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
1985 1
1987 2
1989 1
1990 1
1991 1
1992 8
1993 2
1994 2
1995 2
1996 1
1998 3
1999 2
2001 1
2002 1
2003 2
2004 1
2005 1
2006 3
2007 1
2008 3
2009 2
2010 3
2011 3
2012 2
2013 1
2014 3
2015 1
2017 1
2018 1
2020 1
2021 1
2022 3
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

57 results

Results by year

Filters applied: . Clear all
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 (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management].
Feillet F, Ogier H, Cheillan D, Aquaviva C, Labarthe F, Baruteau J, Chabrol B, de Lonlay P, Valayanopoulos V, Garnotel R, Dobbelaere D, Briand G, Jeannesson E, Vassault A, Vianey-Saban C; SFEIM (Société française pour l’étude des erreurs innées du métabolisme). Feillet F, et al. Arch Pediatr. 2012 Feb;19(2):184-93. doi: 10.1016/j.arcped.2011.10.025. Epub 2012 Jan 12. Arch Pediatr. 2012. PMID: 22244319 French.
Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.
Rinaldo P. Rinaldo P. Dig Dis Sci. 1999 Aug;44(8 Suppl):97S-102S. Dig Dis Sci. 1999. PMID: 10490047 Review.
Although our understanding of the biochemical and molecular bases of these disorders has improved dramatically in recent years, many patients remain undetected or are given other diagnoses, cyclic vomiting syndrome (CVS) being one of them in a few known cases. Medium ch
Although our understanding of the biochemical and molecular bases of these disorders has improved dramatically in recent years, many patient …
Gene variants predisposing to SIDS: current knowledge.
Opdal SH, Rognum TO. Opdal SH, et al. Forensic Sci Med Pathol. 2011 Mar;7(1):26-36. doi: 10.1007/s12024-010-9182-9. Epub 2010 Jul 11. Forensic Sci Med Pathol. 2011. PMID: 20623341 Review.
Genetic risk factors play a role in sudden unexpected infant death; either as a cause of death, such as in cases with medium-chain acyl-coenzyme A dehydrogenase deficiency and cardiac arrest due to long QT syndrome, or as predispos …
Genetic risk factors play a role in sudden unexpected infant death; either as a cause of death, such as in cases with medium-chain
Medium chain acyl-coenzyme A dehydrogenase deficiency.
Bennett MJ, Hale DE. Bennett MJ, et al. N J Med. 1992 Sep;89(9):675-8. N J Med. 1992. PMID: 1436730 Review.
Medium chain acyl-coenzyme A dehydrogenase deficiency (MCADD) was the first metabolic disorder found to be associated with sudden infant death syndrome. ...
Medium chain acyl-coenzyme A dehydrogenase deficiency (MCADD) was the first metabolic disor
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-coenzyme A dehydrogenase deficiency and SIDS.
Hegyi T, Ostfeld B, Gardner K. Hegyi T, et al. N J Med. 1992 May;89(5):385-92. N J Med. 1992. PMID: 1635678 Review.
Medium chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is a potentially fatal genetic defect in fatty acid metabolism and may account for a proportion of all deaths initially attributed to sudden infant death syndrome (SIDS)
Medium chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is a potentially fatal geneti
Newborn screening.
Wilcken B, Wiley V. Wilcken B, et al. Pathology. 2008 Feb;40(2):104-15. doi: 10.1080/00313020701813743. Pathology. 2008. PMID: 18203033 Review.
The most important disorders screened for are described briefly: phenylketonuria, primary congenital hypothyroidism, cystic fibrosis, the galactosaemias, medium-chain acyl-CoA dehydrogenase deficiency, glutaryl-CoA dehydrogenase deficienc …
The most important disorders screened for are described briefly: phenylketonuria, primary congenital hypothyroidism, cystic fibrosis, the ga …
The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population.
Schatz UA, Ensenauer R. Schatz UA, et al. J Inherit Metab Dis. 2010 Oct;33(5):513-20. doi: 10.1007/s10545-010-9115-5. Epub 2010 Jun 8. J Inherit Metab Dis. 2010. PMID: 20532824 Review.
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common fatty acid oxidation disorder. ...
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common fatty acid oxidation dis
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
57 results