Готові списки джерел за темами / Long-chain-acyl-CoA dehydrogenase

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Добірка наукової літератури з теми "Long-chain-acyl-CoA dehydrogenase"

Автор: Grafiati

Опубліковано: 20 квітня 2024

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Статті в журналах з теми "Long-chain-acyl-CoA dehydrogenase"

Masterson, C., A. Blackburn, and C. Wood. "Acyl-CoA dehydrogenase activity in pea cotyledon tissue during germination and initial growth." Biochemical Society Transactions 28, no. 6 (December 1, 2000): 760–62. http://dx.doi.org/10.1042/bst0280760.

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Acyl-CoA dehydrogenase activity has been measured in homogenates of post-imbibition to 14-day-old hydroponically grown pea seeds at daily intervals, using C4, C12 and C16 acyl-CoA substrates. The activity peaks of the different chain-length acyl-CoA dehydrogenases did not transpose at all points and the ratios of the chain-length activities were not constant. It therefore has to be concluded that more than one dehydrogenase is present in pea mitochondria. There was a post-imbibition initial surge of activity with short- and mid-chain-length substrates. The C16- handling enzyme first peaked at 3–4 days, which coincided with the onset of plumule unfurling and greening. Further peaks were observed with all three substrates, coinciding with secondary root formation and leaf enlargement and later with cotyledon degeneration. Overall activity showed that the long-chain acyl-CoA dehydrogenase was much more active than the short-chain acyl-CoA dehydrogenase.

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Treem, William R., Jeffrey S. Hyams, Charles A. Stanley, Daniel E. Hale, and Harris B. Leopold. "Hypoglycemia, Hypotonia, and Cardiomyopathy: The Evolving Clinical Picture of Long-Chain Acyl-CoA Dehydrogenase Deficiency." Pediatrics 87, no. 3 (March 1, 1991): 328–33. http://dx.doi.org/10.1542/peds.87.3.328.

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Inherited defects in fatty acid oxidation, which have been described and diagnosed with increasing frequency in the last decade, are most commonly attributed to a deficiency in the activity of medium-chain acyl-CoA dehydrogenase. Few cases of the related enzyme defect of long-chain acyl-CoA dehydrogenase activity have been reported. An infant with documented long-chain acyl-CoA dehydrogenase deficiency is described with a detailed metabolic profile, long-term clinical follow-up, and response to treatment. This patient is compared with the seven previously published cases of this disorder in order to stress the unique features of the initial presentation, more subtle late manifestations of the disease, and clinical and biochemical differentiation from the more common medium-chain acyl-CoA dehydrogenase deficiency. This report stresses the enlarging spectrum of the clinical presentation and natural history of this defect in fatty acid oxidation.

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Cox, Keith B., Jian Liu, Liqun Tian, Stephen Barnes, Qinglin Yang, and Philip A. Wood. "Cardiac hypertrophy in mice with long-chain acyl-CoA dehydrogenase or very long-chain acyl-CoA dehydrogenase deficiency." Laboratory Investigation 89, no. 12 (September 7, 2009): 1348–54. http://dx.doi.org/10.1038/labinvest.2009.86.

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Yu, Wenfeng, Xiquan Liang, Regina E. Ensenauer, Jerry Vockley, Lawrence Sweetman та Horst Schulz. "Leaky β-Oxidation of atrans-Fatty Acid". Journal of Biological Chemistry 279, № 50 (4 жовтня 2004): 52160–67. http://dx.doi.org/10.1074/jbc.m409640200.

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The degradation of elaidic acid (9-trans-octadecenoic acid), oleic acid, and stearic acid by rat mitochondria was studied to determine whether the presence of atransdouble bond in place of acisdouble bond or no double bond affects β-oxidation. Rat mitochondria from liver or heart effectively degraded the coenzyme A derivatives of all three fatty acids. However, with elaidoyl-CoA as a substrate, a major metabolite accumulated in the mitochondrial matrix. This metabolite was isolated and identified as 5-trans-tetradecenoyl-CoA. In contrast, little or none of the corresponding metabolites were detected with oleoyl-CoA or stearoyl-CoA as substrates. A kinetic study of long-chain acyl-CoA dehydrogenase (LCAD) and very long-chain acyl-CoA dehydrogenase revealed that 5-trans-tetradecenoyl-CoA is a poorer substrate of LCAD than is 5-cis-tetradecenoyl-CoA, while both unsaturated acyl-CoAs are poor substrates of very long-chain acyl-CoA dehydrogenase when compared with myristoyl-CoA. Tetradecenoic acid and tetradecenoylcarnitine were detected by gas chromatography/mass spectrometry and tandem mass spectrometry, respectively, when rat liver mitochondria were incubated with elaidoyl-CoA but not when oleoyl-CoA was the substrate. These observations support the conclusion that 5-trans-tetradecenoyl-CoA accumulates in the mitochondrial matrix, because it is less efficiently dehydrogenated by LCAD than is itscisisomer and that the accumulation of this β-oxidation intermediate facilitates its hydrolysis and conversion to 5-trans-tetradecenoylcarnitine thereby permitting a partially degraded fatty acid to escape from mitochondria. Analysis of this compromised but functional process provides insight into the operation of β-oxidation in intact mitochondria.

