Relevant bibliographies by topics / CoA dehydrogenase (LCAD) deficiency

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'CoA dehydrogenase (LCAD) deficiency'

Author: Grafiati
Published: 5 June 2025
Last updated: 2 August 2025

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Journal articles on the topic "CoA dehydrogenase (LCAD) deficiency"

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van VLIES, Naomi, Liqun TIAN, Henk OVERMARS, et al. "Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse." Biochemical Journal 387, no. 1 (2005): 185–93. http://dx.doi.org/10.1042/bj20041489.

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In the present paper, we describe a novel method which enables the analysis of tissue acylcarnitines and carnitine biosynthesis intermediates in the same sample. This method was used to investigate the carnitine and fatty acid metabolism in wild-type and LCAD−/− (long-chain acyl-CoA dehydrogenase-deficient) mice. In agreement with previous results in plasma and bile, we found accumulation of the characteristic C14:1-acylcarnitine in all investigated tissues from LCAD−/− mice. Surprisingly, quantitatively relevant levels of 3-hydroxyacylcarnitines were found to be present in heart, muscle and b
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Ijlst, Lodewijk, and Ronald J. A. Wanders. "A Simple Spectrophotometric Assay for Long-Chain Acyl-CoA Dehydrogenase Activity Measurements in Human Skin Fibroblasts." Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 30, no. 3 (1993): 293–97. http://dx.doi.org/10.1177/000456329303000311.

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Long-chain acyl-CoA dehydrogenase (LCAD) deficiency is an autosomal recessive disorder of fatty acid metabolism characterized by hypoglycemia, muscle weakness and hepato- and cardiomegaly to varying extents. Analysis of organic acids in urine usually reveals dicarboxylic aciduria with elevated levels of adipic, suberic and sebacic acids as well as longer chain dicarboxylic acids. Correct diagnosis of suspected patients requires measurement of LCAD in tissue or preferably, white blood cells and/or cultured skin fibroblasts. In this paper we present a simple spectrophotometric enzyme assay based
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Chiba, Takuto, Eric S. Goetzman, and Sunder Sims-Lucas. "Deficiency of Long-Chain Acyl-CoA Dehydrogenase (LCAD) Protects Against AKI." Journal of the American Society of Nephrology 33, no. 11S (2022): 628–29. http://dx.doi.org/10.1681/asn.20223311s1628d.

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Das, Anibh M., Sabine Illsinger, Thomas Lücke, et al. "Isolated Mitochondrial Long-Chain Ketoacyl-CoA Thiolase Deficiency Resulting from Mutations in the HADHB Gene." Clinical Chemistry 52, no. 3 (2006): 530–34. http://dx.doi.org/10.1373/clinchem.2005.062000.

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Abstract Background: The human mitochondrial trifunctional protein (MTP) complex is composed of 4 hydroacyl-CoA dehydrogenase-α (HADHA) and 4 hydroacyl-CoA dehydrogenase-β (HADHB) subunits, which catalyze the last 3 steps in the fatty acid β-oxidation spiral of long-chain fatty acids. The HADHB gene encodes long-chain ketoacyl-CoA thiolase (LCTH) activity, whereas the HADHA gene contains the information for the long-chain enoyl-CoA hydratase and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) functions. At present, 2 different biochemical phenotypes of defects in the mitochondrial trifuncti
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Roslavtseva, E. A., T. V. Bushueva, T. E. Borovik, et al. "An application experience of a specialized product based on 100% medium-chain triglyceride oil in diet therapy of a child with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency." Experimental and Clinical Gastroenterology, no. 2 (April 7, 2021): 106–13. http://dx.doi.org/10.31146/1682-8658-ecg-186-2-106-113.

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a hereditary disease referred to the group of disorders of mitochondrial β-oxidation of fatty acids with autosomal recessive inheritance. The main symptoms include hypoglycemia, hepatic steatosis, cardiomyopathy, cardiac arrhythmias, progressive muscle hypotension. We present a case of successful diagnosis and treatment of a long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) with the use of 100% medium chain triglycerides’ oil product. The importance of the possibly earliest verification of the diagnosis and initiation
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Khramova, Elena B., Elena Yu Khorosheva, and Olga V. Perfilova. "Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case report." Problems of Endocrinology 64, no. 3 (2018): 160–62. http://dx.doi.org/10.14341/probl8636.

