1. 邱贵兴 中国 中国医学科学院 中国工程院院士 CCN6mutation detection in Chinese patients with progressive pseudo-rheumatoid dysplasia and identifi..
2. 杨焕明 中国 中国科学院 中国科学院院士;2014美国科学院院士 Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients
3. 张学 中国 哈尔滨医科大学 中国工程院院士 Multiple SNPs Detection Based on Lateral Flow Assay for Phenylketonuria Diagnostic
4. 曾小峰 中国 中国医学科学院 教授、主任医师 Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retr..
5. 马旭 中国 国家计划生育委员会 所长 Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia
6. 马旭 中国 国家计划生育委员会 所长 Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS
7. Carlo,Agostoni 意大利 University of Milan Progressive pseudorheumatoid dysplasia: a rare childhood disease
8. Andrea,Superti-Furga 瑞士 University of LAUSANNE Progressive pseudorheumatoid dysplasia: a rare childhood disease
9. Rolfs, Arndt 德国 University of Rostock Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutation..
10. Hoffmann, Georg F. 德国 Heidelberg University Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and am..
11. Fukao, Toshiyuki 日本 Gifu University Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and am..
12. 汪建 中国 深圳华大基因研究院 Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients
13. Jonathan A,Bernstein 美国 University of Cincinnati WISP3 mutation associated with pseudorheumatoid dysplasia
14. Michael P,Snyder 美国 Stanford University WISP3 mutation associated with pseudorheumatoid dysplasia
15. Chang-Seok,Ki 韩国 Sungkyunkwan University Reassessing the significance of the PAH c.158G > A (p.Arg53His) variant in patients with hyperphenyl..
16. 贾建平 中国 首都医科大学 Manic-depressive Psychosis as the Initial Symptom in Adult Siblings with Late-onset Combined Methylm..
17. Henk J,Blom 德国 University of Freiburg Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD,..
18. Soudeh,Ghafouri-Fard 伊朗 SHAHID BEHESHTI UNIVERSITY MEDICAL SCIENCES A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease[MSUD..
19. Klaus,Seppi 奥地利 Innsbruck Medical University Three new cases of late-onset cblC defect and review of the literature illustrating when to consider..
20. Donald W,Jacobsen 美国 LERNER Research Institute Proteomics of vitamin B-12 processing