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Wijayabandara, Maheshi, Champika Gamakaranage, and Dineshani Hettiarachchi. "Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka." Case Reports in Genetics 2020 (October 13, 2020): 1–5. http://dx.doi.org/10.1155/2020/8894518.

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Background. Rhabdomyolysis can be either inherited or acquired such as in metabolic myopathies. Very-long-chain acyl-CoA dehydrogenase deficiency is a rare fatty acid oxidation disorder which presents with different phenotypes, and the mild adult form can present as intermittent rhabdomyolysis. Here, we present the first adult case of very-long-chain acyl-CoA dehydrogenase deficiency presenting as rhabdomyolysis in a Sri Lankan patient. Case Presentation. A 36-year-old Sri Lankan man who was born to consanguineous parents presented with severe generalized muscle pain, stiffness, and dark-coloured urine for three days following prolonged low-intensity activity. Since fourteen years of age, he has had multiple similar episodes, where one episode was complicated with acute kidney injury. His eldest brother also suffered from the similar episode. Examination revealed only generalized muscle tenderness without any weakness. His creatine phosphokinase level was above 50,000 IU/L, and he had myoglobinuria. Molecular genetic tests confirmed the diagnosis of very-long-chain acyl-CoA dehydrogenase deficiency. Following a successful recovery devoid of complications, he remained asymptomatic with lifestyle adjustments. Conclusion. Very-long-chain acyl-CoA dehydrogenase deficiency is a rare inherited cause of metabolic myopathy that gives rise to intermittent rhabdomyolysis in adults. Prompt diagnosis is essential to prevent complications and prevent its recurrence.

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Liang, X., W. Le, D. Zhang, and H. Schulz. "Impact of the intramitochondrial enzyme organization on fatty acid oxidation." Biochemical Society Transactions 29, no. 2 (May 1, 2001): 279–82. http://dx.doi.org/10.1042/bst0290279.

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The enzymes of mitochondrial β-oxidation are thought to be organized in at least two functional complexes, a membrane-bound, long-chain-specific β-oxidation system and a matrix system consisting of soluble enzymes with preferences for medium-chain and short-chain substrates. This hypothesis is supported by the observation that the inactivation of long-chain 3-ketoacyl-CoA thiolase by 4-bromotiglic acid (4-bromo-2-methylbut-2-enoic acid) causes the complete inhibition of palmitate β-oxidation even though 3-ketoacyl-CoA thiolase, which acts on 3-ketopalmitoyl-CoA, remains partly active. The observed substrate specificities of long-chain acyl-CoA dehydrogenase (LCAD) and very-long-chain acyl-CoA dehydrogenase prompt the suggestion that LCAD is a functional component of the long-chain-specific β-oxidation system. Altogether, a view is emerging of the organization of β-oxidation enzymes in mitochondria that supports the idea of intermediate channelling and explains the apparent absence of true intermediates of β-oxidation from mitochondria.

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Yamaguchi, Seiji, Yasuhiro Indo, Paul M. Coates, Takashi Hashimoto, and Kay Tanaka. "Identification of Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Three Patients Previously Diagnosed with Long-Chain Acyl-CoA Dehydrogenase Deficiency." Pediatric Research 34, no. 1 (July 1993): 111–13. http://dx.doi.org/10.1203/00006450-199307000-00025.

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Costa, Catarina G., Lambertus Dorland, Ulbe Holwerda, Isabel Tavares de Almeida, Bwee-Tien Poll-The, Cornelis Jakobs та Marinus Duran. "Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid β-oxidation disorders". Clinical Chemistry 44, № 3 (1 березня 1998): 463–71. http://dx.doi.org/10.1093/clinchem/44.3.463.

