Works matching Fatty acid oxidation disorders

Results: 374

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

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

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

The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder.

Published in:

European Journal of Pediatrics, 2025, v. 184, n. 6, p. 1, doi. 10.1007/s00431-025-06216-3

By:

Köse, Engin;
İnci, Aslı;
Yazıcı, Havva;
Zübarioğlu, Tanyel;
Kılavuz, Sebile;
Çıkı, Kısmet;
Er, Esra;
Balcı, Mehmet Cihan;
Kahraman, Ayça Burcu;
Önenli Mungan, Neslihan;
Aktuğlu Zeybek, Çiğdem;
Kalkan Uçar, Sema;
Tümer, Leyla;
Eminoğlu, Fatma Tuba

Publication type:

Article

Population Pharmacokinetics of Heptanoate in Healthy Subjects and Patients With Long‐Chain Fatty Acid Oxidation Disorders Treated With Triheptanoin.

Published in:

Clinical Pharmacology in Drug Development, 2022, v. 11, n. 11, p. 1264, doi. 10.1002/cpdd.1145

By:

Lee, Sun Ku;
Gosselin, Nathalie H.;
Jomphe, Claudia;
McKeever, Kathleen;
Putnam, Wendy

Publication type:

Article

Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 9, doi. 10.3390/ijns11010009

By:

Drole Torkar, Ana;
Klinc, Ana;
Remec, Ziga Iztok;
Rankovic, Branislava;
Bartolj, Klara;
Bertok, Sara;
Colja, Sara;
Cuk, Vanja;
Debeljak, Marusa;
Kozjek, Eva;
Repic Lampret, Barbka;
Mlinaric, Matej;
Mohar Hajnsek, Tinka;
Perko, Daša;
Stajer, Katarina;
Tesovnik, Tine;
Trampuz, Domen;
Ulaga, Blanka;
Kovac, Jernej;
Battelino, Tadej

Publication type:

Article

Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.

Published in:

Cells (2073-4409), 2021, v. 10, n. 5, p. 1239, doi. 10.3390/cells10051239

By:

Alatibi, Khaled I.;
Hagenbuchner, Judith;
Wehbe, Zeinab;
Karall, Daniela;
Ausserlechner, Michael J.;
Vockley, Jerry;
Spiekerkoetter, Ute;
Grünert, Sarah C.;
Tucci, Sara;
Riboni, Laura

Publication type:

Article

Tutorial: Triheptanoin and Nutrition Management for Treatment of Long‐Chain Fatty Acid Oxidation Disorders.

Published in:

JPEN Journal of Parenteral & Enteral Nutrition, 2021, v. 45, n. 2, p. 230, doi. 10.1002/jpen.2034

By:

Norris, Marie K.;
Scott, Anna I.;
Sullivan, Sarah;
Chang, Irene J.;
Lam, Christina;
Sun, Angela;
Hahn, Sihoun;
Thies, Jenny M.;
Gunnarson, Melissa;
McKean, Kelly N.;
Merritt, J. Lawrence

Publication type:

Article

Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.

Published in:

2019

By:

Janeiro, Patrícia;
Jotta, Rita;
Ramos, Ruben;
Florindo, Cristina;
Ventura, Fátima V.;
Vilarinho, Laura;
Tavares de Almeida, Isabel;
Gaspar, Ana

Publication type:

journal article

Sepsis Tablosunda Gelen Yağ Asidi Oksidasyon Bozukluğu.

Published in:

Journal of the Child / Çocuk Dergisi, 2014, v. 14, n. 3, p. 125, doi. 10.5222/j.child.2014.125

By:

ALP, Emel EKŞİ;
CEBECİ, Sinem ORAL;
UYSALOL, Metin;
ÇITAK, Agop;
KARACA, Meryem;
ERTÜRK, Tuğçe

Publication type:

Article

Lipidomic and Proteomic Alterations Induced by Even and Odd Medium-Chain Fatty Acids on Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10556, doi. 10.3390/ijms221910556

By:

Alatibi, Khaled I.;
Tholen, Stefan;
Wehbe, Zeinab;
Hagenbuchner, Judith;
Karall, Daniela;
Ausserlechner, Michael J.;
Schilling, Oliver;
Grünert, Sarah C.;
Vockley, Jerry;
Tucci, Sara

Publication type:

Article

Identification of fatty acid oxidation disorder patients with lowered acyl-CoA thioesterase activity in human skin fibroblasts.

Published in:

European Journal of Clinical Investigation, 2005, v. 35, n. 1, p. 38, doi. 10.1111/j.1365-2362.2005.01447.x

By:

Hunt, M. C.;
Ruiter, J.;
Mooyer, P.;
van Roermond, C. W. T.;
Ofman, R.;
Ijlst, L.;
Wanders, R. J. A.

Publication type:

Article

Clinical manifestations, healthcare resource utilization, and costs among patients with long-chain fatty acid oxidation disorders: a retrospective claims database analysis.

