折居 忠夫

Production of MPS Ⅶ mouse (Gus(tm(hE540A. mE536A)Sly))doubly tolerant to human and mouse beta-glucuronidase 

Hum Mol Genet (Academic Journal,2003) 12(9) 961-973 2003年5月  

Production of MPS VII mouse (Gus(tm(hE540A center dot mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase 

HUMAN MOLECULAR GENETICS 12(9) 961-973 2003年5月  

Missense models [Gus(tm(E536A)Sly), Gus(tm(E536Q)Sly), and Gus(tm(L175F)Sly)] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis 

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 99(23) 14982-14987 2002年11月  

Methylation patterns of the human beta-glucuronidase gene locus: Boundaries of methylation and general implications for frequent point mutations at CpG dinucleotides 

GENOMICS 79(3) 363-375 2002年3月  

Epileptic seizures and structural abnormalities in a patient with holoprosencephaly 

BRAIN & DEVELOPMENT 23(4) 264-268 2001年7月  

Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders 

JOURNAL OF INHERITED METABOLIC DISEASE 24(2) 151-165 2001年4月  

保育士と母親間の病気のとらえ方の違いと投薬についての検討 

小児保健研究 60(2) 345-350 2001年  

小児の嘔吐に対する五苓散注腸の検討-外来および家庭で実施して- 

看護学雑誌 65(5) 488-490 2001年  

Improvement of neurological symptoms by enzyme replacement therapy for Gaucher disease type IIIb 

EUROPEAN JOURNAL OF PEDIATRICS 160(1) 63-64 2001年1月  

Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): Comparative study of PEX6 and PEX1 

PEDIATRIC RESEARCH 48(4) 541-545 2000年10月