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Abstract We present a new derivatization procedure for the simultaneous gas chromatographic–mass spectrometric analysis of free fatty acids and 3-hydroxyfatty acids in plasma. Derivatization of target compounds involved trifluoroacetylation of hydroxyl groups and tert-butyldimethylsilylation of the carboxyl groups. This new derivatization procedure had the advantage of allowing the complete baseline separation of free fatty acids and 3-hydroxyfatty acids while the superior gas chromatographic and mass spectrometric properties of tert-butyldimethylsilyl derivatives remained unchanged, permitting a sensitive analysis of the target compounds. Thirty-nine plasma samples from control subjects and patients with known defects of mitochondrial fatty acid β-oxidation were analyzed. A characteristic increase of long-chain 3-hydroxyfatty acids was observed for all of the long-chain 3-hydroxyacyl-CoA dehydrogenase-deficient and mitochondrial trifunctional protein-deficient plasma samples. For medium-chain acyl-CoA dehydrogenase deficiency and very-long-chain acyl-CoA dehydrogenase deficiency, decenoic and tetradecenoic acids, respectively, were the main abnormal fatty acids, whereas the multiple acyl-CoA dehydrogenase-deficient patients showed variable increases of these unusual intermediates. The results showed that this selective and sensitive method is a powerful tool in the diagnosis and monitoring of mitochondrial fatty acid β-oxidation disorders.

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Nandy, Andreas, Volker Kieweg, Franz-Georg Kräutle, Petra Vock, Burkhard Küchler, Peter Bross, Jung-Ja P. Kim, Ihab Rasched, and Sandro Ghisla. "Medium-Long-Chain Chimeric Human Acyl-CoA Dehydrogenase: Medium-Chain Enzyme with the Active Center Base Arrangement of Long-Chain Acyl-CoA Dehydrogenase†." Biochemistry 35, no. 38 (January 1996): 12402–11. http://dx.doi.org/10.1021/bi960785e.

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Parsons, H. G., and V. C. Dias. "Intramitochondrial fatty acid metabolism: riboflavin deficiency and energy production." Biochemistry and Cell Biology 69, no. 7 (July 1, 1991): 490–97. http://dx.doi.org/10.1139/o91-073.

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Inborn errors of fatty acid β-oxidation have contributed significantly to our understanding of intracellular fatty acid metabolism. The first intramitochondrial step in β-oxidation of fatty acyl-CoA of different chain lengths is catalyzed by the three chain length specific acyl-CoA dehydrogenases. Inherited deficiency of these enzymes has been reported. Some are riboflavin responsive. The first step of fatty acid oxidation is reviewed with specific emphasis on β-oxidation in newborn infants, rendered riboflavin deficient by phototherapy. Given that medium chain fatty acids are not stored as triacylglycerols and undergo rapid β-oxidation, they have been proposed as superior substrates compared with long chain triglycerides in times of metabolic stress. This review also examines medium chain triglycerides as an alternate energy source. When medium chain triglycerides were fed as 50% of total energy, glucose sparing was present with little loss of energy as dicarboxylic acids.Key words: β-oxidation, acyl-CoA dehydrogenase, riboflavin, medium chain triglycerides, dicarboxylic acids.

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Більше джерел

Дисертації з теми "Long-chain-acyl-CoA dehydrogenase"

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 was observed in vector-treated mice beginning two weeks post-injection, as characterized by a significant drop in long chain fatty acyl accumulates in whole blood after an overnight fast. Changes persisted through the termination point around 20 weeks post injection. Magnetic resonance spectroscopy (MRS) and tandem mass spectrometry (MS/MS) revealed normalization of intramuscular lipids in treated animals. Correction was not observed in liver tissue extracts, but cardiac muscle extracts showed significant reduction of long chain metabolites. Disease-specific phenotypes were characterized, including thermoregulation and maintenance of euglycemia after a fasting cold challenge. Internal body temperatures of untreated VLCAD-/- mice dropped below 20°C and the mice became lethargic, requiring euthanasia. In contrast all rAAV9-treated VLCAD-/- mice and the wild-type controls maintained body temperatures. rAAV9-treated VLCAD-/- mice maintained euglycemia, whereas untreated VLCAD-/- mice suffered hypoglycemia following a fasting cold challenge. These promising results suggest rAAV9 gene therapy as a potential treatment for VLCAD deficiency in humans.

