A pyruvate kinase deficiency child with novel PK-LR gene mutations was successfully cured by matched unrelated donor peripheral blood stem cell transplantation.

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Title: A pyruvate kinase deficiency child with novel PK-LR gene mutations was successfully cured by matched unrelated donor peripheral blood stem cell transplantation.
Authors: Zhan LP; Department of Pediatrics, Sun Yat-sen Memorial Hospital, SunYat-sen University, Guangzhou, China.; Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes, Sun Yat-sen University, Guangzhou, China., Que LP; Department of Pediatrics, Sun Yat-sen Memorial Hospital, SunYat-sen University, Guangzhou, China.; Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes, Sun Yat-sen University, Guangzhou, China., Wu ZZ; Department of Pediatrics, Sun Yat-sen Memorial Hospital, SunYat-sen University, Guangzhou, China.; Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes, Sun Yat-sen University, Guangzhou, China., Liu DD; Department of Pediatrics, Sun Yat-sen Memorial Hospital, SunYat-sen University, Guangzhou, China.; Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes, Sun Yat-sen University, Guangzhou, China., Wang KM; Department of Pediatrics, Sun Yat-sen Memorial Hospital, SunYat-sen University, Guangzhou, China.; Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes, Sun Yat-sen University, Guangzhou, China., Xu HG; Department of Pediatrics, Sun Yat-sen Memorial Hospital, SunYat-sen University, Guangzhou, China.; Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes, Sun Yat-sen University, Guangzhou, China., Fang JP; Department of Pediatrics, Sun Yat-sen Memorial Hospital, SunYat-sen University, Guangzhou, China.; Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes, Sun Yat-sen University, Guangzhou, China., Huang K; Department of Pediatrics, Sun Yat-sen Memorial Hospital, SunYat-sen University, Guangzhou, China.; Key Laboratory of Malignant Tumor Gene Regulation and Target Therapy of Guangdong Higher Education Institutes, Sun Yat-sen University, Guangzhou, China.
Source: Pediatric transplantation [Pediatr Transplant] 2021 Nov; Vol. 25 (7), pp. e14078. Date of Electronic Publication: 2021 Jul 13.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 9802574 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-3046 (Electronic) Linking ISSN: 13973142 NLM ISO Abbreviation: Pediatr Transplant Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1399-3046
DOI:10.1111/petr.14078