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473 results

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Page 1
Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.
Mason E, Hindmarch CCT, Dunham-Snary KJ. Mason E, et al. Endocrinol Diabetes Metab. 2023 Jan;6(1):e385. doi: 10.1002/edm2.385. Epub 2022 Oct 27. Endocrinol Diabetes Metab. 2023. PMID: 36300606 Free PMC article. Review.
INTRODUCTION: Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is the most common inherited metabolic disorder of beta-oxidation. ...
INTRODUCTION: Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is the most common inherited …
Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
Ibrahim SY, Vaqar S, Temtem T. Ibrahim SY, et al. 2024 Feb 29. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2024 Feb 29. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 32809672 Free Books & Documents.
FAODs are categorized by the length of the fatty acid chain affected by each disorder. Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a prevalent FAOD that affects fatty acid chains of C6 to C12 length. ...
FAODs are categorized by the length of the fatty acid chain affected by each disorder. Medium-chain acyl-CoA …
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, Geraghty MT, Irwin JK, Mitchell JJ, Stockler S, Nicholls SG, Offringa M, Rahman A, Tessier LA, Butcher NJ, Iverson R, Lamoureux M, Clifford TJ, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Jain Ghai S, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Pediatrics. 2021 Aug;148(2):e2020037747. doi: 10.1542/peds.2020-037747. Epub 2021 Jul 15. Pediatrics. 2021. PMID: 34266901
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N. Andresen BS, et al. Am J Hum Genet. 1999 Feb;64(2):479-94. doi: 10.1086/302261. Am J Hum Genet. 1999. PMID: 9973285 Free PMC article.
This clear genotype-phenotype relationship is in sharp contrast to what has been observed in medium-chain acyl-CoA dehydrogenase deficiency, in which no correlation between genotype and phenotype can be established....
This clear genotype-phenotype relationship is in sharp contrast to what has been observed in medium-chain acyl-CoA …
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Rahman A, Chakraborty P, Geraghty MT, Irwin J, Tessier L, Nicholls SG, Offringa M, Butcher NJ, Iverson R, Clifford TJ, Stockler S, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Ghai SJ, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Mitchell JJ, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Orphanet J Rare Dis. 2020 Jan 14;15(1):12. doi: 10.1186/s13023-019-1276-1. Orphanet J Rare Dis. 2020. PMID: 31937333 Free PMC article. Review.
Medium chain acyl-CoA dehydrogenase deficiency.
Touma EH, Charpentier C. Touma EH, et al. Arch Dis Child. 1992 Jan;67(1):142-5. doi: 10.1136/adc.67.1.142. Arch Dis Child. 1992. PMID: 1739332 Free PMC article. Review.
From 65 reported cases of medium chain acyl-CoA dehydrogenase deficiency, we found an average presenting age of 13.5 months and a mean age at death of 18.5 months. ...
From 65 reported cases of medium chain acyl-CoA dehydrogenase deficiency, we found an average pres …
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) precipitating unexpected death in an infant: Report of a case and a brief review of literature.
Kazemi T, Firgau E, Bunch D, Kahwash SB. Kazemi T, et al. Malays J Pathol. 2022 Dec;44(3):523-526. Malays J Pathol. 2022. PMID: 36591720 Free article. Review.
Medium-chain acyl CoA dehydrogenase deficiency (MCADD) and other inborn errors of metabolism are common causes of Sudden Unexpected Deaths in Infancy (SUDI). ...
Medium-chain acyl CoA dehydrogenase deficiency (MCADD) and other inborn errors of metabolism are c …
Medium-chain acyl-CoA dehydrogenase deficiency.
Stanley CA, Hale DE, Coates PM. Stanley CA, et al. Prog Clin Biol Res. 1990;321:291-302. Prog Clin Biol Res. 1990. PMID: 2183236 Review. No abstract available.
473 results