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Krogmann, Antonia Verfasser], Ute [Gutachter] [Spiekerkötter, and Anselmino Verena [Gutachter] Keitel-. "Der renale Phänotyp beim Very-Long-Chain Acyl-CoA Dehydrogenase- (VLCAD-) Mangel: Studien am VLCAD-/--Mausmodell / Antonia Krogmann ; Gutachter: Ute Spiekerkötter, Verena Keitel- Anselmino." Düsseldorf : Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2020. http://d-nb.info/1217062300/34.

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Wang, Xiao. "Investigation of Anaplerosis from Propionyl-CoA Precursors and Fatty Acid Oxidation in the Brain of VLCAD and Control Mice." Case Western Reserve University School of Graduate Studies / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=case1232676063.

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Tawbeh, Ali. "Dysfonctionnement peroxysomal dans les cellules microgliales BV-2 : vers une meilleure compréhension du processus neurodégénératif dans l'adrénoleucodystrophie liée à l'X." Electronic Thesis or Diss., Bourgogne Franche-Comté, 2023. http://www.theses.fr/2023UBFCI010.

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La microglie agit en tant que sentinelle immunitaire du système nerveux central et joue un rôle crucial dans le maintien de son homéostasie. Les peroxysomes, organites essentiels au métabolisme cellulaire, orchestrent principalement la dégradation d'acides gras à très longue chaîne (AGTLC). L’accumulation des AGTLC est d’ailleurs un marqueur des maladies peroxysomales dont la plus commune est l’adrénoleucodystrophie liée à l’X (X-ALD), une maladie neurodégénérative rare et complexe dans laquelle la microglie est suspectée de jouer un rôle important. La désactivation de gènes peroxysomaux dans les cellules microgliales BV-2 a mis en lumière une relation jusqu'alors non explorée entre l'activité peroxysomale et la plasticité microgliale. Plus précisément, les gènes désactivés incluaient ceux codant pour les transporteurs d'acides gras à très longue chaîne, ABCD1 et ABCD2, ainsi que l'enzyme limitante de la β-oxydation peroxysomale ACOX1. L’analyse transcriptomique et fonctionnelle des cellules mutantes a révélé une signature pathologique microgliale proche de celle retrouvée dans les maladies neurodégénératives les plus répandues. Le défaut peroxysomal impacte le métabolisme lipidique au sens large, les fonctions lysosomales et autophagiques, ainsi que la réponse à une stimulation au lipopolysaccharide incluant la réponse inflammatoire et l’homéostasie redox. Les fonctions de phagocytose et de présentation antigénique à des lymphocytes T sont également modifiées. De plus, les sécrétions de ces cellules microgliales mutantes induisent la mort des lignées cellulaires neuronales et oligodendrocytaires et modifient la morphologie et la fonction des neurones. Si ces résultats doivent être relativisés et confirmés dans la microglie primaire, ils confortent l’hypothèse d’un rôle majeur et précoce de la microglie dans la cascade neurodégénérative observée dans l’X-ALD et valident la microglie et les molécules qu’elle sécrète comme une cible thérapeutique dans les leucodystrophies peroxysomales
Microglia act as the immune sentinel of the central nervous system and play a crucial role in maintaining its homeostasis. Peroxisomes, essential organelles in cellular metabolism, mainly orchestrate the breakdown of very long-chain fatty acids (VLCFAs). The accumulation of VLCFAs is a marker of peroxisomal diseases, the most common of which is X-linked adrenoleukodystrophy (X-ALD), a rare and complex neurodegenerative disease in which microglia are thought to play an important role. The inactivation of peroxisomal genes in BV-2 microglial cells had shed light on a yet unexplored relationship between peroxisomal activity and microglial plasticity. Specifically, knocked-out genes included those encoding the very long-chain fatty acid transporters ABCD1 and ABCD2, as well as the peroxisomal β-oxidation-limiting enzyme ACOX1. Transcriptomic and functional analysis of the mutant cells revealed a disease-associated microglial signature close to that found in the most common neurodegenerative diseases. The peroxisomal defect impacts lipid metabolism in the broad sense, lysosomal and autophagic functions, as well as the response to lipopolysaccharide stimulation, including the inflammatory response and redox homeostasis. The functions of phagocytosis and antigen presentation to T lymphocytes are also altered. In addition, secretions from these mutant microglial cells induce the death of neuronal and oligodendrocyte cell lines and modify the morphology and function of neurons. Although these results need to be confirmed in primary microglia, they support the hypothesis of a major and early role for microglia in the neurodegenerative cascade observed in X-ALD and validate microglia and the molecules they secrete as a therapeutic target in peroxisomal leukodystrophies

