Cardiac function and incidence of unexplained myocardial scarring in patients with primary carnitine deficiency - a cardiac magnetic resonance study. [PDF]
Sci Rep, 2019 Kyhl K +6 more
europepmc +3 more sources
Primary carnitine deficiency in two sisters with intractable epilepsy and reversible metabolic cardiomyopathy: Two case reports. [PDF]
Exp Ther Med, 2020 Yang XF, Liu GS, Yi B.
europepmc +3 more sources
First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder. [PDF]
Brain Sci, 2019 Guevara-Campos J +3 more
europepmc +3 more sources
A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency. [PDF]
Hum Mutat, 2019 Ferdinandusse S +10 more
europepmc +3 more sources
Deficient Muscle Carnitine Transport in Primary Carnitine Deficiency [PDF]
Pediatric Research, 1997 Primary carnitine deficiency is associated with deficient blood and tissue carnitine concentrations. The clinical syndrome is dominated by heart and skeletal muscle symptoms, and the clinical response to oral carnitine supplementation is life-saving. Carnitine uptake has been shown to be defective in cultured skin fibroblasts and leukocytes obtained ...
R, Pons +8 more
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Liječnički vjesnik, 2023 Carnitine uptake defect (CUD) is a rare autosomal recessive disorder caused by pathogenic variants in the SLC22A5 gene, resulting in primary carnitine transporter (OCTN2) deficiency and disturbed fatty acid oxidation. Patients may present in infancy with
Lea Klepač +4 more
doaj +1 more source
Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis. [PDF]
BMJ Case Rep, 2018 Echaniz-Laguna A +3 more
europepmc +3 more sources
Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency [PDF]
, 2012 Although the diagnosis of a primary carnitine deficiency is usually based on a very low level of free and total carnitine (free carnitine: 1-5 μM, normal 20-55 μM) (Longo et al. 2006), we detected a patient via newborn screening with a total carnitine level 67 % of the normal value.
Boer, L. de +2 more
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Primary carnitine deficiency cardiomyopathy
International Journal of Cardiology, 2014 Shu-shui Wang , Jiao Rao , Yu-fen Li , Zhi-wei Zhang ⁎, Guo-hong Zeng ⁎⁎ a Department of Pediatric Cardiology, Guangdong Cardiovascular Institute, Guangdong Academy of Medical Science/Guangdong General Hospital, No. 96, Dongchuan Rd, Guangzhou City, Guangdong Province 510100, PR China b Department of Heart Center, Guangdong Women and Children Hospital,
Wang, Shu-shui +4 more
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Effect of Combined Oral Ferrotherapy with L-carnitine on Exercise Tolerance of Patients with Chronic Heart Failure with Reduced Ejection Fraction of Left Ventricle with Concomitant Iron Deficiency Anemia [PDF]
, 2019 According to numerous studies, a high prevalence of iron deficiency (ID) with anaemic syndrome and its association with mortality during chronic heart failure (CHF) have been revealed.
Ivanov, V. (Valerii) +1 more
core +3 more sources