Works matching DE "CARNITINE deficiency"

Results: 117

Age-associated cardiomyopathy in heterozygous carrier mice of a pathological mutation of carnitine transporter gene, OCTN2.

Published in:

2002

By:

Xiaofei E;
Wada, Yasuhiko;
Dakeishi, Miwako;
Hirasawa, Fujiko;
Murata, Katsuyuki;
Masuda, Hirotake;
Sugiyama, Toshihiro;
Nikaido, Hiroko;
Koizumi, Akio;
Xiaofei, E

Publication type:

journal article

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

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

Serum Carnitine Levels During Oxcarbazepine and Carbamazepine Monotherapies in Children With Epilepsy.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 8, p. 552, doi. 10.1177/08830738030180080201

By:

Kurul, Semra;
Dirik, Eray;
İscan, Akin

Publication type:

Article

Carnitine-Deficient Myopathy as a Presentation of Tyrosinemia Type I.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 9, p. 642, doi. 10.1177/088307380101600903

By:

Nissenkorn, Andrea;
Korman, Stanley H.;
Vardi, Orna;
Levine, Arie;
Katzir, Zeev;
Ballin, Ami;
Lerman-Sagie, Tally

Publication type:

Article

Novel Mutation in the CPT II Gene in a Child With Periodic Febrile Myalgia and Myoglobinuria.

Published in:

Journal of Child Neurology, 2000, v. 15, n. 6, p. 390

By:

Bruno, Claudio;
Bado, Massimo;
Minetti, Carlo;
Cordone, Giuseppe;
DiMauro, Salvatore

Publication type:

Article

Liver Disease in Pregnancy Necessitates a Call for the Pediatrician.

Published in:

American Journal of Gastroenterology (Springer Nature), 2000, v. 95, n. 6, p. 1396

By:

Mack, David R.;
Thompson, Jon S.

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

Progression of Cisplatin-Induced Nephrotoxicity in a Carnitine-Depleted Rat Model.

Published in:

Chemotherapy (0009-3157), 2004, v. 50, n. 4, p. 162, doi. 10.1159/000080689

By:

Sayed-Ahmed, Mohamed M.;
Eissa, Maha A.;
Kenawy, Sanaa A.;
Mostafa, Nadia;
Calvani, Menotti;
Osman, Abdel-Moneim M.

Publication type:

Article

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

EFFECT OF IN OVOMETHIONINE, GLUTAMINE, CARNITINE OR BETAINE INJECTION ON HATCHABILITY, GROWTH PERFORMANCE AND PHYSIOLOGICAL STATE.

Published in:

Egyptian Poultry Science Journal, 2017, v. 37, n. 4, p. 1273, doi. 10.21608/epsj.2017.5653

By:

Youssef, S. F.;
Abd El-Halim, H. A. H.;
Wahba, Fatma A.;
Abd El-Maged, Marwa H.

Publication type:

Article

Effects of L-carnitine supplementation on respiratory distress syndrome development and prognosis in premature infants: A single blind randomized controlled trial.

Published in:

Experimental & Therapeutic Medicine, 2016, v. 11, n. 3, p. 1123, doi. 10.3892/etm.2015.2964

By:

OZTURK, MEHMET ADNAN;
KARDAS, ZEHRA;
KARDAS, FATİH;
GUNES, TAMER;
KURTOGLU, SELİM

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

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

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

Pyruvate dehydrogenase kinase 4 mRNA is increased in the hypertrophied ventricles of...

Published in:

Biofactors, 1999, v. 10, n. 2/3, p. 301, doi. 10.1002/biof.5520100232

By:

Horiuchi, Masahisa;
Kobayashi, Keiko

Publication type:

Article

Response to Initial Therapy of Differentiated Thyroid Cancer Predicts the Long-Term Outcome Better than Classical Risk Stratification Systems.