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Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) is an autosomal recessive mitochondrial fatty acid beta-oxidation disorder with variable presentation including lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), hepatic steatosis, and hypocarnitinemia. In this report, we describe a 9-month-old male patient who suffered from recurrent hypoglycemia with hypoglycemic convulsions, vomiting, and neurological regression since the age of 4 months. The patient presented with hypotonia, motor delay, hepatomegaly, protein-energy malnutrition (BMI SDS — 2.8). Bioch
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Alatibi, Khaled I., Judith Hagenbuchner, Zeinab Wehbe, et al. "Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders." Cells 10, no. 5 (2021): 1239. http://dx.doi.org/10.3390/cells10051239.

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Long-chain fatty acid oxidation disorders (lc-FAOD) are a group of diseases affecting the degradation of long-chain fatty acids. In order to investigate the disease specific alterations of the cellular lipidome, we performed undirected lipidomics in fibroblasts from patients with carnitine palmitoyltransferase II, very long-chain acyl-CoA dehydrogenase, and long-chain 3-hydroxyacyl-CoA dehydrogenase. We demonstrate a deep remodeling of mitochondrial cardiolipins. The aberrant phosphatidylcholine/phosphatidylethanolamine ratio and the increased content of plasmalogens and of lysophospholipids s
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Vinayasree., C., Naidu. K. Mohan, E. Muralinath., et al. "Symptoms of Classical MCAD Deficiency, Variant MCAD Deficiency as well as Silent Mcad Deficiency, Diagnosis of MCAD Deficiency, Differential Diagnosis of MCAD Deficiency and Treatment as well as Management of MCAD Deficiency." Research and Reviews: Neonatal and Pediatric Nursing 1, no. 2 (2023): 5–12. https://doi.org/10.5281/zenodo.8163023.

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<em>Medium - chain acetyl - CoA dehydrogenase (MCAD) deficiency ia a rare inherited metabolic disorder that shows its influence on the bodys capability to breakdown fatty acids for energy. The symptoms of classical MCAD deficiency typically manifest especially during infancy or early childhood. Variant MCAD deficiency is happened by mutations in the ACADM gene. Symptoms of variant MCAD deficiency are hypoglycemia, vomiting, lethargy, encephalopathy and liver dysfunction. Silent MCAD deficiency is also known as silent medium - chain acyl CoA dehydrogenase deficiency. Symptoms of silent MCAD def
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Baydakova, Galina V., Polina G. Tsygankova, Natalia L. Pechatnikova, Olga A. Bazhanova, Yana D. Nazarenko, and Ekaterina Y. Zakharova. "New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency." International Journal of Neonatal Screening 9, no. 3 (2023): 48. http://dx.doi.org/10.3390/ijns9030048.

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Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare fatal disorders of fatty acid β-oxidation with no apparent genotype–phenotype correlation. The measurement of acylcarnitines by MS/MS is a current diagnostic workup in these disorders. Nevertheless, false-positive and false-negative results have been reported, highlighting a necessity for more sensitive and specific biomarkers. This study included 54 patients with LCHAD/MTP deficiency that has been confirmed by biochemical and molecular methods. The analysis of acylcarnitines
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Kulebina, Elena A., Andrey N. Surkov, Aleksandr S. Potapov, et al. "Diagnosis and treatment of the long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) in a 8 months old infant." Russian Pediatric Journal 23, no. 4 (2020): 274–79. http://dx.doi.org/10.18821/1560-9561-2020-23-4-274-279.

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A long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a hereditary disease referred to the group of disorders of the mitochondrial β-oxidation of fatty acids. The inheritance mechanism is autosomal recessive. The several main symptoms of the disease include hypoglycemia, liver steatosis, cardiomyopathy, cardiac arrhythmias, progressive muscle hypotension. Laboratory signs include a relative increase in the concentration of long-chain fatty acids, as determined by tandem mass spectrometry. Also, a characteristic feature is a low rate of free carnitine (C0), normally exceeding 20 μmol/liter
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Dissertations / Theses on the topic "CoA dehydrogenase (LCAD) deficiency"

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Brandão, Sofia Reis. "Characterization of mitochondrial dynamics in multiple acyl-CoA dehydrogenase deficiency." Master's thesis, Universidade de Aveiro, 2017. http://hdl.handle.net/10773/22669.

