Works matching DE "FATTY acid oxidation disorders"

Results: 24

Cyclic vomiting syndrome masking a fatal metabolic disease.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 5, p. 707, doi. 10.1007/s00431-012-1852-z

By:

Fitzgerald, Marianne;
Crushell, Ellen;
Hickey, Caroline

Publication type:

Article

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Published in:

2016

By:

Alfadhel, Majid;
Benmeakel, Mohammed;
Arif Hossain, Mohammad;
Al Mutairi, Fuad;
Al Othaim, Ali;
Alfares, Ahmed A.;
Al Balwi, Mohammed;
Alzaben, Abdullah;
Eyaid, Wafaa;
Hossain, Mohammad Arif

Publication type:

journal article

Insulin resistance: cross-talk between adipose tissue and skeletal muscle, through free fatty acids, liver X receptor, and peroxisome proliferator-activated receptor-α signaling.

Published in:

Hormone Molecular Biology & Clinical Investigation, 2013, v. 15, n. 3, p. 115, doi. 10.1515/hmbci-2013-0019

By:

Olson, Ann Louise

Publication type:

Article

Neonatal Carnitine Palmitoyltransferase II Deficiency: A Lethal Entity.

Published in:

2015

By:

MALIK, SUSHMA;
PALDIWAL, ASHUTOSH ABHIMANYU;
KORDAY, CHARUSHEELA SUJIT;
JADHAV, SHRUTI SUDHIR

Publication type:

Case Study

Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders.

Published in:

BMC Biology, 2016, v. 14, p. 1, doi. 10.1186/s12915-016-0327-5

By:

van Eunen, Karen;
Volker-Touw, Catharina M. L.;
Gerding, Albert;
Bleeker, Aycha;
Wolters, Justina C.;
van Rijt, Willemijn J.;
Martines, Anne-Claire M. F.;
Niezen-Koning, Klary E.;
Heiner, Rebecca M.;
Permentier, Hjalmar;
Groen, Albert K.;
Reijngoud, Dirk-Jan;
Derks, Terry G. J.;
Bakker, Barbara M.

Publication type:

Article

Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism.

Published in:

PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0156738

By:

Valencia, C. Alexander;
Wang, Xinjian;
Wang, Jin;
Peters, Anna;
Simmons, Julia R.;
Moran, Molly C.;
Mathur, Abhinav;
Husami, Ammar;
Qian, Yaping;
Sheridan, Rachel;
Bove, Kevin E.;
Witte, David;
Huang, Taosheng;
Miethke, Alexander G.

Publication type:

Article

Next generation sequencing with copy-numbervariant detection expands the phenotypic spectrum of HSD17B4-deficiency.

Published in:

BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-30

By:

Lieber, Daniel S.;
Hershman, Steven G.;
Slate, Nancy G.;
Calvo, Sarah E.;
Sims, Katherine B.;
Schmahmann, Jeremy D.;
Mootha, Vamsi K.

Publication type:

Article

Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T.

Published in:

Case Reports in Genetics, 2015, p. 1, doi. 10.1155/2015/532090

By:

Drendel, Holli M.;
Pike, Jason E.;
Schumacher, Katherine;
Ouyang, Karen;
Wang, Jing;
Stuy, Mary;
Dlouhy, Stephen;
Bai, Shaochun

Publication type:

Article

Fatty Acid Beta-Oxidation Disorders: A Brief Review.

Published in:

Annals of Neurosciences, 2016, v. 23, n. 1, p. 51, doi. 10.1159/000443556

By:

Vishwanath, Vijay A.

Publication type:

Article

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Published in:

2018

By:

Lotz-Havla, Amelie S.;
Röschinger, Wulf;
Schiergens, Katharina;
Singer, Katharina;
Karall, Daniela;
Konstantopoulou, Vassiliki;
Wortmann, Saskia B.;
Maier, Esther M.

Publication type:

journal article

Obesity and the dysregulation of fatty acid metabolism: implications for healthy aging.

Published in:

Expert Review of Endocrinology & Metabolism, 2016, v. 11, n. 6, p. 501, doi. 10.1080/17446651.2016.1245141

By:

Morgan, Amy;
Mooney, Kathleen;
Mc Auley, Mark.

Publication type:

Article

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.

