Primary Carnitine Deficiency
Last Posted: Jun 16, 2020
- [Newborn screening for primary carnitine deficiency and variant spectrum of SLC22A5 gene in Guangzhou].
Huang Y L et al. Zhonghua er ke za zhi = Chinese journal of pediatrics 2020 Jun 58(6) 476-481
- Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population.
Wang Shuting et al. Journal of pediatric endocrinology & metabolism : JPEM 2020 May
- Screening 3.4 million newborns for primary carnitine deficiency in Zhejiang Province, China.
Lin Yiming et al. Clinica chimica acta; international journal of clinical chemistry 2020 May 507199-204
- Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Lin Yiming et al. Clinica chimica acta; international journal of clinical chemistry 2019 Mar
- Using dried blood spot samples from a trio for linked-read whole-exome sequencing.
Mortensen Ólavur et al. European journal of human genetics : EJHG 2019 Feb
- Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
Gallant N M et al. Molecular genetics and metabolism 2017 Nov 122(3) 76-84
- Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
Kang Eungu et al. BMC pediatrics 2018 Mar 18(1) 103
- Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.
Hassan Fayza A et al. Journal of medical screening 2016 Sep 23(3) 124-9
- Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening.
Sun Yun et al. Journal of pediatric endocrinology & metabolism : JPEM 2017 Jul
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