Works matching DE "CARNITINE deficiency"

Results: 117

What is the value of L-carnitine level determination for carnitine supplementation in hemodialysis patients?

Published in:

2013

By:

REUTER, Stephanie E.;
EVANS, Allan M.

Publication type:

Opinion

Carnitine deficiency in children receiving continuous renal replacement therapy.

Published in:

Hemodialysis International, 2016, v. 20, n. 1, p. 63, doi. 10.1111/hdi.12341

By:

Sgambat, Kristen;
Moudgil, Asha

Publication type:

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

Malonic aciduria: long-term follow-up of new patients detected by newborn screening.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1719, doi. 10.1007/s00431-014-2421-4

By:

Baertling, Fabian;
Mayatepek, Ertan;
Thimm, Eva;
Schlune, Andrea;
Kovacevic, Alexander;
Distelmaier, Felix;
Salomons, Gajja;
Meissner, Thomas

Publication type:

Article

Serum carnitine levels in patients with homozygous beta thalassemia: a possible new role for carnitine?

Published in:

2005

By:

Tsagris, Vasileios;
Liapi-Adamidou, Georgia

Publication type:

journal 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

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 does not improve weight loss outcomes in valproate-treated bipolar patients consuming an energy-restricted, low-fat diet.

Published in:

Bipolar Disorders, 2006, v. 8, n. 5, p. 503, doi. 10.1111/j.1399-5618.2006.00345.x

By:

Elmslie, Jane L;
Porter, Richard J;
Joyce, Peter R;
Hunt, Penelope J;
Mann, Jim I

Publication type:

Article

Checks before bolus epidural injection.

Published in:

2010

By:

Wildsmith, J. A. W.

Publication type:

Letter

Lipid resuscitation in a carnitine deficient child following intravascular migration of an epidural catheter.

Published in:

Anaesthesia, 2010, v. 65, n. 2, p. 192, doi. 10.1111/j.1365-2044.2009.06131.x

By:

Wong, G. K.;
Joo, D. T.;
McDonnell, C.

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

Cardio-protective effects of carnitine in streptozotocin-induced diabetic rats.

Published in:

Cardiovascular Diabetology, 2006, v. 5, p. 2, doi. 10.1186/1475-2840-5-2

By:

Malone, John I.;
Cuthbertson, David D.;
Malone, Michael A.;
Schocken, Douglas D.

Publication type:

Article

Association between resistance to erythropoiesis‐stimulating agents and carnitine profile in patients on maintenance haemodialysis.

Published in:

Nephrology, 2018, v. 23, n. 8, p. 737, doi. 10.1111/nep.13079

By:

Kamei, Daigo;
Tsuchiya, Ken;
Nitta, Kosaku;
Akiba, Takashi;
Mineshima, Michio

Publication type:

Article

Levocarnitine administration in multiple sclerosis patients with immunosuppressive therapy-induced fatigue.

Published in:

Multiple Sclerosis (13524585), 2006, v. 12, n. 3, p. 321, doi. 10.1191/135248506ms1275oa

By:

Lebrun, C.;
Alchaar, H.;
Candito, M.;
Bourg, V.;
Chatel, M.

Publication type:

Article

Influenţa stresului acut hipotermic şi prin imobilizare asupra motilităţii şi emotivităţii la şobolanii suplimentaţi cu carnitină.

Published in:

Palestrica of the Third Millennium Civilization & Sport, 2011, v. 12, n. 4, p. 323

By:

Berghian, Alexandra-Cristina;
Tache, Simona;
Moldovan, Remus

Publication type:

Article

OCENA WPŁYWU SUPLEMENTACJI L-KARNITYNY NA MARKERY ZAPALENIA, WSKAŹNIKI STANU ODZYWIENIA ORAZ NA WYDOLNOŚĆ SERCA U CHORYCH Z PRZEWLEKŁĄ CHOROBĄ NEREK LECZONYCH POWTARZANYMI ZABIEGAMI HEMODIALIZY.

Published in:

Problemy Terapii Monitorowanej, 2010, v. 21, n. 4, p. 227

By:

KRYSICKA, ANNA;
SODOLSKA, MAŁGORZATA;
WALCZAK, KONRAD;
WRÓBLEWSKI, KRZYSZTOF;
MOCZULSKI, DARIUSZ

Publication type:

Article

Metabolic profiling of PPARα<sup>-/-</sup> mice reveals defects in carnitine and amino acid homeostasis that are partially reversed by oral carnitine supplementation.

Published in:

FASEB Journal, 2009, v. 23, n. 2, p. 586, doi. 10.1096/fj.08-119420

By:

Makowski, Liza;
Noland, Robert C.;
Koves, Timothy R.;
Weibing Xing;
Ilkayeva, Olga R.;
Muehlbauer, Michael J.;
Stevens, Robert D.;
Muoio, Deborah M.

Publication type:

Article

Experimental colitis: decreased Octn2 and Atb0+ expression in rat colonocytes induces carnitine depletion that is reversible by carnitine-loaded liposomes.

Published in:

FASEB Journal, 2006, v. 20, n. 14, p. 2544, doi. 10.1096/fj.06-5950fje

By:

D'Argenio, Giuseppe;
Calvani, Menotti;
Casamassimi, Amelia;
Petillo, Orsolina;
Margarucci, Sabrina;
Rienzo, Monica;
Peluso, Ivana;
Calvani, Riccardo;
Ciccodicola, Alfredo;
Caporaso, Nicola;
Peluso, Gianfranco

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

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

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

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

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

Relationship between semen quality and seminal plasma total carnitine in infertile men.

Published in:

Journal of Obstetrics & Gynaecology, 2003, v. 23, n. 6, p. 653, doi. 10.1080/01443610310001604466

By:

Gürbüz, B.;
Yalti, S.;
Fiçicioğlu, C.;
Zeh&idot;r, K.

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

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

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

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

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

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 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 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

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

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

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

HYPOLIPIDEMIC AND ANTI-PLATELET AGGREGATORY EFFECTS OF LCARNITINE AND _-LIPOIC ACID ON EXPERIMENTALLY INDUCED ATHEROSCLEROSIS.

Published in:

Malaysian Journal of Medical Sciences, 2007, v. 14, p. 178

By:

Kumar, Ponnusamy;
Sutha, Rajendiran;
Murugesan, Annamalai;
Dayanandan, Anandan

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

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

Lipid storage myopathies with unusual clinical manifestations.

Published in:

Neurology India, 2008, v. 56, n. 3, p. 391

By:

Uppin, Megha S.;
Sundaram, C.;
Meena, A. K.;
Reddy, Krishna Mohan;
Reddy, K. Krishna;
Vanniarajan, A.;
Thangaraj, K.

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

Molecular and functional characterisation of mild MCAD deficiency.

Published in:

Human Genetics, 2001, v. 108, n. 5, p. 404, doi. 10.1007/s004390100501

By:

Zschocke, Johannes;
Schulze, Andreas;
Lindner, Martin;
Fiesel, Sonja;
Olgemöller, Katharina;
Hoffmann, Georg F.;
Penzien, Johannes;
Ruiter, Jos P. N.;
Wanders, Ronald J. A.;
Mayatepek, Ertan

Publication type:

Article

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

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

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