167 related articles for article (PubMed ID: 37305732)
1. 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]
2. Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Tajima G; Hara K; Tsumura M; Kagawa R; Okada S; Sakura N; Maruyama S; Noguchi A; Awaya T; Ishige M; Ishige N; Musha I; Ajihara S; Ohtake A; Naito E; Hamada Y; Kono T; Asada T; Sasai H; Fukao T; Fujiki R; Ohara O; Bo R; Yamada K; Kobayashi H; Hasegawa Y; Yamaguchi S; Takayanagi M; Hata I; Shigematsu Y; Kobayashi M
Mol Genet Metab; 2017 Nov; 122(3):67-75. PubMed ID: 28801073
[TBL] [Abstract][Full Text] [Related]
3. Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China.
Zhou D; Cheng Y; Yin X; Miao H; Hu Z; Yang J; Zhang Y; Wu B; Huang X
Front Genet; 2022; 13():823687. PubMed ID: 35360862
[No Abstract] [Full Text] [Related]
4. Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.
Tajima G; Hara K; Tsumura M; Kagawa R; Sakura F; Sasai H; Yuasa M; Shigematsu Y; Okada S
Int J Neonatal Screen; 2023 Oct; 9(4):. PubMed ID: 37987475
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. [Newborn screening for primary carnitine deficiency and variant spectrum of SLC22A5 gene in Guangzhou].
Huang YL; Tang CF; Liu SC; Sheng HY; Tang F; Jiang X; Zheng RD; Mei HF; Liu L
Zhonghua Er Ke Za Zhi; 2020 Jun; 58(6):476-481. PubMed ID: 32521959
[No Abstract] [Full Text] [Related]
10. 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]
11. 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]
12. Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles.
Heiner-Fokkema MR; Vaz FM; Maatman R; Kluijtmans LA; van Spronsen FJ; Reijngoud DJ
JIMD Rep; 2017; 32():33-39. PubMed ID: 27295194
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Impaired acylcarnitine profile in transfusion-dependent beta-thalassemia major patients in Bangladesh.
Kumar Sarker S; Islam MT; Sarower Bhuyan G; Sultana N; Begum MN; Al Mahmud-Un-Nabi M; Al Noman Howladar MA; Farhana Dipta T; Muraduzzaman AKM; Kashfi Qadri S; Shirin T; Sadiya S; Hussain M; Ahmed Khan W; Akhteruzzaman S; Saleheen Qadri S; Qadri F; Mannoor K
J Adv Res; 2018 Jul; 12():55-66. PubMed ID: 30046479
[TBL] [Abstract][Full Text] [Related]
15. One potential hotspot
Li X; Shen J
Front Pediatr; 2022; 10():1029004. PubMed ID: 36419912
[TBL] [Abstract][Full Text] [Related]
16. Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.
Tajima G; Aisaki J; Hara K; Tsumura M; Kagawa R; Sakura F; Sasai H; Yuasa M; Shigematsu Y; Okada S
Int J Neonatal Screen; 2024 Feb; 10(1):. PubMed ID: 38390979
[TBL] [Abstract][Full Text] [Related]
17. Similarities between acylcarnitine profiles in large for gestational age newborns and obesity.
Sánchez-Pintos P; de Castro MJ; Roca I; Rite S; López M; Couce ML
Sci Rep; 2017 Nov; 7(1):16267. PubMed ID: 29176728
[TBL] [Abstract][Full Text] [Related]
18. Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
Wood JC; Magera MJ; Rinaldo P; Seashore MR; Strauss AW; Friedman A
Pediatrics; 2001 Jul; 108(1):E19. PubMed ID: 11433098
[TBL] [Abstract][Full Text] [Related]
19. Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.
Illsinger S; Lücke T; Peter M; Ruiter JP; Wanders RJ; Deschauer M; Handig I; Wuyts W; Das AM
Am J Med Genet A; 2008 Nov; 146A(22):2925-8. PubMed ID: 18925671
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
