Works matching Carnitine deficiency

Results: 679

A Case of Early Diagnosed Carnitine Deficiency Presenting with Respiratory Symptoms.

Published in:

Annals of Nutrition & Metabolism, 2007, v. 51, n. 4, p. 331, doi. 10.1159/000107675

By:

Erguven, Muferet;
Yilmaz, Oznur;
Koc, Seher;
Caki, Suar;
Ayhan, Yusuf;
Donmez, Metin;
Dolunay, Gulderen

Publication type:

Article

A Moderate Carnitine Deficiency Exacerbates Isoproterenol-Induced Myocardial Injury in Rats.

Published in:

Cardiovascular Drugs & Therapy, 2016, v. 30, n. 2, p. 119, doi. 10.1007/s10557-016-6647-4

By:

Giudice, Pietro;
Bonomini, Mario;
Arduini, Arduino

Publication type:

Article

Carnitine deficiency: a possible risk factor in paracetamol hepatotoxicity.

Published in:

Archives of Toxicology, 2009, v. 83, n. 2, p. 139, doi. 10.1007/s00204-008-0330-x

By:

Arafa, Hossam M. M.

Publication type:

Article

Absolute and Relative Carnitine Deficiency in Patients on Hemodialysis and Peritoneal Dialysis.

Published in:

2016

By:

Naseri, Mitra;
Moghadam Shahri, Hasan Mottaghi;
Horri, Mohsen;
Esmaeeli, Mohammad;
Sherbaf, Fatemeh Ghaneh;
Jahanshahi, Shohre;
Moeenolroayaa, Giti;
Rasoli, Zahra;
Salemian, Farzaneh;
Hasan, Maryam Pour;
Mottaghi Moghadam Shahri, Hasan;
Ghaneh Sherbaf, Fatemeh;
Pour Hasan, Maryam

Publication type:

journal article

MRI Findings in Encephalopathy with Primary Carnitine Deficiency: A Case Report.

Published in:

Journal of Neuroimaging, 2015, v. 25, n. 2, p. 325, doi. 10.1111/jon.12102

By:

Yilmaz, Temel Fatih;
Atay, Musa;
Toprak, Huseyin;
Guler, Serhat;
Aralasmak, Ayse;
Alkan, Alpay

Publication type:

Article

Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.

Published in:

International Journal of Molecular Sciences, 2017, v. 18, n. 1, p. 82, doi. 10.3390/ijms18010082

By:

Lehmann, Diana;
Motlagh, Leila;
Robaa, Dina;
Zierz, Stephan

Publication type:

Article

Carnitine Deficiency Aggravates Cyclophosphamide-Induced Cardiotoxicity in Rats.

Published in:

Chemotherapy (0009-3157), 2010, v. 56, n. 1, p. 71, doi. 10.1159/000298822

By:

Fatani, Amal G.;
Darweesh, Amal Q.;
Rizwan, Lubna;
Aleisa, Abdulaziz M.;
Al-Shabanah, Othman A.;
Sayed-Ahmed, Mohamed M.

Publication type:

Article

Short-term carnitine deficiency does not alter aerobic rat heart function but depresses reperfusion recovery after ischemia.

Published in:

Canadian Journal of Physiology & Pharmacology, 2001, v. 79, n. 10, p. 892, doi. 10.1139/y01-051

By:

Broderick, Tom L;
Cifuentes, Jenny;
Green, Denise;
Paulson, Dennis J

Publication type:

Article

Impaired Exercise Performance and Skeletal Muscle Mitochondrial Function in Rats with Secondary Carnitine Deficiency.

Published in:

Frontiers in Physiology, 2016, p. 1, doi. 10.3389/fphys.2016.00345

By:

Bouitbir, Jamal;
Haegler, Patrizia;
Singh, François;
Joerin, Lorenz;
Felser, Andrea;
Duthaler, Urs;
Krähenbühl, Stephan

Publication type:

Article

A case of atypical systemic primary carnitine deficiency in Saudi Arabia.

