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The clinical phenotype and genotype for this disease show considerable variation worldwide, which makes accurate diagnosis difficult. Effective therapy is limited, although hematopoietic stem cell transplantation at an early stage has been established to some extent. We report here the long\u2010term clinical effect on juvenile Krabbe disease for two brothers who underwent hematopoietic stem cell transplantation at an early stage of their disease. We review research into genotype\u2013phenotype correlation for the possibility of early diagnosis at a presymptomatic stage. Medical care for this intractable disease will improve in the near future as a result of the increasing awareness of its molecular pathology and improvements in medical treatment. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/jnr.23914","type":"journal-article","created":{"date-parts":[[2016,9,17]],"date-time":"2016-09-17T11:22:31Z","timestamp":1474111351000},"page":"1025-1030","source":"Crossref","is-referenced-by-count":11,"title":["Challenge of phenotype estimation for optimal treatment of Krabbe disease"],"prefix":"10.1002","volume":"94","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3374-6709","authenticated-orcid":false,"given":"Norio","family":"Sakai","sequence":"first","affiliation":[{"name":"Child Healthcare and Genetic Science Laboratory, Division of Health Science Osaka University Graduate School of Medicine Osaka 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