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Mestrado em Bioquímica - Bioquímica Clínica<br>As doenças da β-oxidação mitocondrial dos ácidos gordos fazem parte do painel de doenças detetadas no rastreio neonatal na grande maioria dos países desenvolvidos, incluindo Portugal. A deficiência múltipla das acil-CoA desidrogenases é uma das doenças rastreadas, sendo rara e apresentando um padrão de transmissão autossómico recessivo. Esta disfunção no metabolismo dos ácidos gordos é caracterizada por fenótipos bastante distintos, sendo reconhecidas duas formas clínicas: moderada e grave. Estudos anteriores do nosso grupo de investigação revelar
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Iverson, Ryan. "Measuring Core Outcomes from Metabolic Chart-Abstracted Data for Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency." Thesis, Université d'Ottawa / University of Ottawa, 2020. http://hdl.handle.net/10393/41527.

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Background: Generating evidence to inform care for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency requires sustainable and integrated measurement of priority outcomes. Methods: From an existing Canadian cohort study, we evaluated the quality of metabolic clinic chart-abstracted data for measuring core outcomes for pediatric MCAD deficiency. We then modelled variation in emergency department (ED) use, in association with disease severity, child age, and distance to care. Results: Children with MCAD deficiency visit the metabolic clinic at least annually on average but we identi
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Keeler, Allison M. "Gene Therapy for Very Long Chain Acyl-coA Dehydrogenase Deficiency Using Adeno-Associated Virus Vectors: A Dissertation." eScholarship@UMMS, 2012. https://escholarship.umassmed.edu/gsbs_diss/632.

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Very long chain acyl-coA dehydrogenase (VLCAD) is the rate-limiting step in mitochondrial fatty acid oxidation. VLCAD deficient mice and patients’ clinical symptoms stem from not only an energy deficiency but also long-chain metabolite accumulations. VLCAD deficient mice were treated systemically with 1x10 12 vector genomes of rAAV9-VLCAD. Expression was detected in the liver, heart and muscle. Also substantial expression of VLCAD was noted in the brain, where it was expressed across different sections of the brain and in different cell types with different morphologies. Biochemical correction
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Ylianttila, M. (Mari). "Structure-function studies of the peroxisomal multifunctional enzyme type 2 (MFE-2)." Doctoral thesis, University of Oulu, 2005. http://urn.fi/urn:isbn:9514278968.

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Abstract Multifunctional enzyme type 2 (MFE-2) catalyses the second and the third reactions in the eukaryotic peroxisomal β-oxidation cycle, which degrades fatty acids by removing a two-carbon unit per each cycle. In addition to the 2-enoyl-CoA hydratase 2 and (3R)-hydroxyacyl-CoA dehydrogenase activities, mammalian MFE-2 has also a sterol carrier protein type 2-like (SCP-2L) domain. In contrast, yeast MFE-2 has two (3R)-hydroxyacyl-CoA dehydrogenases, one 2-enoyl-CoA hydratase 2 and no SCP-2L domain. The physiological roles of yeast (3R)-hydroxyacyl-CoA dehydrogenases (A and B) were tested
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Kemp, Philip M. (Philip Marcus). "A Forensic Marker for a Genetic Disease Often Misdiagnosed as Sudden Infant Death Syndrome (SIDS)." Thesis, University of North Texas, 1991. https://digital.library.unt.edu/ark:/67531/metadc500567/.

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Sudden Infant Death (SIDS) has been associated with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, an inborn error of fatty acid oxidation. Blood and tissue samples from a large cohort of SIDS victims were analyzed for the presence of dodecanoic acid (C₁₂) by gas chromatography. A subgroup of these cases had a significantly higher blood concentration than age-matched controls, suggesting MCAD deficiency. An animal study using Sprague-Dawley rats was done to mimic the effects of MCAD deficiency. Significantly increased blood concentrations of dodecanoic acid were observed. Decreased val
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Karaceper, Maria D. "The Epidemiology and Health System Impact of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Among Affected Children and Those with False Positive Newborn Screening Results in Ontario, Canada." Thesis, Université d'Ottawa / University of Ottawa, 2014. http://hdl.handle.net/10393/31509.