Published in:

2018

By:

Alghamdi, Abdulrahman;
Almalki, Hani;
Shawli, Aiman;
Waggass, Rahaf;
Hakami, Fahad

Publication type:

Case Study

Carnitine deficiency presenting with a decreased mental state in a patient with amyotrophic lateral sclerosis receiving long-term tube feeding: a case report.

Published in:

2013

By:

Naohi Isse;
Yoh Miura;
Toshiyuki Obata;
Noriko Takahara

Publication type:

Case Study

Successful perioperative management of a patient with primary systemic carnitine deficiency: a case report.

Published in:

2013

By:

Kato, Karin;
Mizota, Toshiyuki;
Hirota, Kiichi;
Fukuda, Kazuhiko

Publication type:

Letter

Neonatal Arrhythmias Due to Deficiency of Carnitine Palmitoyltransferase II.

Published in:

2015

By:

Casadei, Annachiara;
Biasini, Augusto;
Cuna, Chiara Dalla;
Mancini, Luciano;
Sensi, Alberto

Publication type:

Case Study

Acquired encephalopathy associated with carnitine deficiency after cefditoren pivoxil administration.

Published in:

Neurological Sciences, 2012, v. 33, n. 6, p. 1393, doi. 10.1007/s10072-012-0939-7

By:

Kim, Heyun;
Chu, Kon;
Jung, Keun-Hwa;
Lee, Soon-Tae;
Kim, Jeong-Min;
Lee, Sang

Publication type:

Article

Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.

Published in:

Journal of Genetics, 2015, v. 94, n. 1, p. 147, doi. 10.1007/s12041-015-0486-0

By:

TOSHIAKI HITOMI;
NORIO MATSUURA;
YOSUKE SHIGEMATSU;
YOSHIYUKI OKANO;
ERI SHINOZAKI;
MASAHIKO KAWAI;
HATASU KOBAYASHI;
HARADA, KOUJI H.;
AKIO KOIZUMI

Publication type:

Article

Effect of Carnitine Deprivation on Carnitine Homeostasis and Energy Metabolism in Mice with Systemic Carnitine Deficiency.

Published in:

Annals of Nutrition & Metabolism, 2008, v. 52, n. 2, p. 136, doi. 10.1159/000127390

By:

Knapp, Andrea Caroline;
Todesco, Liliane;
Török, Michael;
Beier, Konstantin;
Krähenbühl, Stephan

Publication type:

Article

A cross-sectional study of carnitine deficiency and fatigue in pediatric cancer patients.

Published in:

Child's Nervous System, 2016, v. 32, n. 3, p. 475, doi. 10.1007/s00381-015-2983-0

By:

Lai, Jin-Shei;
Haertling, Tracy;
Weinstein, Joanna;
Rademaker, Alfred;
Goldman, Stewart

Publication type:

Article

Primary Carnitine Deficiency and Sudden Death: In vivo Evidence of Myocardial Lipid Peroxidation and Sulfonylation of Sarcoendoplasmic Reticulum Calcium ATPase 2.

Published in:

Cardiology, 2011, v. 120, n. 1, p. 52, doi. 10.1159/000333127

By:

Mazzini, M.;
Tadros, T.;
Siwik, D.;
Joseph, L.;
Bristow, M.;
Qin, F.;
Cohen, R.;
Monahan, K.;
Klein, M.;
Colucci, W.

Publication type:

Article

Cardiac Magnetic Resonance Findings in a Case of Carnitine Deficiency.

Published in:

Texas Heart Institute Journal, 2013, v. 40, n. 1, p. 104

By:

Ascunce, Rebecca Rudominer;
Nayar, Ambika C.;
Phoon, Colin K. L.;
Srichai, Monvadi B.

