Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 2
1976 2
1978 3
1979 2
1980 7
1981 3
1982 4
1983 5
1984 15
1985 16
1986 16
1987 26
1988 32
1989 21
1990 55
1991 46
1992 67
1993 61
1994 40
1995 49
1996 36
1997 37
1998 55
1999 48
2000 44
2001 52
2002 50
2003 54
2004 47
2005 55
2006 77
2007 64
2008 64
2009 56
2010 91
2011 71
2012 80
2013 72
2014 87
2015 81
2016 86
2017 71
2018 88
2019 95
2020 103
2021 97
2022 83
2023 73
2024 31

Text availability

Article attribute

Article type

Publication date

Search Results

2,204 results

Results by year

Filters applied: . Clear all
Page 1
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
BACKGROUND: Evidence to guide treatment of pediatric medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency and phenylketonuria (PKU) is fragmented because of large variability in outcome selection and measurement. ...Voting by 18 workshop participants …
BACKGROUND: Evidence to guide treatment of pediatric medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency and p …
Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.
Nochi Z, Olsen RKJ, Gregersen N. Nochi Z, et al. J Inherit Metab Dis. 2017 Sep;40(5):641-655. doi: 10.1007/s10545-017-0047-1. Epub 2017 May 17. J Inherit Metab Dis. 2017. PMID: 28516284 Review.
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an inherited disorder of mitochondrial fatty acid oxidation that is characterized by the presence of increased butyrylcarnitine and ethylmalonic acid (EMA) concentrations in plasma and urine. ...
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an inherited disorder of mitochondrial fatty acid oxida …
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.
We began the process of establishing pediatric COSs for two IMDs, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU), by reviewing published literature to describe outcomes reported by authors, identify heterogeneity in out …
We began the process of establishing pediatric COSs for two IMDs, medium-chain acyl-CoA dehydrogenase (MCAD) deficie …
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.
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 common causes o …
Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.
Matsubara Y, Narisawa K, Tada K. Matsubara Y, et al. Eur J Pediatr. 1992 Mar;151(3):154-9. doi: 10.1007/BF01954373. Eur J Pediatr. 1992. PMID: 1601002 Review.
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder which is known to cause Reye-like syndrome in children and sudden infant death. ...Since presymptomatic diagnosis and appropriate dietary management are important …
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder which is known to cause …
Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model.
Zhao XJ, Mohsen AW, Mihalik S, Solo K, Basu S, Aliu E, Shi H, Kochersberger C, Karunanidhi A, Van't Land C, Coughlan KA, Siddiqui S, Rice LM, Hillier S, Guadagnin E, DeAntonis C, Giangrande PH, Martini PGV, Vockley J. Zhao XJ, et al. Hum Mol Genet. 2023 Jul 4;32(14):2347-2356. doi: 10.1093/hmg/ddad076. Hum Mol Genet. 2023. PMID: 37162351
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of mitochondrial fatty acid beta-oxidation (FAO) in humans. ...Results from this study support the potential therapeutic value of hMCAD mRNA-LNP complex treatme …
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of mitochondrial fat …
Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency.
Karunanidhi A, Basu S, Zhao XJ, D'Annibale O, Van't Land C, Vockley J, Mohsen AW. Karunanidhi A, et al. Mol Genet Metab. 2023 Nov;140(3):107689. doi: 10.1016/j.ymgme.2023.107689. Epub 2023 Aug 25. Mol Genet Metab. 2023. PMID: 37660571
Triheptanoin (triheptanoylglycerol) has shown value as anaplerotic therapy for patients with long chain fatty acid oxidation disorders but is contraindicated in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. In search for anaplerotic therapy fo …
Triheptanoin (triheptanoylglycerol) has shown value as anaplerotic therapy for patients with long chain fatty acid oxidation disorders but i …
Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism.
Houten SM, Dodatko T, Dwyer W, Violante S, Chen H, Stauffer B, DeVita RJ, Vaz FM, Cross JR, Yu C, Leandro J. Houten SM, et al. J Inherit Metab Dis. 2023 Sep;46(5):931-942. doi: 10.1002/jimd.12642. Epub 2023 Jun 19. J Inherit Metab Dis. 2023. PMID: 37309295
Deficiencies of these acyl-CoA dehydrogenase (ACAD) enzymes are considered biochemical abnormalities with limited or no clinical consequences. ...Using analysis of acylcarnitine isomers, we show that 2-methylenecyclopropaneacetic acid (MCPA) inhibited …
Deficiencies of these acyl-CoA dehydrogenase (ACAD) enzymes are considered biochemical abnormalities with limite …
Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
Lang TF. Lang TF. J Inherit Metab Dis. 2009 Dec;32(6):675-683. doi: 10.1007/s10545-009-1202-0. Epub 2009 Oct 11. J Inherit Metab Dis. 2009. PMID: 19821147 Review.
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of mitochondrial fatty acid oxidation which is usually diagnosed in infancy or through neonatal screening. ...
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of mitochondrial fatty …
2,204 results