Dai LF - Search Results

1

[Clinical features and diagnosis of childhood leukoencephalopathy with cerebral calcifications and cysts in four cases].

Jin H, Wu HS, Ding CH, Jin Z, Huang Y, Zhou CJ, Zhang WH, Lyu JL, Dai LF, Ren XT, Ge M, Fang F. Jin H, et al. Among authors: dai lf. Zhonghua Er Ke Za Zhi. 2018 Jul 2;56(7):539-544. doi: 10.3760/cma.j.issn.0578-1310.2018.07.013. Zhonghua Er Ke Za Zhi. 2018. PMID: 29996189 Chinese.

2

[Clinical and genetic features of Schwartz-Jampel syndrome in a Chinese child: case report and literature review].

Dai L, Fang F, Huang Y, Cheng H, Ren C. Dai L, et al. Zhonghua Er Ke Za Zhi. 2015 Nov;53(11):855-9. Zhonghua Er Ke Za Zhi. 2015. PMID: 26758326 Review. Chinese.

3

[Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations].

Ren C, Fang F, Huang Y, Cheng H, Dai L. Ren C, et al. Zhonghua Er Ke Za Zhi. 2015 Dec;53(12):938-42. Zhonghua Er Ke Za Zhi. 2015. PMID: 26887550 Chinese.

4

[Clinical and electroencephalographic analysis of anti-N-methyl-D-aspartate receptor encephalitis in children].

Li H, Wang XH, Fang F, Ding CH, Lyu JL, Chen CH, Han TL, Wu Y, Zhang WH, Li JW, Wang HM, Yang XY, Zhang S, Deng J, Gong S, Sun X, Dai LF. Li H, et al. Among authors: dai lf. Zhonghua Er Ke Za Zhi. 2016 Jul;54(7):510-4. doi: 10.3760/cma.j.issn.0578-1310.2016.07.007. Zhonghua Er Ke Za Zhi. 2016. PMID: 27412741 Chinese.

5

WITHDRAWN: Clinical and molecular analysis of six novel GALC mutations identified in 7 Chinese children with Krabbe disease.

Dai L, Han T, Yang X, Wang X, Li J, Lu J, Zhang W, Ren X, Fang F. Dai L, et al. Brain Dev. 2017 May 25:S0387-7604(17)30145-6. doi: 10.1016/j.braindev.2017.05.005. Online ahead of print. Brain Dev. 2017. PMID: 28552323

6

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S. Repp BM, et al. Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8. Orphanet J Rare Dis. 2018. PMID: 30025539 Free PMC article.

7

A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency.

Dai L, Ding C, Fang F. Dai L, et al. Brain Dev. 2019 Feb;41(2):205-209. doi: 10.1016/j.braindev.2018.08.003. Epub 2018 Aug 23. Brain Dev. 2019. PMID: 30144970

8

An inherited KMT2B duplication variant in a Chinese family with dystonia and/or development delay.

Dai L, Ding C, Fang F. Dai L, et al. Parkinsonism Relat Disord. 2019 Jun;63:227-228. doi: 10.1016/j.parkreldis.2018.08.021. Epub 2018 Aug 31. Parkinsonism Relat Disord. 2019. PMID: 30196991 No abstract available.

9

[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes].

Dai LF, Fang F, Liu ZM, Shen DM, Ding CH, Li JW, Ren XT, Wu HS. Dai LF, et al. Zhonghua Er Ke Za Zhi. 2019 Mar 2;57(3):211-216. doi: 10.3760/cma.j.issn.0578-1310.2019.03.011. Zhonghua Er Ke Za Zhi. 2019. PMID: 30818899 Chinese.

10

Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.

Hernandez CC, XiangWei W, Hu N, Shen D, Shen W, Lagrange AH, Zhang Y, Dai L, Ding C, Sun Z, Hu J, Zhu H, Jiang Y, Macdonald RL. Hernandez CC, et al. Brain. 2019 Jul 1;142(7):1938-1954. doi: 10.1093/brain/awz123. Brain. 2019. PMID: 31056671 Free PMC article.

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