Publication type:

Article

Carnitine Palmitoy Itransferase 2 Deficiency: The Time-Course of Blood and Urinary Acylcarnitine Levels during Initial L-Carnitine Supplementation.

Published in:

Tohoku Journal of Experimental Medicine, 2010, v. 221, n. 3, p. 191, doi. 10.1620/tjem.221.191

By:

Hori, Tomohiro;
Fukao, Toshiyuki;
Kobayashi, Hironori;
Teramoto, Takahide;
Takayanagi, Masaki;
Hasegawa, Yuki;
Yasuno, Tetsuhiko;
Yamaguchi, Seiji;
Kondo, Naomi

Publication type:

Article

Primary carnitine deficiency as a cause of metabolic leukoencephalopathy: Report of one case.

Published in:

2016

By:

Mahale, Rohan R.;
Mehta, Anish;
Timmappaya, A.;
Srinivasa, Rangasetty

Publication type:

journal article

Incidence of carnitine deficiency in patients with cancer pain: A pilot study.

Published in:

Molecular & Clinical Oncology, 2017, v. 6, n. 3, p. 331, doi. 10.3892/mco.2017.1159

By:

KIYOHIRO SAKAI;
HIROMICHI MATSUOKA;
YOICHI OHTAKE;
CHIHIRO MAKIMURA;
HIROAKI IZUMI;
YOSHIHIKO FUJITA;
MASATOMO OTSUKA;
JUNJI TSURUTANI;
KAZUTO NISHIO;
KAZUHIKO NAKAGAWA;
ATSUKO KOYAMA

Publication type:

Article

Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis.

Published in:

BioEssays, 2017, v. 39, n. 8, p. n/a, doi. 10.1002/bies.201700012

By:

Beaudet, Arthur L.

Publication type:

Article

COMPARACIÓN DE DOS TÉCNICAS COMO HERRAMIENTA DIAGNÓSTICA DE LA DEFICIENCIA DE CARNITINA ACILCARNITINA TRANSLOCASA.

Published in:

Biosalud, 2012, v. 11, n. 1, p. 17

By:

Osorio, José Henry

Publication type:

Article

Carnitine Deficiency and Pregnancy.

Published in:

Case Reports in Obstetrics & Gynecology, 2015, v. 2015, p. 1, doi. 10.1155/2015/101468

By:

de Bruyn, Anouk;
Jacquemyn, Yves;
Kinget, Kristof;
Eyskens, François

Publication type:

Article

Carnitine Deficiency in Chinese Children with Epilepsy on Valproate Monotherapy.

Published in:

Indian Pediatrics, 2018, v. 55, n. 3, p. 222, doi. 10.1007/s13312-018-1322-4

By:

LI QILIANG;
SONG WENQI;
JIN HONG

Publication type:

Article

Carnitine Deficiency Disorders in Children.

Published in:

Annals of the New York Academy of Sciences, 2004, v. 1033, n. 1, p. 42, doi. 10.1196/annals.1320.004

By:

STANLEY, CHARLES A.

Publication type:

Article

Carnitine Deficiency Provokes Cisplatin-Induced Hepatotoxicity in Rats.

Published in:

Basic & Clinical Pharmacology & Toxicology, 2007, v. 100, n. 3, p. 145, doi. 10.1111/j.1742-7843.2006.00024.x

By:

Al-Majed, Abdulhakeem A.

Publication type:

Article

"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child.

Published in:

2001

By:

Gempel, Klaus;
von Praun, Caroline;
Baumkötter, Jochen;
Lehnert, Willy;
Ensenauer, Regina;
Gerbitz, Klaus-Dieter;
Bauer, Matthias F.;
Gempel, K;
von Praun, C;
Baumkötter, J;
Lehnert, W;
Ensenauer, R;
Gerbitz, K D;
Bauer, M F

Publication type:

journal article

Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 1/2, p. 82, doi. 10.1007/PL00013810

By:

Nuoffer, J. -M.;
de Lonlay, P.;
Costa, C.;
Roe, C. R.;
Chamoles, N.;
Brivet, M.;
Saudubray, J. M.

