161 related articles for article (PubMed ID: 34249102)
1. Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, China.
Yang X; Li Q; Wang F; Yan L; Zhuang D; Qiu H; Li H; Chen L
Front Genet; 2021; 12():686137. PubMed ID: 34249102
[TBL] [Abstract][Full Text] [Related]
2. Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.
Lin Y; Lin B; Chen Y; Zheng Z; Fu Q; Lin W; Zhang W
Orphanet J Rare Dis; 2021 Dec; 16(1):503. PubMed ID: 34863234
[TBL] [Abstract][Full Text] [Related]
3. [Newborn screening for primary carnitine deficiency and variant spectrum of SLC22A5 gene in Guangzhou].
Huang YL; Tang CF; Liu SC; Sheng HY; Tang F; Jiang X; Zheng RD; Mei HF; Liu L
Zhonghua Er Ke Za Zhi; 2020 Jun; 58(6):476-481. PubMed ID: 32521959
[No Abstract] [Full Text] [Related]
4. Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China.
Chang S; Yang Y; Xu F; Ji W; Zhan X; Gao X; Chen T; Qiu W; Zhang H; Liang L; Lu D; Zhang K; Gu X; Han L
Front Genet; 2022; 13():1062715. PubMed ID: 36568374
[No Abstract] [Full Text] [Related]
5. Screening 3.4 million newborns for primary carnitine deficiency in Zhejiang Province, China.
Lin Y; Xu H; Zhou D; Hu Z; Zhang C; Hu L; Zhang Y; Zhu L; Lu B; Zhang T; Huang X
Clin Chim Acta; 2020 Aug; 507():199-204. PubMed ID: 32371215
[TBL] [Abstract][Full Text] [Related]
6. Increased detection of primary carnitine deficiency through second-tier newborn genetic screening.
Lin Y; Zhang W; Huang C; Lin C; Lin W; Peng W; Fu Q; Chen D
Orphanet J Rare Dis; 2021 Mar; 16(1):149. PubMed ID: 33757571
[TBL] [Abstract][Full Text] [Related]
7. Newborn screening for primary carnitine deficiency in Quanzhou, China.
Lin W; Wang K; Zheng Z; Chen Y; Fu C; Lin Y; Chen D
Clin Chim Acta; 2021 Jan; 512():166-171. PubMed ID: 33181153
[TBL] [Abstract][Full Text] [Related]
8. Phenotypic and molecular features of Thai patients with primary carnitine deficiency.
Liammongkolkul S; Boonyawat B; Vijarnsorn C; Tim-Aroon T; Wasant P; Vatanavicharn N
Pediatr Int; 2023 Jan; 65(1):e15404. PubMed ID: 36321377
[TBL] [Abstract][Full Text] [Related]
9. Biochemical and genetic characteristics of 40 neonates with carnitine deficiency.
Zhou X; Teng Y; Lin-Peng S; Li Z; Wu L; Liang D
Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2020 Oct; 45(10):1164-1171. PubMed ID: 33268576
[TBL] [Abstract][Full Text] [Related]
10. [Analysis of blood carnitine profile and SLC22A5 gene variants in 17 neonates with Primary carnitine deficiency].
Song W; Ye S; Zheng L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Feb; 40(2):161-165. PubMed ID: 36709933
[TBL] [Abstract][Full Text] [Related]
11. Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening.
Ji X; Ge Y; Ni Q; Xu S; Xiong Z; Yang L; Hu L; Cao Y; Lu Y; Wei Q; Kang W; Zhuang D; Zhou W; Dong X
Front Genet; 2023; 14():1304458. PubMed ID: 38125748
[TBL] [Abstract][Full Text] [Related]
12. Newborn screening for primary carnitine deficiency using a second-tier genetic test.
Lin Y; Lin C; Zheng Z; Huang C; Peng W
J Pediatr Endocrinol Metab; 2024 Feb; 37(2):163-169. PubMed ID: 38158618
[TBL] [Abstract][Full Text] [Related]
13. [Clinical and genetic characteristics of primary carnitine deficiency identified by neonatal screening].
Li X; Zhu X; Jia C; Ni M; Li Y; Zhang L; Zhao D
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Dec; 36(12):1167-1170. PubMed ID: 31813139
[TBL] [Abstract][Full Text] [Related]
14. Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area.
Zhou W; Li H; Huang T; Zhang Y; Wang C; Gu M
Front Pediatr; 2019; 7():50. PubMed ID: 30863740
[No Abstract] [Full Text] [Related]
15. Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency.
Chen Y; Lin Q; Zeng Y; Qiu X; Liu G; Zhu W
Mol Genet Genomic Med; 2021 Feb; 9(2):e1583. PubMed ID: 33560599
[TBL] [Abstract][Full Text] [Related]
16. [Analysis of metabolic profile and genetic variants for newborns with primary carnitine deficiency from Guangxi].
Geng G; Yang Q; Fan X; Lin C; Wu L; Chen S; Luo J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Nov; 38(11):1051-1054. PubMed ID: 34729741
[TBL] [Abstract][Full Text] [Related]
17. Newborn screening for fatty acid oxidation disorders in a southern Chinese population.
Lin Y; Lin C; Lin B; Zheng Z; Lin W; Chen Y; Chen D; Peng W
Heliyon; 2024 Jan; 10(1):e23671. PubMed ID: 38187300
[TBL] [Abstract][Full Text] [Related]
18. [Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency].
Lin Y; Lin W; Yu K; Zheng F; Zheng Z; Fu Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Feb; 34(1):35-39. PubMed ID: 28186590
[TBL] [Abstract][Full Text] [Related]
19. Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L; Ferdinandusse S; van der Crabben SN; Dekkers E; Fuchs SA; Huidekoper H; Janssen M; Langendonk J; Maase R; de Sain M; Rubio E; van Spronsen FJ; Vaz FM; Verschoof R; de Vries M; Wijburg F; Visser G; Langeveld M
J Med Genet; 2023 Nov; 60(12):1177-1185. PubMed ID: 37487700
[TBL] [Abstract][Full Text] [Related]
20. A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features.
Jolfayi AG; Naderi N; Ghasemi S; Salmanipour A; Adimi S; Maleki M; Kalayinia S
BMC Cardiovasc Disord; 2024 Jan; 24(1):1. PubMed ID: 38166572
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]