Published in:

International Journal of Endocrinology, 2014, p. 1, doi. 10.1155/2014/591285

By:

Cano-Palomares, Albert;
Castells, Ignasi;
Capel, Ismael;
Bella, Maria Rosa;
Barcons, Santi;
Serrano, Angel;
Guirao, Xavier;
Rigla, Mercedes

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

L-carnitine supplementation as a potential therapy for suspected hyperammonaemic encephalopathy.

Published in:

Journal of the Royal College of Physicians of Edinburgh, 2019, v. 49, n. 4, p. 301, doi. 10.4997/JRCPE.2019.410

By:

Khakwani, Alex;
Gannon, David

Publication type:

Article

Suppressed Expression of the Urea Cycle Enzyme Genes in the Liver of Carnitine-Deficient Juvenile Visceral Steatosis (JVS) Mice in Infancy and during Starvation in Adulthood1.

Published in:

Journal of Biochemistry, 1997, v. 121, n. 1, p. 172, doi. 10.1093/oxfordjournals.jbchem.a021562

By:

Tomomura, Mineko;
Tomomura, Akito;
Musa, Dewan Abdullah Abu;
Horiuchi, Masahisa;
Takiguchi, Masaki;
Mori, Masataka;
Saheki, Takeyori

Publication type:

Article

Increased Expression of Carnitine Palmitoyltransferase I Gene Is Repressed by Administering L-Carnitine in the Hearts of Carnitine-Deficient Juvenile Visceral Steatosis Mice.

Published in:

Journal of Biochemistry, 1996, v. 119, n. 3, p. 533, doi. 10.1093/oxfordjournals.jbchem.a021274

By:

Uenaka, Rikako;
Kuwajima, Masamichi;
Ono, Akira;
Matsuzawa, Yuji;
Hayakawa, Jun-ichiro;
Inohara, Naohiro;
Kagawa, Yasuo;
Ohta, Shigeo

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

Evaluation of carnitine deficit in very low birth weight preterm newborns small for their gestational age.

Published in:

2016

By:

Sánchez-Pintos, Paula;
Pérez-Muñuzuri, Alejandro;
Cocho, Jose Ángel;
Fernández-Lorenzo, Jose Ramón;
Fraga, Jose María;
Couce, Maria L

Publication type:

journal 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

Effect of L-Carnitine and Coenzyme Q10 treatments on immune response, productive and reproductive performance of Damascus goats and their offspring. 1- Effect on quality and chemical composition of milk and Labneh.

Published in:

Egyptian Journal of Sheep & Goats Sciences, 2017, v. 12, n. 2, p. 1, doi. 10.12816/0040197

By:

El-Ghandour, A. A.;
Abou El-Ela, A. A.;
Hafez, Y. H.;
Abdel-Hafez, M. A.

Publication type:

Article

Plasma L-carnitine levels of obese and non-obese polycystic ovary syndrome patients.

Published in:

2017

By:

Celik, Fatih;
Kose, Mesut;
Yilmazer, Mehmet;
Köken, Gülengül N.;
Arioz, Dagistan Tolga;
Kanat Pektas, Mine

Publication type:

journal article

Neuropathology of 3-Hydroxyisobutyric Aciduria, an Autopsy Case Report.

Published in:

2009

By:

Xianyuan Song;
Anderson, Virginia;
Guzman, Miguel;
Rao, Chandrakant

Publication type:

Case Study

Clinical and Biochemical Heterogeneity in an Italian Family with CPT II Deficiency due to Ser 113 Leu Mutation.

Published in:

Canadian Journal of Neurological Sciences, 2005, v. 32, n. 3, p. 316, doi. 10.1017/S0317167100004194

By:

Rafay, Mubeen F.;
Murphy, E. Gordon;
McGarry, J. Denis;
Kaufmann, Petra;
DiMauro, Salvatore;
Tein, Ingrid

Publication type:

Article

Literature Reviews: Genetics.

Published in:

Clinical Pediatrics, 2001, v. 40, n. 10, p. 580

By:

Lampe, John B.;
Schafer, Irwin A.

Publication type:

Article

ACETYL-L-CARNITINE IN DEMENTIA.