Publication type:

Article

Genomic organization and mapping of mouse CDV (carnitine deficiency-associated gene expressed in ventricle)-1 and its related CDV-1R gene.

Published in:

Mammalian Genome, 2000, v. 11, n. 12, p. 1053, doi. 10.1007/s003350010207

By:

Higashi, Mikiko;
Kobayashi, Keiko;
Iijima, Mikio;
Wakana, Shigeharu;
Horiuchi, Masahisa;
Yasuda, Tomotsugu;
Yoshida, Goichiro;
Kanmura, Yuichi;
Saheki, Takeyori

Publication type:

Article

Carnitine deficiency presenting with encephalopathy and hyperammonemia in a patient receiving chronic enteral tube feeding: a case report.

Published in:

2012

By:

Ling, Peter;
Lee, Douglas J;
Yoshida, Eric M;
Sirrs, Sandra

Publication type:

journal article

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 68, doi. 10.1186/1750-1172-7-68

By:

Magoulas, Pilar L;
El-Hattab, Ayman W

Publication type:

Article

Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy.

Published in:

Case Reports in Cardiology, 2018, p. 1, doi. 10.1155/2018/3232105

By:

Tomlinson, Stephen;
Atherton, John;
Prasad, Sandhir

Publication type:

Article

Primary carnitine deficiency presenting as intractable seizures.

Published in:

Neurology India, 2015, v. 63, n. 2, p. 272, doi. 10.4103/0028-3886.156308

By:

Kumar, Pancham;
Chauhan, Lokesh;
Vohra, Rohit;
Garg, Ashok

Publication type:

Article

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.

Published in:

Nature Genetics, 1999, v. 21, n. 1, p. 91, doi. 10.1038/5030

By:

Nezu, Jun-ichi;
Tamai, Ikumi;
Oku, Asuka;
Ohashi, Rikiya;
Yabuuchi, Hikaru;
Hashimoto, Noriyoshi;
Nikaido, Hiroko;
Sai, Yoshimichi;
Koizumi, Akio;
Shoji, Yutaka;
Takada, Goro;
Matsuishi, Toyojiro;
Yoshino, Makoto;
Kato, Hirohisa;
Ohura, Toshihiro;
Tsujimoto, Gozoh;
Hayakawa, Jun-ichiro;
Shimane, Miyuki;
Tsuji, Akira

Publication type:

Article

Long-Term Follow-Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency.

Published in:

Clinical Pharmacology & Therapeutics, 2010, v. 88, n. 1, p. 101, doi. 10.1038/clpt.2010.55

By:

Bonnefont, J. P.;
Bastin, J.;
Laforêt, P.;
Aubey, F.;
Mogenet, A.;
Romano, S.;
Ricquier, D.;
Gobin-Limballe, S.;
Vassault, A.;
Behin, A.;
Eymard, B.;
Bresson, J. L.;
Djouadi, F.

Publication type:

Article

Cardiac function and incidence of unexplained myocardial scarring in patients with primary carnitine deficiency - a cardiac magnetic resonance study.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50458-9

By:

Kyhl, Kasper;
Róin, Tóra;
Lund, Allan;
Vejlstrup, Niels;
Madsen, Per Lav;
Engstrøm, Thomas;
Rasmussen, Jan

Publication type:

Article

Gestational diabetes exhibits lack of carnitine deficiency despite relatively low carnitine levels and alterations in ketogenesis.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2005, v. 17, n. 1, p. 63, doi. 10.1080/14767050400028733

By:

Pappa, Kalliopi;
Anagnou, Nicholas;
Salamalekis, Emmanuel;
Bikouvarakis, Stylianos;
Maropoulos, George;
Anogianaki, Nektaria;
Evangeliou, Athanasios;
Koumantakis, Eugene

Publication type:

Article

A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 1, p. 8, doi. 10.1007/s100380300001

By:

Smeets, R. J. P.;
Smeitink, J. A. M.;
Semmekrot, B. A.;
Scholte, H. R.;
Wanders, R. J. A.;
van den Heuvel, L.P.W.J.

