|1.||Kodama, Hiroko: 5 articles (01/2015 - 05/2002)|
|2.||Yagi, Mariko: 3 articles (01/2015 - 05/2014)|
|3.||Kusunoki, Noriko: 2 articles (01/2015 - 05/2014)|
|4.||Lee, Tomoko: 2 articles (01/2015 - 05/2014)|
|5.||Iijima, Kazumoto: 2 articles (01/2015 - 05/2014)|
|6.||Takeshima, Yasuhiro: 2 articles (01/2015 - 05/2014)|
|7.||Yoo, Han-Wook: 1 article (02/2015)|
|8.||Kim, Ja Hye: 1 article (02/2015)|
|9.||Lee, Beom Hee: 1 article (02/2015)|
|10.||Choi, Jin-Ho: 1 article (02/2015)|
|2.||Menkes Kinky Hair Syndrome (Menkes Disease)
02/01/2015 - "With the advent of subcutaneous copper-histidine therapy, the early diagnosis of Menkes disease becomes of utmost importance for patients' prognosis. "
02/01/2015 - "Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients."
10/01/2014 - "We conclude that early copper histidine for Menkes disease is safe and efficacious, with treatment outcomes influenced by the timing of intervention, and ATP7A mutation. "
10/01/2014 - "In this paper, we summarize somatic growth and neurodevelopmental outcomes for 60 subjects enrolled in a recently concluded phase I/II clinical trial of copper histidine for Menkes disease (ClinicalTrials.gov Identifier: NCT00001262). "
01/01/2012 - "The description of this new mutation and the response of the patient to Cu-His treatment will contribute to the growing body of knowledge about treatment response in Menkes disease."
|3.||Mitochondrial Diseases (Mitochondrial Disease)
01/01/2004 - "A greater understanding of the pathophysiology of a number of nuclear genetic mitochondrial disorders suggests new avenues for treatment (such as copper-histidine in children with SCO2 gene mutations, and strategies modifying intra-mitochondrial nucleoside pools in the various disorders of mtDNA maintenance). "
09/01/2005 - "We describe a child with classical Menkes disease with a novel ATP7A mutation, intractable seizures, severe hypotonia and developmental delay, hypopigmentation of the skin and hair, and failure to thrive, who was treated with daily subcutaneous copper histidine injections for 2(1/2) years, beginning at 15 months of age. "
|5.||Infantile Spasms (West Syndrome)
|4.||Mitochondrial DNA (mtDNA)