Published in Neurology on August 28, 2007
Mucopolysaccharidosis VI. Orphanet J Rare Dis (2010) 1.87
Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses. Fluids Barriers CNS (2017) 1.39
Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP). J Inherit Metab Dis (2011) 1.04
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy. J Inherit Metab Dis (2011) 1.03
Magnetic resonance spectroscopy of the occipital cortex and the cerebellar vermis distinguishes individual cats affected with alpha-mannosidosis from normal cats. NMR Biomed (2010) 1.00
Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. J Inherit Metab Dis (2008) 0.98
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment. Mol Genet Metab (2015) 0.87
Inborn errors of metabolism for the diagnostic radiologist. Pediatr Radiol (2008) 0.87
Imaging findings of mucopolysaccharidoses: a pictorial review. Insights Imaging (2013) 0.86
Anesthetic management in children with Hurler's syndrome undergoing emergency ventriculoperitoneal shunt surgery. Saudi J Anaesth (2012) 0.83
High-resolution magnetic resonance microscopy and diffusion tensor imaging to assess brain structural abnormalities in the murine mucopolysaccharidosis VII model. J Neuropathol Exp Neurol (2014) 0.83
Corrective GUSB transfer to the canine mucopolysaccharidosis VII brain. Mol Ther (2013) 0.82
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution. J Inherit Metab Dis (2010) 0.81
Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome). J Inherit Metab Dis (2010) 0.78
Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI. J Inherit Metab Dis (2012) 0.77
Association of somatic burden of disease with age and neuropsychological measures in attenuated mucopolysaccharidosis types I, II and VI. Mol Genet Metab Rep (2016) 0.77
Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome. J Inherit Metab Dis (2015) 0.75
A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus. JIMD Rep (2013) 0.75
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet (2009) 4.02
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
Multidisciplinary management of Hunter syndrome. Pediatrics (2009) 1.76
Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey. J Med Genet (2009) 1.61
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice. Hum Mol Genet (2000) 1.44
Renal-coloboma syndrome in a Brazilian family. Arch Ophthalmol (2001) 1.39
Studies on sandfly fauna (Diptera: Psychodidae) in a foci of cutaneous leishmaniasis in mesquita, Rio de Janeiro State, Brazil. Mem Inst Oswaldo Cruz (1990) 1.27
Genetics of homocysteine metabolism and associated disorders. Braz J Med Biol Res (2009) 1.20
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clin Genet (2004) 1.18
Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis (2005) 1.10
Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. Gene (2013) 1.08
Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II. AJNR Am J Neuroradiol (2007) 1.05
Services for the prevention and management of genetic disorders and birth defects in developing countries. Community Genet (1999) 1.03
Pregnancy outcome after exposure to misoprostol in Brazil: a prospective, controlled study. Reprod Toxicol (1999) 1.03
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients. J Inherit Metab Dis (2005) 1.01
Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n. Arch Neurol (2001) 1.00
Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism. Eur J Pediatr (1997) 0.99
DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards. Am J Med Genet (1993) 0.98
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. J Inherit Metab Dis (2012) 0.95
Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis. J Med Genet (1990) 0.95
Expert recommendations for the laboratory diagnosis of MPS VI. Mol Genet Metab (2012) 0.94
Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis (2005) 0.94
Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophy. Biochim Biophys Acta (2004) 0.92
CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy. J Inherit Metab Dis (2004) 0.91
[Phlebotomus of Vargem Grande, a focus of cutaneous leishmaniasis in the State of Rio de Janeiro]. Mem Inst Oswaldo Cruz (1987) 0.90
Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants. J Inherit Metab Dis (1995) 0.89
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations. Braz J Med Biol Res (2004) 0.88
Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model. J Inherit Metab Dis (2005) 0.87
Nager's acrofacial dysostosis with thumb duplication: report of a case. Clin Genet (1984) 0.86
Oxidative stress in patients with phenylketonuria. Biochim Biophys Acta (2005) 0.85
Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype. Acta Neurol Scand (2003) 0.85
A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. J Neurol (2001) 0.85
Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia. Eur J Pediatr (1996) 0.85
Evidence that L-carnitine and selenium supplementation reduces oxidative stress in phenylketonuric patients. Cell Mol Neurobiol (2010) 0.85
A Brazilian galactosialidosis patient given renal transplantation: a case report. J Inherit Metab Dis (2008) 0.84
Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease. J Inherit Metab Dis (2006) 0.84
Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis. Hum Mutat (1999) 0.84
The aortic valve with two leaflets--a study in 2,000 autopsies. Cardiol Young (1999) 0.83
Mutation analysis of phenylketonuria in south Brazil. Hum Mutat (1996) 0.83
Unique frequency of known mutations in Brazilian MPS I patients. Am J Med Genet (2000) 0.83
Clinical and molecular features in patients with advanced non-small-cell lung carcinoma refractory to first-line platinum-based chemotherapy. Lung Cancer (2012) 0.83
[Organic aciduria: diagnosis in high-risk Brazilian patients] J Pediatr (Rio J) (2003) 0.83
