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Items: 1 to 20 of 244

1.
Metabolomic Profiling of Mice with Tacrolimus-Induced Nephrotoxicity: Carnitine Deficiency in Renal Tissue
Sho Nishida, Tamaki Ishima, Natsuka Kimura, Daiki Iwami, Ryozo Nagai, Yasushi Imai, Kenichi Aizawa
Biomedicines. 2024 Mar; 12(3): 521. Published online 2024 Feb 26. doi: 10.3390/biomedicines12030521
PMCID:
PMC10968022
ArticlePDF–2.7M
2.
Research on the Clinical Practical Use of Pivoxil-Conjugated Antibodies and the Risk of Carnitine Deficiency Using Real-World Data
Kaho Suzuki-Yoshida, Kosuke Nakano, Masayoshi Nakakuni, Naoko Deguchi, Seiji Mitsui, Shinji Kobayashi, Akimasa Yamatani, Miki Akabane
Children (Basel) 2024 Feb; 11(2): 150. Published online 2024 Jan 24. doi: 10.3390/children11020150
PMCID:
PMC10887142
ArticlePDF–534K
3.
Secondary Carnitine Deficiency in Neonates and Infants Requiring Surgery for Intestinal Obstructions—An Underestimated and Undermanaged Problem
Sheng-Yang Huang, Chia-Man Chou, Hou-Chuan Chen
Children (Basel) 2024 Feb; 11(2): 147. Published online 2024 Jan 24. doi: 10.3390/children11020147
PMCID:
PMC10887099
ArticlePDF–957K
4.
Carnitine Deficiency in Intensive Care Unit Patients Undergoing Continuous Renal Replacement Therapy: A Single-center Retrospective Study
Marina Oi, Takaaki Maruhashi, Yasushi Asari
JMA J. 2024 Jan 15; 7(1): 70–76. Published online 2023 Nov 16. doi: 10.31662/jmaj.2023-0112
PMCID:
PMC10834172
ArticlePDF–1.9M
5.
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features
Amir Ghaffari Jolfayi, Niloofar Naderi, Serwa Ghasemi, Alireza Salmanipour, Sara Adimi, Majid Maleki, Samira Kalayinia
BMC Cardiovasc Disord. 2024; 24: 1. Published online 2024 Jan 2. doi: 10.1186/s12872-023-03676-z
PMCID:
PMC10763261
ArticlePDF–1.6M
6.
Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening
Xiaoshan Ji, Yanzhuang Ge, Qi Ni, Suhua Xu, Zhongmeng Xiong, Lin Yang, Liyuan Hu, Yun Cao, Yulan Lu, Qiufen Wei, Wenqing Kang, Deyi Zhuang, Wenhao Zhou, Xinran Dong
Front Genet. 2023; 14: 1304458. Published online 2023 Dec 6. doi: 10.3389/fgene.2023.1304458
PMCID:
PMC10730660
ArticlePDF–2.0M
7.
Nocturnal Leg Cramping Caused by Carnitine Deficiency Due to Long-Term Pivalate Antibiotics Administration in a Patient With Chronic Kidney Disease
Ryutaro Tanizaki, Yayoi Miyamatsu
Cureus. 2023 Nov; 15(11): e48927. Published online 2023 Nov 16. doi: 10.7759/cureus.48927
PMCID:
PMC10725522
ArticlePDF–157K
8.
Newborn screening for primary carnitine deficiency: who will benefit? – a retrospective cohort study
Loek Crefcoeur, Sacha Ferdinandusse, Saskia N van der Crabben, Eugènie Dekkers, Sabine A Fuchs, Hidde Huidekoper, Mirian Janssen, Janneke Langendonk, Rose Maase, Monique de Sain, Estela Rubio, Francjan J van Spronsen, Frédéric Maxime Vaz, Rendelien Verschoof, Maaike de Vries, Frits Wijburg, Gepke Visser, Mirjam Langeveld
J Med Genet. 2023 Dec; 60(12): 1177–1185. Published online 2023 Jul 24. doi: 10.1136/jmg-2023-109206
PMCID:
PMC10715524
ArticlePDF–603K
9.
Human model of primary carnitine deficiency cardiomyopathy reveals ferroptosis as a novel mechanism
Malte Loos, Birgit Klampe, Thomas Schulze, Xiaoke Yin, Konstantinos Theofilatos, Bärbel Maria Ulmer, Carl Schulz, Charlotta S. Behrens, Tessa Diana van Bergen, Eleonora Adami, Henrike Maatz, Michaela Schweizer, Susanne Brodesser, Boris V. Skryabin, Timofey S. Rozhdestvensky, Sara Bodbin, Konstantina Stathopoulou, Torsten Christ, Chris Denning, Norbert Hübner, Manuel Mayr, Friederike Cuello, Thomas Eschenhagen, Arne Hansen
Stem Cell Reports. 2023 Nov 14; 18(11): 2123–2137. Published online 2023 Oct 5. doi: 10.1016/j.stemcr.2023.09.002
PMCID:
PMC10679537
ArticlePDF–4.4M
10.
Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency
Oliver P. Hanington, Catherine Armstrong, Germaine Pierre, Graham Stuart, Jules C. Hancox
Ann Noninvasive Electrocardiol. 2023 Nov; 28(6): e13077. Published online 2023 Sep 1. doi: 10.1111/anec.13077
PMCID:
PMC10646383
ArticlePDF–1.5M
11.
Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands
Rannvá K. Abrahamsen, Allan M. Lund, Jan Rasmussen
JIMD Rep. 2023 Nov; 64(6): 453–459. Published online 2023 Sep 11. doi: 10.1002/jmd2.12383
PMCID:
PMC10623095
ArticlePDF–864K
12.
General anesthesia with cisatracurium and sevoflurane for a patient with primary carnitine deficiency receiving L-carnitine therapy: A case report
Ling Ai, Yan Fang
Medicine (Baltimore) 2021 Sep 24; 100(38): e27333. Published online 2021 Sep 24. doi: 10.1097/MD.0000000000027333
PMCID:
PMC10545311
ArticlePDF–724K
13.
Broadening the Spectrum of SLC22A5 Phenotype: Primary Carnitine Deficiency Presenting with Focal Myoclonus
Maymunah Khries, Albert Lim, Dipayan Mitra, Mark Anderson, Jan Bengtsson, Ann Bowron, Elizabeth Harris, Jessica Blickwedel, Karen Wood, Anna P. Basu
Child Neurol Open. 2023 Jan-Dec; 10: 2329048X231184183. Published online 2023 Jul 17. doi: 10.1177/2329048X231184183
PMCID:
PMC10354736
ArticlePDF–366K
14.
Disorders of Consciousness after Subacute Stroke Might Partly be Caused by Carnitine Deficiency: Two Case Reports
Makoto Ueno, Seiji Miura, Rintaro Ohama, Megumi Shimodozono
Prog Rehabil Med. 2023; 8: 20230019. Published online 2023 Jun 29. doi: 10.2490/prm.20230019
PMCID:
PMC10307532
ArticlePDF–1.3M
15.
A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child
Lieke M. van den Heuvel, Adriana Kater-Kuipers, Tessa van Dijk, Loek L. Crefcoeur, Gepke Visser, Mirjam Langeveld, Lidewij Henneman
Orphanet J Rare Dis. 2023; 18: 134. Published online 2023 Jun 2. doi: 10.1186/s13023-023-02735-0
PMCID:
PMC10236393
ArticlePDF–895K
16.
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France
Charles R. Lefèvre, François Labarthe, Diane Dufour, Caroline Moreau, Marie Faoucher, Paul Rollier, Jean-Baptiste Arnoux, Marine Tardieu, Léna Damaj, Claude Bendavid, Anne-Frédérique Dessein, Cécile Acquaviva-Bourdain, David Cheillan
Int J Neonatal Screen. 2023 Mar; 9(1): 6. Published online 2023 Feb 1. doi: 10.3390/ijns9010006
PMCID:
PMC9944086
ArticlePDF–1.3M
17.
Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns
Loek L. Crefcoeur, M. Rebecca Heiner‐Fokkema, Rose E. Maase, Gepke Visser, Monique G. M. de Sain‐van der Velden
JIMD Rep. 2023 Jan; 64(1): 57–64. Published online 2022 Sep 16. doi: 10.1002/jmd2.12334
PMCID:
PMC9830017
ArticlePDF–1.8M
18.
Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation
Lebreton Louis, Gaschignard Margaux, Guibet Claire, Lamireau Delphine, Roche Sandrine, Richard Emmanuel, Ged Cécile, Mesli Samir, Redonnet‐Vernhet Isabelle
JIMD Rep. 2023 Jan; 64(1): 35–41. Published online 2022 Nov 9. doi: 10.1002/jmd2.12346
PMCID:
PMC9830015
ArticlePDF–1.1M
19.
Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China
Siyu Chang, Yi Yang, Feng Xu, Wenjun Ji, Xia Zhan, Xiaolan Gao, Ting Chen, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Deyun Lu, Kaichuang Zhang, Xuefan Gu, Lianshu Han
Front Genet. 2022; 13: 1062715. Published online 2022 Dec 8. doi: 10.3389/fgene.2022.1062715
PMCID:
PMC9772520
ArticlePDF–724K
20.
Primary carnitine deficiency is a life‐long disease
Loek L. Crefcoeur, Mireille C. Melles, Tobias A. Bruning, Rob Rodrigues Pereira, Janneke G. Langendonk
JIMD Rep. 2022 Nov; 63(6): 524–528. Published online 2022 Jul 27. doi: 10.1002/jmd2.12319
PMCID:
PMC9626665
ArticlePDF–684K

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