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Objective: To describe the epidemiology and health system impact of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in Ontario. Methods: Following a review of methods to estimating robust health event rates for small populations, this study described health services use among infants diagnosed with MCADD or received a false positive newborn screening result for MCADD from April 2006 through March 2010. Each cohort was compared with screen negative infants by linking to databases encompassing physician visits, emergency department care, and hospitalizations. Results: Relative to comparis
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Celorico, Ana Patrícia Monteiro. "Very long-chain Acyl-CoA dehydrogenase deficiency from gene to treatment." Master's thesis, 2015. http://hdl.handle.net/10451/26955.

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Trabalho Final de Mestrado Integrado, Ciências Farmacêuticas, Universidade de Lisboa, Faculdade de Farmácia, 2015<br>A ß-oxidação mitocondrial dos ácidos gordos (MFAO) é uma importante fonte de energia no músculo, especialmente quando as necessidades energéticas fisiológicas estão aumentadas. A deficiência da desidrogenase de ésteres acil-CoA de cadeia muito longa (VLCAD) é caracterizada por uma diminuição da MFAO. A VLCAD é uma das quatro desidrogenases de ésteres acil-CoA que catalisam o primeiro passo da MFAO. A VLCAD é um homodímero de 67 kDa associado à membrana interna da mitocôndria e c
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Oliveira, Ana Sofia Gonçalves Novo e. Rodrigues de. "Pregnancy in very long-chain acyl-CoA dehydrogenase deficiency: maternal-fetal risk (case report)." Master's thesis, 2020. https://hdl.handle.net/10216/127929.

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Oliveira, Ana Sofia Gonçalves Novo e. Rodrigues de. "Pregnancy in very long-chain acyl-CoA dehydrogenase deficiency: maternal-fetal risk (case report)." Dissertação, 2020. https://hdl.handle.net/10216/127929.

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Chen, Tsung-Chien, and 陳宗謙. "Diagnosis of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD) by newborn screening: a feasibility study." Thesis, 2014. http://ndltd.ncl.edu.tw/handle/47038496439409571946.

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碩士<br>國立臺灣大學<br>分子醫學研究所<br>102<br>Background Glutaric acidemia type II (GA II), also known as multiple acyl-coenzyme A dehydrogenase de&;#64257;ciency (MADD), is an autosomal recessive disease caused by electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH) defects. Currently, the diagnosis of GA II in newborn screening dependent on tandem mass spectrometry analysis but the sensitivity is unknown. Method We retrospectively analyzed 296,929 acylcarnitines data of newborn screening results using Tool Runner-GA-II. Score higher than 35 were defined as likely
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Books on the topic "CoA dehydrogenase (LCAD) deficiency"

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Seddon, Helen R. Medium chain acyl-CoA dehydrogenase deficiency: Method evaluation and application to neonatal screening. University of Birmingham, 1995.

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Parker, James N., and Philip M. Parker. Isobutyryl-CoA dehydrogenase deficiency: A bibliography and dictionary for physicians, patients, and genome researchers [to Internet references]. ICON Health Publications, 2007.

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Khai, Tran, and Canadian Coordinating Office for Health Technology Assessment., eds. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry: Clinical and cost-effectiveness. Canadian Coordinating Office for Health Technology Assessment, 2006.

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Duff, Elizabeth M. The diagnosis of medium chain Acyl-CoA dehydrogenase deficiency (MCAD) using radioenzymatic, gas chromatographic and molecular techniques. 1995.

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Clinical and cost-effectiveness of screening newborns for medium chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. Canadian Coordinating Office for Health Technology Assessment, 2006.

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Vernon, Hilary. Glutaric Aciduria Type I. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0067.

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Glutaric Aciduria type I is a recessive inborn error of metabolism caused by deficiency of glutaryl-CoA dehydrogenase. This enzyme is responsible for catabolism of L-lysine, L-hydroxylysine, and L-tryptophan. Deficiency of this enzyme leads to abnormal accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine. Untreated individuals are at extremely high risk for encephalopathic crisis, usually triggered by an intercurrent illness or other stressor, and typically occurring between 3 and 36 months of age. This crisis classically results in bilateral striatal i
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Kölker, Stefan. Glutaric Aciduria Type I. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0021.

