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Search Results - Lucas-Javato, Marta
Search Results - Lucas-Javato, Marta
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Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report
by
Ley-Martos, Myriam
,
Guerrero, Juan M
,
Lucas-Javato, Marta
,
Remón-García, Cristina
,
García-Lozano, J Raúl
,
Colón, Cristóbal
,
Crujeiras, Pablo
,
Rodrigues, Daniel
,
Paúl-Sánchez, Pedro
,
Macher, Hada C
Published in
Medicine (Baltimore)
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Medicine
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Subjects
Arylsulfatase B
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Beta-Galactosidase - Genetics
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Child, Preschool
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Clinical Case Report
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Enzyme Replacement Therapy - Methods
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General & Internal Medicine
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Glycosaminoglycans - Urine
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Homozygote
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Humans
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Life Sciences & Biomedicine
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Lysosomal Disorder
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Male
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Medicine, General & Internal
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Mucopolysaccharidosis Iv - Drug Therapy
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Mucopolysaccharidosis Iv - Genetics
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Mucopolysaccharidosis Iv - Urine
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Mucopolysaccharidosis Type V
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N-Acetylgalactosamine-4-Sulfatase - Genetics
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N-Acetylgalactosamine-4-Sulfatase - Therapeutic Use
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Phenotype
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