Publication type:

Article

Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 127, doi. 10.1111/cge.12112

By:

Shibbani, K.;
Fahed, A.C.;
Al‐Shaar, L.;
Arabi, M.;
Nemer, G.;
Bitar, F.;
Majdalani, M.

Publication type:

Article

Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype–phenotype correlation.

Published in:

2007

By:

Yamak, A. A.;
Bitar, F.;
Karam, P.;
Nemer, G.

Publication type:

Letter

Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency.

Published in:

BJOG: An International Journal of Obstetrics & Gynaecology, 2007, v. 114, n. 8, p. 1028, doi. 10.1111/j.1471-0528.2007.01411.x

By:

Geven, W. B.;
Niezen-Koning, K. E.;
Timmer, A.;
van Loon, A. J.;
Wanders, R. J. A.;
van Spronsen, F. J.

Publication type:

Article

Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2247, doi. 10.1093/hmg/8.12.2247

By:

Koizumi, Akio;
Nozaki, Jun-ichi;
Ohura, Toshihiro;
Kayo, Tsuyoshi;
Wada, Yasuhiko;
Nezu, Jun-ichi;
Ohashi, Rikiya;
Tamai, Ikumi;
Shoji, Yutaka;
Takada, Goro;
Kibira, Satoshi;
Matsuishi, Toyojiro;
Tsuji, Akira

Publication type:

Article

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 4, p. 655, doi. 10.1093/hmg/8.4.655

By:

Tang, Nelson L. S.;
Ganapathy, V.;
Wu, Xiang;
Hui, Joannie;
Seth, Pankaj;
Yuen, Patrick M. P.;
Fok, T. F.;
Hjelm, N. M.

Publication type:

Article

Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency.

Published in:

Pediatric Gastroenterology, Hepatology & Nutrition, 2016, v. 19, n. 1, p. 76, doi. 10.5223/pghn.2016.19.1.76

By:

Jong Sub Choi;
Hyeoh Won Yoo;
Kyung Jae Lee;
Jung Min Ko;
Jin Soo Moon;
Jae Sung Ko

Publication type:

Article

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-102

By:

Couce, Maria Luz;
Sánchez-Pintos, Paula;
Diogo, Luisa;
Leão-Teles, Elisa;
Martins, Esmeralda;
Santos, Helena;
Bueno, Maria Amor;
Delgado-Pecellín, Carmen;
Castiñeiras, Daisy E.;
Cocho, José A.;
García-Villoria, Judit;
Ribes, Antonia;
Fraga, José M.;
Rocha, Hugo

Publication type:

Article

Myocardial function and energy metabolism in carnitine-deficient rats.

Published in:

Cellular & Molecular Life Sciences, 2003, v. 60, n. 4, p. 767, doi. 10.1007/s00018-003-3011-1

By:

Zaugg, C. E.;
Spaniol, M.;
Kauffmann, P.;
Bellahcene, M.;
Barbosa, V.;
Tolnay, M.;
Buser, P. T.;
Krähenbühl, S.

Publication type:

Article

Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 2, p. 1, doi. 10.1002/mgg3.1583

By:

Chen, Yao;
Lin, Qingying;
Zeng, Yinglin;
Qiu, Xiaolong;
Liu, Guanghua;
Zhu, Wenbin

Publication type:

Article

Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 9/10, p. 1179, doi. 10.1515/jpem-2014-0528

By:

Yilmaz, Berna Seker;
Kor, Deniz;
Mungan, Neslihan Onenli;
Erdem, Sevcan;
Ceylaner, Serdar

Publication type:

Article