Detection of metabolic disorders in high-risk patients. A pilot study in Salvador, Bahia. Arq Neuropsiquiatr (1997) 0.82
Pyridoxine-dependent seizures associated with white matter abnormalities. Neuropediatrics (1994) 0.82
High frequency of type 1 GM1 gangliosidosis in southern Brazil. Clin Genet (1999) 0.82
What is the variability between 2 consecutive cystometries in the same child? J Urol (2003) 0.82
[Application of a clinical and laboratory protocol for the investigation of inborn errors of metabolism among critically ill children] J Pediatr (Rio J) (2003) 0.82
Variation between geographical populations of Lutzomyia (Nyssomyia) whitmani (Antunes & Coutinho, 1939) sensu lato (Diptera:Psychodidae:Phlebotominae) in Brazil. Mem Inst Oswaldo Cruz (1996) 0.82
Clinical and biochemical studies in mucopolysaccharidosis type II carriers. J Inherit Metab Dis (2009) 0.81
Characterization of beta-galactosidase in leukocytes and fibroblasts of GM1 gangliosidosis heterozygotes compared to normal subjects. Clin Biochem (2000) 0.81
Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil. Hum Biol (1999) 0.81
Galactosaemia in a Brazilian population: high incidence and cost-benefit analysis. J Inherit Metab Dis (2009) 0.81
Effects of imilglucerase withdrawal on an adult with Gaucher disease. Br J Haematol (2001) 0.81
3-Hydroxyglutaric acid moderately impairs energy metabolism in brain of young rats. Neuroscience (2005) 0.80
Protracted course of Krabbe disease in an adult patient bearing a novel mutation. Arch Neurol (1999) 0.80
Delivering genetic education and genetic counseling for rare diseases in rural Brazil. J Genet Couns (2013) 0.80
[Cloverleaf skull syndrome]. Z Kinderheilkd (1971) 0.80
Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds. Acta Neurol Scand (2001) 0.79
Epstein-Barr virus-induced transformation of B cells for the diagnosis of genetic metabolic disorders--enumerative conditions for cryopreservation. Cell Prolif (2006) 0.79
Effect of collection, transport, processing and storage of blood specimens on the activity of lysosomal enzymes in plasma and leukocytes. Braz J Med Biol Res (2000) 0.79
GM1 gangliosidosis: clinical and laboratory findings in eight families. Hum Genet (1985) 0.79
Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil. J Child Neurol (2006) 0.79
Molecular analysis of the Pi*Z allele in patients with liver disease. Am J Med Genet (2001) 0.79
Study on possible increase in twinning rate at a small village in south Brazil. Acta Genet Med Gemellol (Roma) (1996) 0.79
Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family. Clin Genet (2003) 0.79
Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings. Clin Genet (2006) 0.79
[Comments on the article <<Neonatal cholestasis revealing an intermediate phenotype of Gaucher disease, type 2>>]. Arch Pediatr (2009) 0.79
In vitro activities of new and conventional antimycotics against fluconazole-susceptible and non-susceptible Brazilian Candida spp. isolates. Mycoses (2006) 0.79
Glycogen storage disease type Ia: molecular study in Brazilian patients. J Hum Genet (2001) 0.78
Prevalence of aeroallergen sensitization and increased exhaled nitric oxide values in schoolchildren of different socioeconomic status. J Investig Allergol Clin Immunol (2010) 0.78
Severity score system for progressive myelopathy: development and validation of a new clinical scale. Braz J Med Biol Res (2012) 0.78
Effect of dimethylsulfoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts. Braz J Med Biol Res (1999) 0.78
Infantile sialic acid storage disease: report of the first case in South America. Clin Genet (1999) 0.78
Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution. Hum Biol (1997) 0.78
Congenital malformations detected in 731 autopsies of children aged 0 to 14 years. Teratology (1987) 0.77
Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG). Am J Med Genet (1999) 0.77
Does geographical location influence the phenotype of Fabry disease in women in Europe? Clin Genet (2010) 0.77
Biochemical studies on leukocyte and fibroblast human beta-galactosidase. Clin Biochem (1999) 0.77
Genomic analysis of Brazilian patients with Fabry disease. Braz J Med Biol Res (2007) 0.77
The use of LR values to check the best fit of cut-off values in G6PD deficient cases. Clin Biochem (2007) 0.77
Glycosidase active site mutations in human alpha-L-iduronidase. Glycobiology (2001) 0.77
Regional distribution of cystic fibrosis-linked DNA haplotypes in Brazil: multicenter study. Hum Biol (1997) 0.77
Clinical and laboratorial study of 19 cases of mucopolysaccharidoses. Rev Hosp Clin Fac Med Sao Paulo (2001) 0.76
Genetic polymorphism of morphological and biochemical characters in a Natal, Brazil, population of Lutzomyia longipalpis (Diptera: Psychodidae). J Am Mosq Control Assoc (1998) 0.76
Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke. J Inherit Metab Dis (2006) 0.76
Cytotoxic effect of amphotericin B in a myofibroblast cell line. Toxicol In Vitro (2013) 0.76
Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women. Braz J Med Biol Res (2012) 0.76
Thalamic and basal ganglia hyperdensities--a CT marker for globoid cell leukodystrophy? Neuropediatrics (1992) 0.76
High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. Genet Mol Res (2012) 0.76
Reliable detection of mucopolysacchariduria in dried-urine filter paper samples. Clin Chim Acta (2012) 0.76
Clinical and biochemical effects of long-term vitamin A administration to a patient with Hurler-Scheie compound. Braz J Med Biol Res (1984) 0.76
Investigation of oxidative stress parameters in treated phenylketonuric patients. Metab Brain Dis (2006) 0.76
Assay of heparan-N-sulfamidase in dried leukocytes impregnated in filter paper: a new tool for the identification of mucopolisaccharidosis IIIA and potentially other lysosomal disorders. Mol Genet Metab (2013) 0.76