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Amparo Chabas

Amparo Chabas (Amparo Chabás),Universitat de Barcelona,Genetics & Genealogy,Molecular Biology,Diseases

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Amparo Chabas (Amparo Chabás)

Universitat de Barcelona

Publications: 69 | Citations: 442

Fields: Genetics & Genealogy, Molecular Biology, Diseases

Collaborated with 174 co-authors from 1991 to 2010 | Cited by 1413 authors

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Publications (69)

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Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles (Citations: 1)

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Journal: Clinical Genetics - CLIN GENET , pp. no-no, 2010

Evolución de dos pacientes con síndrome de Hurler en tratamiento con enzima recombinante humana � -L-iduronidasa

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Published in 2010.

Promising results of the chaperone effect caused by iminosugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease (Citations: 1)

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Journal: Blood Cells Molecules and Diseases - BLOOD CELLS MOLECULES DIS , vol. 42, no. 2, pp. 159-166, 2009

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population (Citations: 7)

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Journal: Clinical Genetics - CLIN GENET , vol. 44, no. 6, pp. 320-323, 2008

Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele (Citations: 3)

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Journal: Human Mutation - HUM MUTAT , vol. 29, no. 6, pp. E58-E67, 2008

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Citations (442 times by 325 publications)

Liver Production of Sulfamidase Reverses Peripheral and Ameliorates CNS Pathology in Mucopolysaccharidosis IIIA Mice

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Journal: Molecular Therapy - MOL THER , vol. 20, no. 2, pp. 254-266, 2012

Perinatal Lethal Gaucher Disease (Citations: 1)

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Journal: Indian Journal of Pediatrics - INDIAN J PEDIATR , vol. 78, no. 1, pp. 106-108, 2011

A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients (Citations: 1)

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Journal: Brain & Development - BRAIN DEVELOP , vol. 33, no. 2, pp. 131-139, 2011

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing

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Journal: PLOS One , vol. 6, no. 8, 2011

Characterization of the Biosynthesis, Processing and Kinetic Mechanism of Action of the Enzyme Deficient in Mucopolysaccharidosis IIIC

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Journal: PLOS One , vol. 6, no. 9, 2011

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Co-authors (174)

Journals (19)

Keywords (115)

Amparo Chabas (Amparo Chabás),Universitat de Barcelona,Genetics & Genealogy,Molecular Biology,Diseases

Publications (69)

BibTeX | RIS | RefWorks Download

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles (Citations: 1)

Evolución de dos pacientes con síndrome de Hurler en tratamiento con enzima recombinante humana � -L-iduronidasa

Promising results of the chaperone effect caused by iminosugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease (Citations: 1)

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population (Citations: 7)

Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele (Citations: 3)

Citations (442 times by 325 publications)

Liver Production of Sulfamidase Reverses Peripheral and Ameliorates CNS Pathology in Mucopolysaccharidosis IIIA Mice

Perinatal Lethal Gaucher Disease (Citations: 1)

A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients (Citations: 1)

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing

Characterization of the Biosynthesis, Processing and Kinetic Mechanism of Action of the Enzyme Deficient in Mucopolysaccharidosis IIIC


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Amparo Chabas (Amparo Chabás),Universitat de Barcelona,Genetics & Genealogy,Molecular Biology,Diseases

Publications (69) BibTeX | RIS | RefWorks Download

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles (Citations: 1)

Promising results of the chaperone effect caused by iminosugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease (Citations: 1)

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population (Citations: 7)

Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele (Citations: 3)

Perinatal Lethal Gaucher Disease (Citations: 1)

A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients (Citations: 1)

Publications (69)

BibTeX | RIS | RefWorks Download