Published in:

Current Medical Research & Opinion, 2024, v. 40, n. 11, p. 1893, doi. 10.1080/03007995.2024.2405124

By:

Yang, Erru;
Fang, Zhenzhen;
Tan, Ruixin;
Guo, Yun;
He, Siyi;
Kruger, Eliza;
Nedzesky, Justin;
Marsden, Deborah

Publication type:

Article

Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy.

Published in:

Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01782-y

By:

Porta, Francesco;
Maiorana, Arianna;
Gragnaniello, Vincenza;
Procopio, Elena;
Gasperini, Serena;
Taurisano, Roberta;
Spada, Marco;
Dionisi-Vici, Carlo;
Burlina, Alberto

Publication type:

Article

Nutritional Management of Patients with Fatty Acid Oxidation Disorders.

Published in:

Nutrients, 2024, v. 16, n. 16, p. 2707, doi. 10.3390/nu16162707

By:

Peña-Quintana, Luis;
Correcher-Medina, Patricia

Publication type:

Article

Evidence that Oxidative Disbalance and Mitochondrial Dysfunction are Involved in the Pathophysiology of Fatty Acid Oxidation Disorders.

Published in:

Cellular & Molecular Neurobiology, 2022, v. 42, n. 3, p. 521, doi. 10.1007/s10571-020-00955-7

By:

Ribas, Graziela Schmitt;
Vargas, Carmen Regla

Publication type:

Article

Anthropometric Parameters in Patients with Fatty Acid Oxidation Disorders: A Case–Control Study, Systematic Review and Meta-Analysis.

Published in:

Healthcare (2227-9032), 2022, v. 10, n. 12, p. 2405, doi. 10.3390/healthcare10122405

By:

Wasiewicz-Gajdzis, Maria;
Jamka, Małgorzata;
Geltz, Jakub;
Bokayeva, Kamila;
Kałużny, Łukasz;
Jagłowska, Joanna;
Walkowiak, Jarosław

Publication type:

Article

Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 6, p. 683, doi. 10.1515/jpem-2019-0551

By:

Wang, Shuting;
Leng, Junhong;
Diao, Chengming;
Wang, Yuan;
Zheng, Rongxiu

Publication type:

Article

Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.598760

By:

Sklirou, Evgenia;
Alodaib, Ahmad N.;
Dobrowolski, Steven F.;
Vockley, Jerry

Publication type:

Article

LCHAD and MTP Deficiencies - Two Disorders of Mitochondrial Fatty Acid -Oxidation with Unusual Features.

Published in:

Current Pediatric Reviews, 2007, v. 3, n. 1, p. 53, doi. 10.2174/157339607779941633

By:

Eskelin, Petra;
Tyni, Tiina

Publication type:

Article

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

Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany.

Published in:

2004

By:

Hoffmann, Georg F;
von Kries, Rüdiger;
Klose, Daniela;
Lindner, Martin;
Schulze, Andreas;
Muntau, Ania C;
Röschinger, Wulf;
Liebl, Bernhard;
Mayatepek, Ertan;
Roscher, Adelbert A

Publication type:

journal article

Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany.

Published in:

European Journal of Pediatrics, 2004, v. 163, n. 2, p. 76

By:

Lindner, Martin;
Liebl, Bernhard;
Röschinger, Wulf;
Hoffmann, Georg F.;
Muntau, Ania C.;
Roscher, Adelbert A.;
Klose, Daniela;
Schulze, Andreas;
von Kries, Rüdiger;
Mayatepek, Ertan

Publication type:

Article

Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation.

Published in:

2001

By:

Marsden, Deborah;
Nyhan, William L.;
Barshop, Bruce A.;
Marsden, D;
Nyhan, W L;
Barshop, B A

Publication type:

journal article

The Pharmacokinetics of Triheptanoin and Its Metabolites in Healthy Subjects and Patients With Long‐Chain Fatty Acid Oxidation Disorders.

Published in:

Clinical Pharmacology in Drug Development, 2021, v. 10, n. 11, p. 1325, doi. 10.1002/cpdd.944

By:

Lee, Sun Ku;
Gupta, Manju;
Shi, Jack;
McKeever, Kathleen

Publication type:

Article

Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders.

Published in:

2021

By:

Zöggeler, Thomas;
Stock, Katharina;
Jörg-Streller, Monika;
Spenger, Johannes;
Konstantopoulou, Vassiliki;
Hufgard-Leitner, Miriam;
Scholl-Bürgi, Sabine;
Karall, Daniela

Publication type:

journal article

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

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

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

Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review.

Published in:

2022

By:

Guerra, Inês M. S.;
Ferreira, Helena B.;
Melo, Tânia;
Rocha, Hugo;
Moreira, Sónia;
Diogo, Luísa;
Domingues, Maria Rosário;
Moreira, Ana S. P.

Publication type:

Literature Review

Long‐term prognosis of fatty‐acid oxidation disorders in adults: Optimism despite the limited effective therapies available.

