Han L - Search Results

1

Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches.

Xiao B, Qiu W, Ye J, Zhang H, Zhu H, Wang L, Liang L, Xu F, Chen T, Xu Y, Yu Y, Gu X, Han L. Xiao B, et al. Among authors: han l. Front Genet. 2020 May 20;11:496. doi: 10.3389/fgene.2020.00496. eCollection 2020. Front Genet. 2020. PMID: 32508882 Free PMC article.

2

[Analysis of the MUT gene mutations in patients with methylmalonic acidemia].

Wang F, Han L, Ye J, Qiu W, Zhang Y, Gao X, Wang Y, Yang Y, Gu X. Wang F, et al. Among authors: han l. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):485-9. doi: 10.3760/cma.j.issn.1003-9406.2009.05.001. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009. PMID: 19806564 Chinese.

3

Newborn screening in China: phenylketonuria, congenital hypothyroidism and expanded screening.

Gu X, Wang Z, Ye J, Han L, Qiu W. Gu X, et al. Among authors: han l. Ann Acad Med Singap. 2008 Dec;37(12 Suppl):107-4. Ann Acad Med Singap. 2008. PMID: 19904469 Free article.

4

Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.

Zhu T, Qin S, Ye J, Qiu W, Han L, Zhang Y, Gu X. Zhu T, et al. Among authors: han l. Pediatr Res. 2010 Mar;67(3):280-5. doi: 10.1203/PDR.0b013e3181c9fb85. Pediatr Res. 2010. PMID: 19915519

5

A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency from two unrelated Chinese pedigrees.

Zhang H, Wang Y, Han L, Gu X, Shi D. Zhang H, et al. Among authors: han l. Horm Res Paediatr. 2010;74(2):98-105. doi: 10.1159/000313375. Epub 2010 Apr 15. Horm Res Paediatr. 2010. PMID: 20395664

6

Rapid detection of glycogen storage disease type Ia by DNA microarray.

Xu S, Qin S, Gu X, Qiu W, Ye J, Han L, He L. Xu S, et al. Among authors: han l. Clin Chem Lab Med. 2010 Sep;48(9):1229-34. doi: 10.1515/CCLM.2010.244. Clin Chem Lab Med. 2010. PMID: 20509832

7

Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.

Wang F, Han L, Yang Y, Gu X, Ye J, Qiu W, Zhang H, Zhang Y, Gao X, Wang Y. Wang F, et al. Among authors: han l. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S435-42. doi: 10.1007/s10545-010-9217-0. Epub 2010 Oct 6. J Inherit Metab Dis. 2010. PMID: 20924684

8

Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.

Zhang H, Li J, Zhang X, Wang Y, Qiu W, Ye J, Han L, Gao X, Gu X. Zhang H, et al. Among authors: han l. PLoS One. 2011;6(8):e22951. doi: 10.1371/journal.pone.0022951. Epub 2011 Aug 4. PLoS One. 2011. PMID: 21829674 Free PMC article.

9

Analysis of gene mutations in Chinese patients with maple syrup urine disease.

Yang N, Han L, Gu X, Ye J, Qiu W, Zhang H, Gong Z, Zhang Y. Yang N, et al. Among authors: han l. Mol Genet Metab. 2012 Aug;106(4):412-8. doi: 10.1016/j.ymgme.2012.05.023. Epub 2012 Jun 6. Mol Genet Metab. 2012. PMID: 22727569

10

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.

Zhang H, Wang Y, Gong Z, Li X, Qiu W, Han L, Ye J, Gu X. Zhang H, et al. Among authors: han l. Orphanet J Rare Dis. 2013 Jan 28;8:15. doi: 10.1186/1750-1172-8-15. Orphanet J Rare Dis. 2013. PMID: 23356216 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

13,683 results

Search Page

Filters