151 related articles for article (PubMed ID: 37020897)
1. Dataset from dried blood spot acylcarnitine for detection of Carnitine-Acylcarnitine Translocase (CACT) deficiency and Carnitine Palmitoyl Transferase 2 (CPT2) deficiency.
Habib A; Nazri MIBA; Rahman SA
Data Brief; 2023 Jun; 48():109090. PubMed ID: 37020897
[TBL] [Abstract][Full Text] [Related]
2. Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
Habib A; Azize NAA; Rahman SA; Yakob Y; Suberamaniam V; Nazri MIBA; Abdullah Sani H; Ch'ng GS; Yin LH; Olpin S; Lock-Hock N
Clin Biochem; 2021 Dec; 98():48-53. PubMed ID: 34626609
[TBL] [Abstract][Full Text] [Related]
3. Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism.
van Rijt WJ; Schielen PCJI; Özer Y; Bijsterveld K; van der Sluijs FH; Derks TGJ; Heiner-Fokkema MR
Int J Neonatal Screen; 2020 Nov; 6(4):. PubMed ID: 33147805
[TBL] [Abstract][Full Text] [Related]
4. Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity.
Shi C; Ao Z; Liu B; Xiao X; Gu X; Yang Q; Hao H; Cai Y; Li S
Transl Pediatr; 2023 May; 12(5):871-881. PubMed ID: 37305732
[TBL] [Abstract][Full Text] [Related]
5. Differences between acylcarnitine profiles in plasma and bloodspots.
de Sain-van der Velden MG; Diekman EF; Jans JJ; van der Ham M; Prinsen BH; Visser G; Verhoeven-Duif NM
Mol Genet Metab; 2013; 110(1-2):116-21. PubMed ID: 23639448
[TBL] [Abstract][Full Text] [Related]
6. Blood carnitine profiling on tandem mass spectrometry in liver cirrhotic patients.
Miyaaki H; Kobayashi H; Miuma S; Fukusima M; Sasaki R; Haraguchi M; Nakao K
BMC Gastroenterol; 2020 Feb; 20(1):41. PubMed ID: 32075591
[TBL] [Abstract][Full Text] [Related]
7. Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.
Janzen N; Hofmann AD; Schmidt G; Das AM; Illsinger S
Orphanet J Rare Dis; 2017 Dec; 12(1):187. PubMed ID: 29268767
[TBL] [Abstract][Full Text] [Related]
8. Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC-MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis.
Forni S; Fu X; Palmer SE; Sweetman L
Mol Genet Metab; 2010 Sep; 101(1):25-32. PubMed ID: 20591710
[TBL] [Abstract][Full Text] [Related]
9. Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.
Vatanavicharn N; Yamada K; Aoyama Y; Fukao T; Densupsoontorn N; Jirapinyo P; Sathienkijkanchai A; Yamaguchi S; Wasant P
Brain Dev; 2015 Aug; 37(7):698-703. PubMed ID: 25459972
[TBL] [Abstract][Full Text] [Related]
10. Measurement of free carnitine and acylcarnitines in plasma by HILIC-ESI-MS/MS without derivatization.
Peng M; Liu L; Jiang M; Liang C; Zhao X; Cai Y; Sheng H; Ou Z; Luo H
J Chromatogr B Analyt Technol Biomed Life Sci; 2013 Aug; 932():12-8. PubMed ID: 23816563
[TBL] [Abstract][Full Text] [Related]
11. Postnatal variations in blood free and acylcarnitines.
De T; Kruthika-Vinod TP; Nagaraja D; Christopher R
J Clin Lab Anal; 2011; 25(2):126-9. PubMed ID: 21438006
[TBL] [Abstract][Full Text] [Related]
12. Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.
Fukushima T; Kaneoka H; Yasuno T; Sasaguri Y; Tokuyasu T; Tokoro K; Fukao T; Saito T
J Hum Genet; 2013 Dec; 58(12):788-93. PubMed ID: 24088670
[TBL] [Abstract][Full Text] [Related]
13. Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress.
van Rijt WJ; van der Ende RM; Volker-Touw CML; van Spronsen F; Derks TGJ; Heiner-Fokkema MR
Mol Genet Metab; 2019 Aug; 127(4):327-335. PubMed ID: 31279622
[TBL] [Abstract][Full Text] [Related]
14. Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient.
Violante S; Ijlst L; Te Brinke H; Koster J; Tavares de Almeida I; Wanders RJ; Ventura FV; Houten SM
Biochim Biophys Acta; 2013 Sep; 1831(9):1467-74. PubMed ID: 23850792
[TBL] [Abstract][Full Text] [Related]
15. Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.
Rubio-Gozalbo ME; Bakker JA; Waterham HR; Wanders RJ
Mol Aspects Med; 2004; 25(5-6):521-32. PubMed ID: 15363639
[TBL] [Abstract][Full Text] [Related]
16. Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids.
Yuasa M; Hata I; Sugihara K; Isozaki Y; Ohshima Y; Hara K; Tajima G; Shigematsu Y
Dis Markers; 2019; 2019():2984747. PubMed ID: 30881520
[TBL] [Abstract][Full Text] [Related]
17. Screening of Free Carnitine and Acylcarnitine Status in Children With Familial Mediterranean Fever.
Kiykim E; Aktuğlu Zeybek AÇ; Barut K; Zübarioğlu T; Cansever MŞ; Alsancak Ş; Kasapçopur Ö
Arch Rheumatol; 2016 Jun; 31(2):133-138. PubMed ID: 29900937
[TBL] [Abstract][Full Text] [Related]
18. Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency.
Fontaine M; Briand G; Largillière C; Degand P; Divry P; Vianey-Saban C; Mousson B; Vamecq J
Clin Chim Acta; 1998 May; 273(2):161-70. PubMed ID: 9657346
[TBL] [Abstract][Full Text] [Related]
19. [Analysis of a child with carnitine palmitoyl transferase 1A deficiency due to variant of CPT1A gene].
Zhou Z; Yang L; Liao H; Ning Z; Chen B; Jiang Z; Yang S; Wang M; Xiao Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb; 38(2):184-187. PubMed ID: 33565078
[TBL] [Abstract][Full Text] [Related]
20. Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.
Iacobazzi V; Pasquali M; Singh R; Matern D; Rinaldo P; Amat di San Filippo C; Palmieri F; Longo N
Am J Med Genet A; 2004 Apr; 126A(2):150-5. PubMed ID: 15057979
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