Published in:

European Journal of Neurology, 2024, v. 31, n. 2, p. 1, doi. 10.1111/ene.16138

By:

Rouyer, Alice;
Tard, Céline;
Dessein, Anne‐Frédérique;
Spinazzi, Marco;
Bédat‐Millet, Anne‐Laure;
Dimitri‐Boulos, Dalia;
Nadaj‐Pakleza, Aleksandra;
Chanson, Jean‐Baptiste;
Nicolas, Guillaume;
Douillard, Claire;
Laforêt, Pascal

Publication type:

Article

PP531 Quality Of Life Of Patients With Long-Chain Fatty Acid Oxidation Disorders Before And During Treatment With Triheptanoin.

Published in:

2020

By:

Kruger, Eliza;
Marsden, Deborah;
Bensimon, Arielle;
Cook, Erin;
Orvis, Eli;
Yang, Hongbo;
Mayhew, Jill;
Thomas, Nina

Publication type:

Abstract

Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 15, p. S213, doi. 10.1007/PL00014406

By:

Gregersen, Niels;
Andresen, Brage Storstein;
Bross, Peter

Publication type:

Article

Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.

Published in:

2000

By:

Gregersen, N;
Andresen, B S;
Bross, P

Publication type:

journal article

Paeoniae Radix Rubra can enhance fatty acid β-oxidation and alleviate gut microbiota disorder in α-naphthyl isothiocyanate induced cholestatic model rats.

Published in:

Frontiers in Pharmacology, 2022, v. 13, p. 01, doi. 10.3389/fphar.2022.1002922

By:

Jing-Jing Xu;
Feng Xu;
Wei Wang;
Peng-Pu Wang;
Jing Xian;
Xing Han;
Ming-Ying Shang;
Guang-Xue Liu;
Xuan Wang;
Shao-Qing Cai

Publication type:

Article

Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.

Published in:

Pediatric Nephrology, 2017, v. 32, n. 5, p. 791, doi. 10.1007/s00467-016-3556-5

By:

Hackl, Agnes;
Mehler, Katrin;
Gottschalk, Ingo;
Vierzig, Anne;
Eydam, Marcus;
Hauke, Jan;
Beck, Bodo;
Liebau, Max;
Ensenauer, Regina;
Weber, Lutz;
Habbig, Sandra

Publication type:

Article

Cardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders.

Published in:

Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15317

By:

Balci, Mehmet Cihan;
Karaca, Meryem;
Ergul, Yakup;
Omeroglu, Rukiye Eker;
Demirkol, Mubeccel;
Gokcay, Gulden Fatma

Publication type:

Article

Clinical and Gene Analysis of Fatty Acid Oxidation Disorders Found in Neonatal Tandem Mass Spectrometry Screening.

Published in:

Pharmacogenomics & Personalized Medicine, 2023, v. 16, p. 577, doi. 10.2147/PGPM.S402760

By:

Wang, Xiaoxia;
Fang, Haining

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

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

Is the Proof of the Pudding in the Fasting When It Comes to Rare Inherited Mitochondrial Fatty Acid Oxidation Disorders?

Published in:

Acta Paediatrica, 2025, v. 114, n. 6, p. 1098, doi. 10.1111/apa.70046

By:

Haijer‐Schreuder, Andrea B.;
Jager, Emmalie A.;
Derks, Terry G. J.

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

PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 217, doi. 10.1007/s10545-008-0844-7

By:

Djouadi, F.;
Bastin, J.

Publication type:

Article

A retrospective ESI-MS/MS analysis of newborn blood spots from 18 symptomatic patients with organic acid and fatty acid oxidation disorders diagnosed either in infancy or in childhood.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 606, doi. 10.1007/s10545-007-0642-7

By:

Kobayashi, H.;
Hasegawa, Y.;
Endo, M.;
Purevsuren, J.;
Yamaguchi, S.

Publication type:

Article

Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 27, doi. 10.1023/A:1005694712583

By:

Shen, J.;
Matern, D.;
Millington, D.;
Hillman, S.;
Feezor, M.;
Bennett, M.;
Qumsiyeh, M.;
Kahler, S.;
Chen, Y.-T.;
Van Hove, J.

Publication type:

Article

Lactic acidosis in long-chain fatty acid β-oxidation disorders.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 645, doi. 10.1023/A:1005480516801

By:

Ventura, F.;
Ruiter, J.;
IJlst, L.;
Tavares de Almeida, I.;
Wanders, R.

Publication type:

Article

Commentary: Neonatal onset in fatty acid oxidation disorders: How can we minimize morbidity and mortality?

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 619, doi. 10.1023/A:1005436414984

By:

Riudor, E.

Publication type:

Article

Compromised fatty acid oxidation in mitochondrial disorders.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 613, doi. 10.1023/A:1005431424744

By:

Hagenfeldt, L.

Publication type:

Article