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Showing 1-20 of 4,935 results
  1. Circulating acyl-CoA-binding protein/diazepam-binding inhibitor in gestational diabetes mellitus

    Background

    Acyl-CoA-binding protein (ACBP)/diazepam-binding inhibitor has recently been characterized as an endocrine factor affecting energy balance...

    Robin Schürfeld, Ekaterine Baratashvili, ... Thomas Ebert in Reproductive Biology and Endocrinology
    Article Open access 23 October 2023
  2. The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis

    Background

    Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common lipid storage myopathy. There are sex differences in fat...

    **g Ma, Huiqiu Zhang, ... Wei Zhang in Orphanet Journal of Rare Diseases
    Article Open access 16 February 2024
  3. A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report

    Background

    Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II is an extremely rare autosomal recessive inborn error of...

    Loredana De Pasquale, Petronilla Meo, ... Caterina Cacace in Italian Journal of Pediatrics
    Article Open access 05 September 2022
  4. Drug Resistant Epilepsy (DRE) Secondary to 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (HADH) in Siblings

    Vykuntaraju K Gowda, Viveka-Santhosh Reddy, ... Varunvenkat M Srinivasan in Indian Journal of Pediatrics
    Article 12 December 2023
  5. Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

    Background

    Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority...

    Ryan Iverson, Monica Taljaard, ... Pranesh Chakraborty in BMC Pediatrics
    Article Open access 13 January 2024
  6. Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test

    Background

    The clinical severity of very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is difficult to predict using conventional diagnostic...

    Keiichi Sugihara, Miori Yuasa, ... Yosuke Shigematsu in Pediatric Research
    Article 08 February 2022
  7. Long-chain fatty acyl-CoA synthetase 1 promotes prostate cancer progression by elevation of lipogenesis and fatty acid beta-oxidation

    Fatty acid metabolism is essential for the biogenesis of cellular components and ATP production to sustain proliferation of cancer cells. Long-chain...

    Yongjie Ma, Junyi Zha, ... Houjian Cai in Oncogene
    Article 09 February 2021
  8. Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency

    Background

    Multiple acyl-CoA dehydrogenase deficiency (MADD) is a treatable lipid metabolism disorder that presents as myopathy and episodic metabolic...

    Po-Yu Lin, Wen-Chen Liang, ... Yuan-Ting Sun in BMC Neurology
    Article Open access 27 February 2021
  9. Late-onset multiple acyl-CoA dehydrogenase deficiency with breast cancer

    Background

    Multiple acyl-CoA dehydrogenase deficiency (MAAD) is a rare metabolic disorder resulting from an abnormality in fatty acid oxidation. There...

    Keechilat Pavithran, Divya Pachat, Dehannathparambil Kottarathil Vijaykumar in Egyptian Journal of Medical Human Genetics
    Article Open access 12 December 2020
  10. Increased expression of acyl-CoA oxidase 2 in the kidney with plasma phytanic acid and altered gut microbiota in spontaneously hypertensive rats

    We performed a DNA microarray analysis of the renal medulla and cortex from spontaneously hypertensive rats (SHRs), stroke-prone SHRs (SHRSPs), and...

    Masahiro Okamura, Takahiro Ueno, ... Noboru Fukuda in Hypertension Research
    Article 27 January 2021
  11. Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report

    Background

    Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare and treatable inherited lipid storage myopathy. Here, we report an...

    Yiming Zheng, Yawen Zhao, ... Yun Yuan in BMC Neurology
    Article Open access 02 December 2020
  12. Multiple acyl-COA dehydrogenase deficiency in elderly carriers

    Multiple acyl-CoA dehydrogenase deficiency, or glutaric aciduria type II, is an autosomal recessive disorder of fatty acid oxidation due to defects...

    Francesco Macchione, Leonardo Salviati, ... Paola Tonin in Journal of Neurology
    Article 29 January 2020
  13. ACSL5, a prognostic factor in acute myeloid leukemia, modulates the activity of Wnt/β-catenin signaling by palmitoylation modification

    Acyl-CoA synthetase long chain family member 5 (ACSL5), is a member of the acyl-CoA synthetases (ACSs) family that activates long chain fatty acids...

    Wenle Ye, **ghan Wang, ... Jie ** in Frontiers of Medicine
    Article 03 May 2023
  14. Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency

    Background

    Enoyl-CoA hydratase short-chain 1 (ECHS1) is a key mitochondrial enzyme that is involved in valine catabolism and fatty acid...

    Silvia Pata, Katherine Flores-Rojas, ... Mercedes Gil-Campos in Orphanet Journal of Rare Diseases
    Article Open access 05 September 2022
  15. Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?

    Background

    Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is the most frequent fatty acid oxidation (FAO) defect in humans....

    Zahra Nochi, Rune Isak Dupont Birkler, ... Rikke Katrine Jentoft Olsen in Pediatric Research
    Article 11 February 2020
  16. Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening

    Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial β-oxidation of fatty acids resulting in...

    Ulrike Mütze, Uta Nennstiel, ... Dorothea Haas in European Journal of Pediatrics
    Article Open access 16 March 2022
  17. Altered expression of ACOX2 in non-small cell lung cancer

    Peroxisomes are organelles that play essential roles in many metabolic processes, but also play roles in innate immunity, signal transduction, aging...

    Jane S. Y. Sui, Petra Martin, ... Steven G. Gray in BMC Pulmonary Medicine
    Article Open access 23 August 2022
  18. Anesthetic management of multiple acyl-coenzyme A dehydrogenase deficiency in a series of surgeries under general anesthesia: a case report

    Background

    Glutaric acidemia is a type of multiple acyl-coenzyme A dehydrogenase deficiency, an inborn error in fatty acid metabolism. In patients...

    Ryoko Owaki-Nakano, Midoriko Higashi, ... Ken Yamaura in JA Clinical Reports
    Article Open access 10 July 2021
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