Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, et al. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet. 1999;21(1):91–4.
Article
CAS
PubMed
Google Scholar
Tang NL, Ganapathy V, Wu X, Hui J, Seth P, Yuen PM, et al. Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. Hum Mol Genet. 1999;8(4):655–60.
Article
CAS
PubMed
Google Scholar
Longo N. Primary carnitine deficiency and newborn screening for disorders of the carnitine cycle. Ann Nutr Metab. 2016;68(Suppl 3):5–9.
Article
PubMed
Google Scholar
Magoulas PL, El-Hattab AW. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2012;7:68.
Article
PubMed
PubMed Central
Google Scholar
El-Hattab AW, Li FY, Shen J, Powell BR, Bawle EV, Adams DJ, et al. Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. Genet Med. 2010;12(1):19–24.
Article
CAS
PubMed
Google Scholar
Rasmussen J, Duno M, Lund AM, Steuerwald U, Hansen SH, Joensen HD, et al. Increased risk of sudden death in untreated Primary Carnitine Deficiency. J Inherit Metab Dis. 2019;43:290–6.
Article
PubMed
Google Scholar
Lin Y, Xu H, Zhou D, Hu Z, Zhang C, Hu L, et al. Screening 3.4 million newborns for primary carnitine deficiency in Zhejiang Province, China. Clin Chim Acta. 2020;507:199–204.
Article
CAS
PubMed
Google Scholar
Frigeni M, Balakrishnan B, Yin X, Calderon FRO, Mao R, Pasquali M, et al. Functional and molecular studies in primary carnitine deficiency. Hum Mutat. 2017;38(12):1684–99.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lin Y, Lin W, Chen Y, Lin C, Zheng Z, Zhuang J, et al. Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn. BMC Pediatr. 2020;20(1):478.
Article
CAS
PubMed
PubMed Central
Google Scholar
Ferdinandusse S, Te Brinke H, Ruiter JPN, Haasjes J, Oostheim W, van Lenthe H, et al. A mutation creating an upstream translation initiation codon in SLC22A5 5’UTR is a frequent cause of primary carnitine deficiency. Hum Mutat. 2019;40(10):1899–904.
Article
CAS
PubMed
PubMed Central
Google Scholar
Zhang Y, Li H, Liu J, Yan H, Liu Q, Wei X, et al. Molecular investigation in Chinese patients with primary carnitine deficiency. Mol Genet Genomic Med. 2019;7(9):e901.
PubMed
PubMed Central
Google Scholar
Zhou W, Li H, Huang T, Zhang Y, Wang C, Gu M. Biochemical, molecular, and clinical characterization of patients with primary carnitine deficiency via large-scale newborn screening in Xuzhou Area. Front Pediatr. 2019;7:50.
Article
PubMed
PubMed Central
Google Scholar
Sun Y, Wang YY, Jiang T. Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening. J Pediatr Endocrinol Metab. 2017;30(8):879–83.
Article
CAS
PubMed
Google Scholar
Lee NC, Tang NL, Chien YH, Chen CA, Lin SJ, Chiu PC, et al. Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. Mol Genet Metab. 2010;100(1):46–50.
Article
CAS
PubMed
Google Scholar
Gallant NM, Leydiker K, Wilnai Y, Lee C, Lorey F, Feuchtbaum L, et al. Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. Mol Genet Metab. 2017;122(3):76–84.
Article
CAS
PubMed
Google Scholar
Zhang R, Qiang R, Song C, Ma X, Zhang Y, Li F, et al. Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population. Sci Rep. 2021;11(1):2699.
Article
CAS
PubMed
PubMed Central
Google Scholar
Yang X, Li Q, Wang F, Yan L, Zhuang D, Qiu H, et al. Newborn screening and genetic analysis identify six novel genetic variants for primary carnitine deficiency in Ningbo Area, China. Front Genet. 2021;12:686137.
Article
CAS
PubMed
PubMed Central
Google Scholar
Huang YL, Tang CF, Liu SC, Sheng HY, Tang F, Jiang X, et al. Newborn screening for primary carnitine deficiency and variant spectrum of SLC22A5 gene in Guangzhou. Zhonghua Er Ke Za Zhi. 2020;58(6):476–81.
CAS
PubMed
Google Scholar
Wilson C, Knoll D, de Hora M, Kyle C, Glamuzina E, Webster D. The decision to discontinue screening for carnitine uptake disorder in New Zealand. J Inherit Metab Dis. 2019;42(1):86–92.
Article
CAS
PubMed
Google Scholar
Verbeeten KC, Lamhonwah AM, Bulman D, Faghfoury H, Chakraborty P, Tein I, et al. Carnitine uptake defect due to a 5’UTR mutation in a pedigree with false positives and false negatives on Newborn screening. Mol Genet Metab. 2020;129(3):213–8.
Article
CAS
PubMed
Google Scholar
Lin Y, Zhang W, Huang C, Lin C, Lin W, Peng W, et al. Increased detection of primary carnitine deficiency through second-tier newborn genetic screening. Orphanet J Rare Dis. 2021;16(1):149.
Article
PubMed
PubMed Central
Google Scholar
Luo X, Sun Y, Xu F, Guo J, Li L, Lin Z, et al. A pilot study of expanded newborn screening for 573 genes related to severe inherited disorders in China: results from 1,127 newborns. Ann Transl Med. 2020;8(17):1058.
Article
CAS
PubMed
PubMed Central
Google Scholar
Wang T, Ma J, Zhang Q, Gao A, Wang Q, Li H, et al. Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in Suzhou, China: disease spectrum, prevalence, genetic characteristics in a Chinese population. Front Genet. 2019;10:1052.
Article
CAS
PubMed
PubMed Central
Google Scholar
Yang C, Zhou C, Xu P, Jin X, Liu W, Wang W, et al. Newborn screening and diagnosis of inborn errors of metabolism: a 5-year study in an eastern Chinese population. Clin Chim Acta. 2020;502:133–8.
Article
CAS
PubMed
Google Scholar
Tan J, Chen D, Chang R, Pan L, Yang J, Yuan D, et al. Tandem mass spectrometry screening for inborn errors of metabolism in newborns and high-risk infants in Southern China: disease spectrum and genetic characteristics in a Chinese population. Front Genet. 2021;12:631688.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lin Y, Zheng Q, Zheng T, Zheng Z, Lin W, Fu Q. Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population. Clin Chim Acta. 2019;494:106–11.
Article
CAS
PubMed
Google Scholar
Tang NL, Hwu WL, Chan RT, Law LK, Fung LM, Zhang WM. A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients. Hum Mutat. 2002;20(3):232.
Article
PubMed
Google Scholar
Lin Y, Wang W, Lin C, Zheng Z, Fu Q, Peng W, et al. Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening. Orphanet J Rare Dis. 2021;16(1):339.
Article
PubMed
PubMed Central
Google Scholar