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

Year Number of Results
1954 2
1956 2
1957 1
1958 1
1961 1
1963 1
1964 2
1965 2
1967 2
1968 1
1969 1
1970 4
1971 4
1972 3
1973 2
1974 2
1975 14
1976 12
1977 13
1978 17
1979 14
1980 30
1981 32
1982 25
1983 50
1984 70
1985 57
1986 60
1987 83
1988 83
1989 61
1990 121
1991 98
1992 140
1993 139
1994 100
1995 133
1996 113
1997 112
1998 118
1999 126
2000 123
2001 136
2002 111
2003 134
2004 133
2005 150
2006 180
2007 167
2008 143
2009 142
2010 194
2011 179
2012 180
2013 199
2014 201
2015 188
2016 172
2017 161
2018 187
2019 207
2020 210
2021 206
2022 176
2023 160
2024 68

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5,484 results

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Page 1
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 oxidation th …
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.
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 outcomes a …
We began the process of establishing pediatric COSs for two IMDs, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency …
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 Free PMC article.
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of mitochondrial fatty acid beta-oxidation (FAO) in humans. ...
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of mitochondrial fatty acid …
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. ...
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder which is known to cause Reye-l …
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 for patie …
Triheptanoin (triheptanoylglycerol) has shown value as anaplerotic therapy for patients with long chain fatty acid oxidation disorders but i …
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 acid o …
Hypoparathyroidism and medium-chain Acyl-CoA dehydrogenase deficiency, an unusual association.
Huguet I, Díaz-Guerra GM. Huguet I, et al. J Pediatr Endocrinol Metab. 2023 Mar 28;36(5):505-507. doi: 10.1515/jpem-2023-0011. Print 2023 May 25. J Pediatr Endocrinol Metab. 2023. PMID: 36972207
CASE PRESENTATION: We present a 15-year-old girl with a previous diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to G985A homozygous mutation. ...
CASE PRESENTATION: We present a 15-year-old girl with a previous diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD …
5,484 results

Searches related to "acyl coa dehydrogenase"