{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T17:53:29Z","timestamp":1790704409073,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,10,17]],"date-time":"2017-10-17T00:00:00Z","timestamp":1508198400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["16JC1404600"],"award-info":[{"award-number":["16JC1404600"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81570516, 81270936"],"award-info":[{"award-number":["81570516, 81270936"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>Krabbe disease (<jats:styled-content style=\"fixed-case\">KD<\/jats:styled-content>) is a rare disease caused by the deficiency of \u03b2\u2010galactocerebrosidase. This study investigated 22 unrelated Chinese patients, including their clinical presentations, plasma psychosine levels and \u03b2\u2010galactocerebrosidase gene mutations. We found the late\u2010onset form of <jats:styled-content style=\"fixed-case\">KD<\/jats:styled-content> present in 82% of the patients in our study, which was more prevalent than in patients from other populations. Plasma psychosine levels were elevated in <jats:styled-content style=\"fixed-case\">KD<\/jats:styled-content>, which were correlated with the severity of clinical presentations. Sanger sequencing identified 8 novel mutations, including 7 missense mutations, p.<jats:styled-content style=\"fixed-case\">H253Y<\/jats:styled-content>, p.<jats:styled-content style=\"fixed-case\">S259L<\/jats:styled-content>, p.<jats:styled-content style=\"fixed-case\">P318L<\/jats:styled-content>, p.<jats:styled-content style=\"fixed-case\">F350V<\/jats:styled-content>, p.<jats:styled-content style=\"fixed-case\">T428A<\/jats:styled-content>, p.<jats:styled-content style=\"fixed-case\">L530P<\/jats:styled-content>, p.<jats:styled-content style=\"fixed-case\">G586D<\/jats:styled-content>, and 1 splicing mutation, c.1251+<jats:styled-content style=\"fixed-case\">1G<\/jats:styled-content>&gt;A. Quantitative real\u2010time polymerase chain reaction (<jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>) and multiplex ligation\u2010dependent probe amplification identified a novel exon 12 and 14 deletion, separately. Next generation sequencing, applied at the final step, revealed 2 missense mutant alleles missed using Sanger sequencing. The most common mutation in Chinese population is p.<jats:styled-content style=\"fixed-case\">P154H<\/jats:styled-content>, which accounts for 20.5% of alleles. Consistent with the higher prevalence of the late\u2010onset form of <jats:styled-content style=\"fixed-case\">KD<\/jats:styled-content>, missense mutations predominated in our study, different with the common mutation types in Europe and Japan. This work was the first large\u2010scale study of Chinese <jats:styled-content style=\"fixed-case\">KD<\/jats:styled-content> patients describing their clinical, biochemical and genetic characteristics, which furthered our understanding of this classical neurological lysosomal storage disease.<\/jats:p>","DOI":"10.1111\/cge.13071","type":"journal-article","created":{"date-parts":[[2017,6,9]],"date-time":"2017-06-09T11:10:56Z","timestamp":1497006656000},"page":"248-254","source":"Crossref","is-referenced-by-count":26,"title":["Large\u2010scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease"],"prefix":"10.1111","volume":"93","author":[{"given":"S.","family":"Zhao","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology and Genetic, Xin Hua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine  Shanghai 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