연구동향 분석

Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy

준선희 한민제 이윤진 은백린 박성섭 송상훈 박형두 송정한 성문우 이승준 2015년

논문상세정보
인용/피인용
' Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy' 의 주제별 논문영향력
논문영향력 선정 방법
논문영향력 요약
주제
  • 의학
  • arylsulfatase a
  • geneticmutation
  • metachromaticleukodystrophy
  • pseudodeficiency
동일주제 총논문수 논문피인용 총횟수 주제별 논문영향력의 평균
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' Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy' 의 참고문헌

  • 백색질장애의 임상적 고찰
    강소연 대한소아신경학회지 19 (2) : 114 ~ 122 [2011]
  • 백색질장애의 임상적 고찰
    강소연 대한소아신경학회지 19 2 114-122 [2011]
  • Ultra-performance liquid chromatography/tandem mass spectrometry for determination of sulfatides in dried blood spots from patients with metachromatic leukodystrophy
    Han M Rapid Commun Mass Spectrom 28 : 587 ~ 594 [2014]
  • Ultra-performance liquid chromatography/tandem mass spectrometry for determination of sulfatides in dried blood spots from patients with metachromatic leukodystrophy
    Han M Rapid Commun Mass Spectrom 28 587-594 [2014]
  • Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient
    Fluharty AL Am J Hum Genet 49 : 1340 ~ 1350 [1991]
  • Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient
    Fluharty AL Am J Hum Genet 49 1340-1350 [1991]
  • The assay of arylsulphatases A and B in human urine
    Baum H Clin Chim Acta 4 : 453 ~ 455 [1959]
  • The assay of arylsulphatases A and B in human urine
    Baum H Clin Chim Acta 4 453-455 [1959]
  • Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    Richards S Genet Med [2015]
  • Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    Richards S Genet Med - [2015]
  • Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy
    Berger J Am J Med Genet 69 : 335 ~ 340 [1997]
  • Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy
    Berger J Am J Med Genet 69 335-340 [1997]
  • Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease
    Eto Y Mol Cell Biochem 119 : 179 ~ 184 [1993]
  • Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease
    Eto Y Mol Cell Biochem 119 179-184 [1993]
  • Metachromatic leukodystrophy--an update
    Gieselmann V Neuropediatrics 41 : 1 ~ 6 [2010]
  • Metachromatic leukodystrophy--an update
    Gieselmann V Neuropediatrics 41 1-6 [2010]
  • Identification of a Novel Splicing Mutation in the ARSA Gene in a Patient with Late-infantile Form of Metachromatic Leukodystrophy
    강동희 Annals of Laboratory Medicine 30 (5) : 516 ~ 520 [2010]
  • Identification of a Novel Splicing Mutation in the ARSA Gene in a Patient with Late-infantile Form of Metachromatic Leukodystrophy
    강동희 Annals of Laboratory Medicine 30 5 516-520 [2010]
  • Human gene mutation database-Professional 2014.1. “HGMD Mutation Result,”
  • Human Genome Variation Society. Nomenclature for the description of sequence variants
  • GeneReviews-Arylsulfatase A Deficiency
  • Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity
    Regis S Hum Genet 110 : 351 ~ 355 [2002]
  • Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity
    Regis S Hum Genet 110 351-355 [2002]
  • Biochemical profiling to predict disease severity in metachromatic leukodystrophy
    Tan MA Mol Genet Metab 99 : 142 ~ 148 [2010]
  • Biochemical profiling to predict disease severity in metachromatic leukodystrophy
    Tan MA Mol Genet Metab 99 142-148 [2010]
  • Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site
    Gieselmann V Proc Natl Acad Sci USA 86 : 9436 ~ 9440 [1989]
  • Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site
    Gieselmann V Proc Natl Acad Sci USA 86 9436-9440 [1989]
  • A novel arylsulfatase A protein variant and genotype in two patients with major depression
    Ricketts MH J Affect Disord 40 : 137 ~ 147 [1996]
  • A novel arylsulfatase A protein variant and genotype in two patients with major depression
    Ricketts MH J Affect Disord 40 137-147 [1996]
  • A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis
    이지현 대한소아신경학회지 19 (3) : 272 ~ 276 [2011]
  • A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis
    이지현 대한소아신경학회지 19 3 272-276 [2011]