Published in:

International Journal of Geriatric Psychiatry, 1991, v. 6, n. 12, p. 853, doi. 10.1002/gps.930061205

By:

Livingston, G. A.;
Sax, K. B.;
McClenahan, Z.;
Blumenthal, E.;
Foley, K.;
Willison, J.;
Mann, A. H.;
James, I. M.

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 Significant Difference in the Blood Carnitine Values Obtained by the Enzymatic Cycling and Tandem Mass Spectrometry Methods.

Published in:

Clinical Laboratory, 2018, v. 64, p. 211, doi. 10.7754/Clin.Lab.2017.170805

By:

Jun Kido;
Hironobu Inoue;
Yosuke Suzuki;
Motoko Tanaka;
Hiroshi Mitsubuchi;
Kimitoshi Nakamura;
Fumio Endo;
Shirou Matsumoto

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

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

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

How Can Erythropoietin Requirements be Reduced in Dialysis Patients?

Published in:

Seminars in Dialysis, 2006, v. 19, n. 5, p. 370, doi. 10.1111/j.1525-139X.2006.00191.x

By:

Berns, Jeffrey S.

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

Poster 170 Acute Rupture of Bilateral Quadriceps in a Young Man With Partial Carnitin Palmityl Transferase Deficiency: A Case Report.

Published in:

PM & R: Journal of Injury, Function & Rehabilitation, 2011, v. 3, n. 10S, p. S228, doi. 10.1016/j.pmrj.2011.08.201

By:

Klisiewicz, Sebastian;
Del Toro, David R.

Publication type:

Article

High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy Lan et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 565, doi. 10.1111/j.1399-0004.2010.01421.x

By:

Lan, M.-Y.;
Fu, M.-H.;
Liu, Y.-F.;
Huang, C.-C.;
Chang, Y.-Y.;
Liu, J.-S.;
Peng, C.-H.;
Shun-Sheng Chen

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

A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient.

Published in:

Clinical Genetics, 2003, v. 64, n. 2, p. 163, doi. 10.1034/j.1399-0004.2003.00117.x

By:

Al Aqeel, A. I;
Rashid, M. S;
Pn Ruiter, J.;
Ijlst, L.;
Ja Wanders, R.

Publication type:

Article

Cellular Stress Responses, Mitostress and Carnitine Insufficiencies as Critical Determinants in Aging and Neurodegenerative Disorders: Role of Hormesis and Vitagenes.

Published in:

Neurochemical Research, 2010, v. 35, n. 12, p. 1880, doi. 10.1007/s11064-010-0307-z

By:

Calabrese, Vittorio;
Cornelius, Carolin;
Stella, Anna;
Calabrese, Edward

Publication type:

Article

High Affinity Carnitine Transporters from OCTN Family in Neural Cells.

Published in:

Neurochemical Research, 2010, v. 35, n. 5, p. 743, doi. 10.1007/s11064-010-0131-5

By:

Januszewicz, Elżbieta;
Bekisz, Marek;
Mozrzymas, Jerzy W.;
Nałęcz, Katarzyna A.

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

Soft skills: essential in the hardest of times.

Published in:

Clinical Teacher, 2017, v. 14, n. 2, p. 152, doi. 10.1111/tct.12612

By:

Hague, Adam;
Weinberg, Daniel;
Akhtar, and Asma

Publication type:

Article

Inflammation and l-carnitine therapy in hemodialysis patients: a review.

Published in:

Clinical & Experimental Nephrology, 2015, v. 19, n. 3, p. 331, doi. 10.1007/s10157-014-1061-3

By:

Khalatbari-Soltani, Saman;
Tabibi, Hadi

Publication type:

Article

Progression of cyclophosphamide-induced acute renal metabolic damage in carnitine-depleted rat model.

Published in:

Clinical & Experimental Nephrology, 2010, v. 14, n. 5, p. 418, doi. 10.1007/s10157-010-0321-0

By:

Sayed-Ahmed, Mohamed M.

Publication type:

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

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