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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
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 codificado pelo gene ACADVL. O gene ACADVL, com cerca de 5,4 Kb, está localizado no cromossoma 17p13.1 e contém 2177 bases codificantes. A deficiência em VLCAD (VLCADD) é uma doença clinicamente heterogénea que apresenta três grupos clínicos principais: uma forma cardíaca grave com início na infância, uma forma hipoglicemiante mais ligeira com início na infância e uma forma miopática com início na adolescência/idade adulta. O diagnóstico é muitas vezes complicado devido às características clínicas serem comuns a todas as miopatias metabólicas. Este baseia-se no fenótipo clínico, testes bioquímicos, testes genéticos, e /ou avaliação post-mortem. O número de doentes diagnosticados com VLCADD tem aumentado, no entanto, os estudos ainda são limitados. Os tratamentos descritos consistem em: evitar jejum prolongado; perfusão com glucose no caso de crises metabólicas; terapêutica com carnitina e dieta restrita em ácidos de cadeia longa e rica em hidratos de carbono. Trabalhos recentes apontam ainda para o potencial terapêutico do resveratrol. A terapêutica génica foi já testada in vivo em modelos animais.

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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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Schymik, Ina [Verfasser]. "Der Very-long-chain-Acyl-CoA-Dehydrogenase-(VLCAD)-Mangel in Deutschland / vorgelegt von Ina Schymik." 2008. http://d-nb.info/990026132/34.

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Частини книг з теми "Long-chain-acyl-CoA dehydrogenase"

Schomburg, Dietmar, Margit Salzmann, and Dörte Stephan. "Long-chain-acyl-CoA dehydrogenase." In Enzyme Handbook, 687–89. Berlin, Heidelberg: Springer Berlin Heidelberg, 1993. http://dx.doi.org/10.1007/978-3-642-58051-2_145.

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Leung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "Long-Chain Acyl-CoA Dehydrogenase Deficiency." In Encyclopedia of Molecular Mechanisms of Disease, 1210. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7545.

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Balemans, Wendy, Wim Van Hul, Marian Valko, Jan Moncol, Lee A. Denson, Maria Mela, Ulrich Thalheimer, et al. "Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency." In Encyclopedia of Molecular Mechanisms of Disease, 2202–4. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_3151.

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Obaid, Abdulrahman, Marwan Nashabat, Majid Alfadhel, Ali Alasmari, Fuad Al Mutairi, Abdulrahman Alswaid, Eissa Faqeih, et al. "Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency." In JIMD Reports, 47–53. Berlin, Heidelberg: Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/8904_2017_58.

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Spiekerkoetter, U., M. Mueller, M. Sturm, M. Hofmann, and D. T. Schneider. "Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn Screening." In JIMD Reports, 113–15. Berlin, Heidelberg: Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/8904_2012_129.

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De Biase, Irene, Krista S. Viau, Aiping Liu, Tatiana Yuzyuk, Lorenzo D. Botto, Marzia Pasquali, and Nicola Longo. "Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency." In JIMD Reports, 63–71. Berlin, Heidelberg: Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/8904_2016_558.

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Bouvier, Damien, Christine Vianey-Saban, Séverine Ruet, and Cécile Acquaviva. "Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts." In JIMD Reports, 71–78. Berlin, Heidelberg: Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/8904_2016_22.

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Merinero, B., P. Alcaide, E. Martín-Hernández, A. Morais, M. T. García-Silva, P. Quijada-Fraile, C. Pedrón-Giner, et al. "Four Years’ Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers." In JIMD Reports, 63–74. Berlin, Heidelberg: Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/8904_2017_40.

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Karall, D., G. Mair, U. Albrecht, K. Niedermayr, T. Karall, W. Schobersberger, and S. Scholl-Bürgi. "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, 7–12. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/8904_2014_313.

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"Very long chain acyl CoA dehydrogenase deficiency." In Atlas of Inherited Metabolic Diseases 3E, 289–94. CRC Press, 2011. http://dx.doi.org/10.1201/b15310-44.

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