논문KCI 등재
Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II
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참고문헌 (10)
- D’Avanzo F, "Mucopolysaccharidosis type II: one hundred years of research, diagnosis, and treatment", Int J Mol Sci, 21, pp.1258~ (2020)
- Manara R, "Hunter syndrome in an 11‐year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution", J Inherit Metab Dis, 33(S3), pp.S67~S72 (2010)
- Jurecka A, "Mucopolysaccharidosis type II in females and response to enzyme replacement therapy", Am J Med Genet A, 158A, pp.450~454 (2012)
- Julien DC, "Immune modulation for enzyme replacement therapy in a female patient with Hunter syndrome", Front Immunol, 11, pp.1000~ (2020)
- Piña-Aguilar RE, "Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation", Eur J Med Genet, 56, pp.159~162 (2013)
- Lagerstedt K, "Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome", Hum Mol Genet, 6, pp.627~633 (1997)
- Allen RC, "Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation", Am J Hum Genet, 51, pp.1229~1239 (1992)
- Sohn YB, "A mother and daughter with the p. R443X mutation of mucopolysaccharidosis type II: genotype and phenotype analysis", Am J Med Genet A, 152A, pp.3129~3132 (2010)
- Sohn YB, "Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II", Clin Genet, 81, pp.185~190 (2012)
- Stapleton M, "Presentation and treatments for mucopolysaccharidosis type II(MPS II; Hunter syndrome)", Expert Opin Orphan Drugs, 5, pp.295~307 (2017)
관련 논문AI추천
The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation기창석, 김종원, 박형두, 서자영, 이수연, 조성윤, 진동규, 허희재대한진단검사의학회 · Annals of Laboratory Medicine2013 · 제33권 제1호A Novel Mutation (c.200T>C) in the NAGLU Gene of a Korean Patient with Mucopolysaccharidosis IIIB기창석, 김영은, 김종원, 박형두, 이수연, 장미애, 조성윤, 진동규대한진단검사의학회 · Annals of Laboratory Medicine2013 · 제33권 제3호Hunter 증후군 환아 증례 1례 보고김윤영, 김장현, 서영민대한한방소아과학회 · 대한한방소아과학회지2007 · 제21권 제2호First Identifcation of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy김승민, 박형준, 신하영, 이정환, 이지현, 최영철대한신경과학회 · Journal of Clinical Neurology2016 · 제12권 제1호터너 증후군 여아에서 발생한 뒤시엔느형 근 디스트로피-증례 보고-양명석, 오기영, 이규훈, 이도경, 최기섭대한재활의학회 · Annals of Rehabilitation Medicine2005 · 제29권 제5호Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease ( RMRP ) Gene Variants: The First Case in KoreaCho Won Kyoung, Hyun Hyesun, Ki Chang-Seok, Lee Jung Hyun, Namgoong Ho, Oh Jin-Hee, Yoo Il Han대한진단검사의학회 · Annals of Laboratory Medicine2021 · 제41권 제3호
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