Published in Nucleic Acid Ther on February 01, 2014
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Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proc Natl Acad Sci U S A (2004) 1.28
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations. Hum Mutat (2004) 1.19
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Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC). Hum Mutat (2009) 1.08
Two new single-nucleotide polymorphisms in the COL1A1 upstream regulatory region and their relationship to bone mineral density. J Bone Miner Res (2002) 1.07
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A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease. Hum Mutat (2012) 1.02
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Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. Hum Mutat (2009) 0.95
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. J Inherit Metab Dis (2011) 0.95
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Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. Mol Genet Metab (2007) 0.89
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Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. J Lipid Res (2007) 0.88
A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2. J Biol Chem (2012) 0.87
Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease. Blood Cells Mol Dis (2009) 0.87
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele. Hum Mutat (2008) 0.87
A new SNP in a negative regulatory region of the CYP19A1 gene is associated with lumbar spine BMD in postmenopausal women. Bone (2005) 0.87
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In vitro functional assay of alleles and haplotypes of two COL1A1-promoter SNPs. Bone (2005) 0.86
A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study. Clin Biochem (2007) 0.86
Promoter 2 -1025 T/C polymorphism in the RUNX2 gene is associated with femoral neck bmd in Spanish postmenopausal women. Calcif Tissue Int (2007) 0.85
Simvastatin and atorvastatin enhance gene expression of collagen type 1 and osteocalcin in primary human osteoblasts and MG-63 cultures. J Cell Biochem (2007) 0.85
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A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity. Hum Genet (2005) 0.85
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. Hum Mutat (2011) 0.85
Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula. Orphanet J Rare Dis (2012) 0.85
Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients. Mol Genet Metab (2012) 0.85
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Functional relevance of the BMD-associated polymorphism rs312009: novel involvement of RUNX2 in LRP5 transcriptional regulation. J Bone Miner Res (2011) 0.84
Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women. J Clin Endocrinol Metab (2006) 0.83
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. J Hum Genet (2006) 0.83
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A haplotype-based analysis of the LRP5 gene in relation to osteoporosis phenotypes in Spanish postmenopausal women. J Bone Miner Res (2008) 0.83
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RNAi-mediated inhibition of the glucosylceramide synthase (GCS) gene: A preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage diseases. Blood Cells Mol Dis (2006) 0.83
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Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia. Mol Genet Metab (2010) 0.82
Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes. Hum Genet (2004) 0.82
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Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. Hum Mutat (2006) 0.82
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COL1A1 haplotypes and hip fracture. J Bone Miner Res (2012) 0.81
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High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia. Hum Mutat (2006) 0.78
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The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. J Inherit Metab Dis (2010) 0.77
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BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor. Clin Chim Acta (2007) 0.77
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease. J Inherit Metab Dis (2010) 0.77
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The Missense p.S231F phenylalanine hydroxylase gene mutation causes complete loss of enzymatic activity in vitro. Protein J (2009) 0.77
Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element. Gene (2013) 0.77
A folate-rich diet is as effective as folic acid from supplements in decreasing plasma homocysteine concentrations. Int J Med Sci (2005) 0.77
Perinatal lethal form of Gaucher disease. Clinical and molecular characterization of a Greek case. Blood Cells Mol Dis (2009) 0.76
Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event. Mol Genet Metab (2010) 0.76
Description of extreme longevity in the Balearic Islands: Exploring a potential Blue Zone in Menorca, Spain. Geriatr Gerontol Int (2013) 0.76
A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case report. J Bone Joint Surg Am (2012) 0.76
Bone mass of a 113-year-old man. J Gerontol A Biol Sci Med Sci (2007) 0.75
Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease. Blood Cells Mol Dis (2003) 0.75
Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. J Pediatr Endocrinol Metab (2015) 0.75
Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity. Org Biomol Chem (2017) 0.75
Correction: Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity. Org Biomol Chem (2017) 0.75