Li Q - Search Results

1

Plasma exchange therapy for familial chylomicronemia syndrome in infant: A case report.

Han L, Qiang G, Yang L, Kou R, Li Q, Xin M, Liu R, Zhang Z. Han L, et al. Among authors: li q. Medicine (Baltimore). 2022 Aug 12;101(32):e29689. doi: 10.1097/MD.0000000000029689. Medicine (Baltimore). 2022. PMID: 35960041 Free PMC article.

2

Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report.

Feng B, Sun G, Kong Q, Li Q. Feng B, et al. Among authors: li q. Medicine (Baltimore). 2018 Nov;97(44):e12870. doi: 10.1097/MD.0000000000012870. Medicine (Baltimore). 2018. PMID: 30383639 Free PMC article.

3

Lissencephaly caused by a de novo mutation in tubulin TUBA1A: a case report and literature review.

Ren S, Kong Y, Liu R, Li Q, Shen X, Kong QX. Ren S, et al. Among authors: li q. Front Pediatr. 2024 May 14;12:1367305. doi: 10.3389/fped.2024.1367305. eCollection 2024. Front Pediatr. 2024. PMID: 38813542 Free PMC article.

4

Compound heterozygous mutations in the ALDH3A2 gene cause Sjögren-Larsson syndrome: a case report.

Liu YD, Lin HJ, Li CY, Sun GF, Hu XB, Ma MY, Sun Y, Feng BZ, Li QB, Kong QX. Liu YD, et al. Int J Neurosci. 2020 Nov;130(11):1156-1160. doi: 10.1080/00207454.2020.1716750. Epub 2020 Jan 29. Int J Neurosci. 2020. PMID: 31944864

5

Two siblings suffering from Angelman Syndrome with a novel c.1146T>G mutation in UBE3A: A case report.

Liu C, Liu RH, Sun GF, Yang L, Zheng QL, Wei SY, Kong QX, Li QB. Liu C, et al. Biomed Rep. 2022 Jun;16(6):48. doi: 10.3892/br.2022.1531. Epub 2022 Apr 19. Biomed Rep. 2022. PMID: 35620312 Free PMC article.

6

A case of alternating hemiplegia in 2-month-old children with nystagmus as the first symptom: A case report.

Qiao Q, Li Q. Qiao Q, et al. Among authors: li q. Medicine (Baltimore). 2024 Sep 27;103(39):e39774. doi: 10.1097/MD.0000000000039774. Medicine (Baltimore). 2024. PMID: 39331927 Free PMC article.

7

Paroxysmal spasticity of lower extremities as the initial symptom in two siblings with maple syrup urine disease.

Liu YD, Chu X, Liu RH, Sun Y, Kong QX, Li QB. Liu YD, et al. Mol Med Rep. 2019 Jun;19(6):4872-4880. doi: 10.3892/mmr.2019.10133. Epub 2019 Apr 5. Mol Med Rep. 2019. PMID: 30957186 Free PMC article.

8

Child with cerebral malformations and epilepsy.

Sun Y, Shen X, Li Q, Kong Q. Sun Y, et al. Among authors: li q. Int J Neurosci. 2018 Sep;128(9):881-885. doi: 10.1080/00207454.2018.1433177. Epub 2018 Mar 6. Int J Neurosci. 2018. PMID: 29372643

9

Multimodal Neuroimaging in Rett Syndrome With MECP2 Mutation.

Kong Y, Li QB, Yuan ZH, Jiang XF, Zhang GQ, Cheng N, Dang N. Kong Y, et al. Front Neurol. 2022 Feb 23;13:838206. doi: 10.3389/fneur.2022.838206. eCollection 2022. Front Neurol. 2022. PMID: 35280272 Free PMC article. Review.

10

Brain Proteomic Profiling in Intractable Epilepsy Caused by TSC1 Truncating Mutations: A Small Sample Study.

Liu YD, Ma MY, Hu XB, Yan H, Zhang YK, Yang HX, Feng JH, Wang L, Zhang H, Zhang B, Li QB, Zhang JC, Kong QX. Liu YD, et al. Front Neurol. 2020 May 29;11:475. doi: 10.3389/fneur.2020.00475. eCollection 2020. Front Neurol. 2020. PMID: 32655475 Free PMC article.

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