heart Fail Clin (2010) 1.34
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Mol Ther (2007) 1.34
The porphyrias: advances in diagnosis and treatment. Blood (2012) 1.34
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators. Orphanet J Rare Dis (2013) 1.33
Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone. J Cell Mol Med (2008) 1.33
Generalized arterial calcification of infancy: two siblings with prolonged survival. Eur J Pediatr (2005) 1.32
Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am J Hum Genet (2002) 1.32
Randomized trial of a decision aid for BRCA1/BRCA2 mutation carriers: impact on measures of decision making and satisfaction. Health Psychol (2009) 1.30
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediatr (2006) 1.30
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
Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry. Am Heart J (2008) 1.29
Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type. Mol Genet Metab (2013) 1.28
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus. Eur J Pediatr (2011) 1.27
Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization. Genet Med (2010) 1.27
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet (2003) 1.27
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet (2012) 1.26
High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. Mol Genet Metab (2009) 1.26
Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr (2012) 1.26
The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics (2004) 1.25
Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes. Arch Intern Med (2010) 1.25
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics (2008) 1.23