PubRank

Adriana M Montaño

Author PubWeight™ 21.46‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Enzyme replacement therapy in a murine model of Morquio A syndrome. Hum Mol Genet 2007 1.32
2 Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Hum Mutat 2005 1.27
3 Newborn screening and diagnosis of mucopolysaccharidoses. Mol Genet Metab 2013 1.13
4 Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome. Mol Ther 2010 1.10
5 Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry. J Inherit Metab Dis 2010 1.09
6 Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels. Mol Genet Metab 2013 1.02
7 Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). Hum Mutat 2009 1.00
8 Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII. J Inherit Metab Dis 2012 0.99
9 Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins. Mol Genet Metab 2007 0.98
10 Sacral dimple: incidental findings from newborn evaluation. Mucopolysaccharidosis IVA disease. Acta Paediatr 2009 0.97
11 Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase. Mol Genet Metab 2007 0.97
12 Comparison of liquid chromatography-tandem mass spectrometry and sandwich ELISA for determination of keratan sulfate in plasma and urine. Biomark Insights 2011 0.96
13 Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry. Mol Genet Metab 2009 0.95
14 Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase. Hum Mol Genet 2005 0.95
15 Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I. J Inherit Metab Dis 2010 0.93
16 Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model. Mol Genet Metab 2012 0.91
17 Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1. FEBS J 2010 0.88
18 Morquio A syndrome: diagnosis and current and future therapies. Pediatr Endocrinol Rev 2014 0.85
19 Identification of a novel chondroitin hydrolase in Caenorhabditis elegans. J Biol Chem 2008 0.85
20 Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene. Mol Genet Metab 2006 0.84
21 Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB. JIMD Rep 2015 0.80