Results 51 to 60 of about 100,000 (276)

Unraveling cardiomyocyte responses and intercellular communication alterations in primary carnitine deficiency cardiomyopathy via single-nucleus RNA sequencing. [PDF]

Heliyon
Yin Y, Ye L, Chen M, Liu H, Miao J.
europepmc   +2 more sources

Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area [PDF]

Frontiers in Pediatrics, 2019
Background: Primary carnitine deficiency (PCD) is attributed to a variation in the SLC22A5 (OCTN2) gene which encodes the key protein of the carnitine cycle, the OCTN2 carnitine transporter.
Wei Zhou, Huizhong Li, Ting Huang, Yan Zhang, Chuanxia Wang, Maosheng Gu   +5 more
doaj   +2 more sources

Human model of primary carnitine deficiency cardiomyopathy reveals ferroptosis as a novel disease mechanism

, 2022
Loos M, Klampe B, Schulze T, Yin X, Theofilatos K, Ulmer B, Schulz C, Behrens C, Bergen TV, Adami E, Maatz H, Schweizer M, Brodesser S, Skryabin B, Rozhdestvensky T, Bodbin S, Christ T, Denning C, Huebner N, Mayr M, Eschenhagen T, Hansen A.   +21 more
europepmc   +2 more sources

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, Róin T, Lund A, Vejlstrup N, Madsen PL, Engstrøm T, Rasmussen J.   +6 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, R, Carrozzo, I, Tein, W F, Walker, L J, Addonizio, W, Rhead, A F, Miranda, S, Dimauro, D C, De Vivo   +8 more
openaire   +2 more sources

Mild carnitine uptake defect due to a novel homozygous mutation in the SLC22A5 gene detected by newborn screening

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, Klara Miljanić, Danijela Petković Ramadža, Ivo Barić, Tamara Žigman   +4 more
doaj   +1 more source

Left ventricular noncompaction in primary systemic carnitine deficiency: A rare association

Annals of Pediatric Cardiology, 2021
Left ventricular noncompaction (LVNC) is a rare phenotype of dilated cardiomyopathy. We report a child with primary systemic carnitine deficiency having associated LVNC.
DeepanjanBhattacharya, DeepaSasikumar, HarikrishnanKurup, K M Krishnamoorthy   +3 more
doaj   +1 more source

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, Te Brinke H, Ruiter JPN, Haasjes J, Oostheim W, van Lenthe H, IJlst L, Ebberink MS, Wanders RJA, Vaz FM, Waterham HR.   +10 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, Kluijtmans, L.A.J., Morava, E.   +2 more
openaire   +3 more sources

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, Rao, Jiao, Li, Yu-fen, Zhang, Zhi-wei, Zeng, Guo-hong   +4 more
openaire   +2 more sources