Published in:

2018

By:

Kang, Eungu;
Kim, Yoon-Myung;
Kang, Minji;
Heo, Sun-Hee;
Kim, Gu-Hwan;
Choi, In-Hee;
Choi, Jin-Ho;
Yoo, Han-Wook;
Lee, Beom Hee

Publication type:

journal article

Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies.

Published in:

Bioscience Reports, 2016, v. 36, n. 1, p. 1, doi. 10.1042/BSR20150240

By:

Wajner, Moacir;
Amaral, Alexandre Umpierrez

Publication type:

Article

Impact of fatty acid oxidation disorders in child neurology: from Reye syndrome to Pandora's box.

Published in:

2015

By:

Tein, Ingrid

Publication type:

Editorial

Novel biomarkers for inborn errors of metabolism in the metabolomics era.

Published in:

Indian Journal of Biochemistry & Biophysics, 2018, v. 55, n. 5, p. 314

By:

Vaidyanathan, Kannan;
Gopalakrishnan, Sandhya

Publication type:

Article

Ribosomal Proteins RPS11 and RPS20, Two Stress-Response Markers of Glioblastoma Stem Cells, Are Novel Predictors of Poor Prognosis in Glioblastoma Patients.

Published in:

PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0141334

By:

Yong, William H.;
Shabihkhani, Maryam;
Telesca, Donatello;
Yang, Shuai;
Tso, Jonathan L.;
Menjivar, Jimmy C.;
Wei, Bowen;
Lucey, Gregory M.;
Mareninov, Sergey;
Chen, Zugen;
Liau, Linda M.;
Lai, Albert;
Nelson, Stanley F.;
Cloughesy, Timothy F.;
Tso, Cho-Lea

Publication type:

Article

Abbreviated Half-Lives and Impaired Fuel Utilization in Carnitine Palmitoyltransferase II Variant Fibroblasts.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119936

By:

Yao, Min;
Cai, Min;
Yao, Dengfu;
Xu, Xi;
Yang, Rongrong;
Li, Yuting;
Zhang, Yuanyuan;
Kido, Hiroshi;
Yao, Dengbing

Publication type:

Article

Histone Deacetylase Inhibitor Upregulates Peroxisomal Fatty Acid Oxidation and Inhibits Apoptotic Cell Death in Abcd1-Deficient Glial Cells.

Published in:

PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0070712

By:

Singh, Jaspreet;
Khan, Mushfiquddin;
Pujol, Aurora;
Baarine, Mauhamad;
Singh, Inderjit

Publication type:

Article

Chronic Treatment with the AMP-Kinase Activator AICAR Increases Glycogen Storage and Fatty Acid Oxidation in Skeletal Muscles but Does Not Reduce Hyperglucagonemia and Hyperglycemia in Insulin Deficient Rats.

Published in:

PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0062190

By:

Vitzel, Kaio F.;
Bikopoulos, George;
Hung, Steven;
Pistor, Kathryn E.;
Patterson, Jessica D.;
Curi, Rui;
Ceddia, Rolando B.

Publication type:

Article

A CAFEÍNA POTENCIALIZA O DESEMPENHO EM ATIVIDADES DE ENDURANCE?

Published in:

Brazilian Journal of Biomotricity, 2012, v. 6, n. 3, p. 144

By:

de Souza Junior, Tácito Pessoa;
Capitani, Caroline Dario;
Filho, Irineu Loturco;
Viveiros, Luis;
Aoki, Marcelo Saldanha

Publication type:

Article

HELLP Syndrome: Altered Hypoxic Response of the Fatty Acid Oxidation Regulator SIRT 4.

Published in:

Reproductive Sciences, 2017, v. 24, n. 4, p. 568, doi. 10.1177/1933719116667216

By:

Sandvoß, Mareike;
Potthast, Arne Björn;
Versen-Höynck, Frauke von;
Das, Anibh Martin

Publication type:

Article

The Regulation of Fatty Acid Oxidation in Human Preeclampsia.

Published in:

Reproductive Sciences, 2016, v. 23, n. 10, p. 1422, doi. 10.1177/1933719116641759

By:

Shin, Eun-Kyeong;
Kang, Hee Young;
Yang, Hyun;
Jung, Eui-Man;
Jeung, Eui-Bae

Publication type:

Article

Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-79

By:

Aires, Virginie;
Delmas, Dominique;
Bachelier, Carole Le;
Latruffe, Norbert;
Schlemmer, Dimitri;
Benoist, Jean-François;
Djouadi, Fatima;
Bastin, Jean

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