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Glutaric aciduria type I is a rare organic aciduria caused by inherited deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme involved in the final common catabolic pathways of L-lysine, L-hydroxylysine, and L-trytophan. The majority of untreated patients develop striatal injury and secondary dystonia during infancy and childhood, whereas identification by newborn screening and immediate start of metabolic treatment (low-lysine diet, carnitine supplementation, metabolic emergency treatment) helps to prevent severe neurological complications in the majority of patients. The morbidity
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Book chapters on the topic "CoA dehydrogenase (LCAD) deficiency"

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Strandqvist, A., C. Bieneck Haglind, R. H. Zetterström, et al. "Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency." In JIMD Reports. Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/8904_2015_505.

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Timson, David J., Richard J. Reece, James B. Thoden, et al. "Glutaryl-CoA Dehydrogenase Deficiency." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_8613.

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Gartler, Stanley M., R. Scott Hansen, Vinzenz Oji, et al. "Isovaleryl CoA Dehydrogenase Deficiency." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_9506.

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van Grunsven, E. G., E. van Berkel, S. Denis, P. A. W. Mooijer, and R. J. A. Wanders. "D-Hydroxyacyl-CoA Dehydrogenase Deficiency." In Current Views of Fatty Acid Oxidation and Ketogenesis. Springer US, 2002. http://dx.doi.org/10.1007/0-306-46818-2_42.

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Angelini, Corrado. "Multiple Acyl-CoA Dehydrogenase Deficiency." In Genetic Neuromuscular Disorders. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56454-8_83.

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Angelini, Corrado. "Multiple Acyl-CoA Dehydrogenase Deficiency." In Genetic Neuromuscular Disorders. Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-07500-6_63.

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Oette, Mark, Marvin J. Stone, Hendrik P. N. Scholl, et al. "Multiple Acyl-CoA Dehydrogenase Deficiency." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7554.

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Karall, D., G. Mair, U. Albrecht, et al. "Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment." In JIMD Reports. Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/8904_2014_313.

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Souza, Paulo Victor Sgobbi, Igor Braga Farias, Roberta Ismael Lacerda Machado, Wladimir Bocca Vieira de Rezende Pinto, and Acary Souza Bulle Oliveira. "Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)." In Genetic Syndromes. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-319-66816-1_1773-1.

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Leung, Alexander K. C., William Lane M. Robson, Carsten Büning, et al. "Long-Chain Acyl-CoA Dehydrogenase Deficiency." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7545.

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Conference papers on the topic "CoA dehydrogenase (LCAD) deficiency"

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Reis, Victoria Faustino Silva, Joanna Sousa Fonseca Santana, Lara Cordeiro Magalhães, et al. "Recurrent rhabdomyolysis due to long chain Hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report." In SBN Conference 2022. Thieme Revinter Publicações Ltda., 2023. http://dx.doi.org/10.1055/s-0043-1774518.

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Yang, Po Sheng, Viral Upadhyay, Thomas Robertson, Robert Boots, and Robert Henderson. "050 Presence of VGCC antibodies with possible late onset multiple acyl-CoA dehydrogenase deficiency." In ANZAN Annual Scientific Meeting 2021 Abstracts. BMJ Publishing Group Ltd, 2021. http://dx.doi.org/10.1136/bmjno-2021-anzan.50.

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Ille, Vanja, Danijela Petković Ramadža, Tamara Žigman, et al. "104 Hypoketotic hypoglycemia and hyperammonemia as presenting features of early onset multiple acyl-CoA dehydrogenase deficiency." In 10th Europaediatrics Congress, Zagreb, Croatia, 7–9 October 2021. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2021. http://dx.doi.org/10.1136/archdischild-2021-europaediatrics.104.

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Seggewies, F., L. Guilder, R. Olsen, J. Deanfield, S. Olpin, and S. Grünewald. "Riboflavin Nonresponsive Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) with Early Severe Cardiomyopathy: Favorable Long-Term Outcome of a Severe Neonatal Presentation on D,L-3-hydroxybutyrate Supplementation." In 52nd Annual Meeting of the German Society for Pediatric Cardiology. Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1705557.

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