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Year Number of Results
1985 1
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1989 1
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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
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2009 2
2010 3
2011 3
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2014 3
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2025 0

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56 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 …
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
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 …
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.
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
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
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 (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.
56 results