[HTML][HTML] Primary carnitine deficiency and cardiomyopathy
L Fu, M Huang, S Chen - Korean circulation journal, 2013 - synapse.koreamed.org
Carnitine is essential for the transfer of long-chain fatty acids from the cytosol into
mitochondria for subsequent β-oxidation. A lack of carnitine results in impaired energy …
mitochondria for subsequent β-oxidation. A lack of carnitine results in impaired energy …
Treatable inborn errors of metabolism causing neurological symptoms in adults
SM Sirrs, A Lehman, S Stockler… - Molecular genetics and …, 2013 - Elsevier
Background The identification of inborn errors of metabolism (IEM) in adults presenting with
a wide range of neurological symptoms is a relatively new field in medicine. We sought to …
a wide range of neurological symptoms is a relatively new field in medicine. We sought to …
Fatty acid oxidation disorders in a Chinese population in Taiwan
YH Chien, NC Lee, MC Chao, LC Chen, LH Chen… - JIMD Reports-Volume …, 2013 - Springer
Background: Fatty acid oxidation (FAO) disorders are a heterogeneous group of inborn
errors in the transportation and oxidation of fatty acids. FAO disorders were thought to be …
errors in the transportation and oxidation of fatty acids. FAO disorders were thought to be …
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
LY Wang, NI Chen, PW Chen, SC Chiang, WL Hwu… - BMC medical …, 2013 - Springer
Background Tandem mass spectrometry (MS/MS) analysis is a powerful tool for newborn
screening, and many rare inborn errors of metabolism are currently screened using MS/MS …
screening, and many rare inborn errors of metabolism are currently screened using MS/MS …
[HTML][HTML] Screening and Diagnosis of Children with Primary Carnitine Deficiency in Zhejiang Province, China 中國浙江省原發性肉鹼缺乏兒童篩查與診斷
Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder, caused by
deficiency in the plasma membrane carnitine transporter. In this report, we aimed to describe …
deficiency in the plasma membrane carnitine transporter. In this report, we aimed to describe …
[PDF][PDF] Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation
YC Chen, YH Chien, PW Chen, N Leung-Sang Tang… - Hum Mutat, 2013 - academia.edu
Rose et al.(2012) reported on genotype–phenotype correlation in carnitine uptake defect
(CUD; also known as primary carnitine deficiency). They demonstrated that cells from …
(CUD; also known as primary carnitine deficiency). They demonstrated that cells from …