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

Year Number of Results
1976 1
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1980 6
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1982 1
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1984 14
1985 14
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1987 24
1988 28
1989 19
1990 50
1991 44
1992 58
1993 53
1994 37
1995 41
1996 30
1997 32
1998 50
1999 44
2000 37
2001 45
2002 43
2003 39
2004 34
2005 43
2006 61
2007 49
2008 50
2009 44
2010 74
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2012 56
2013 45
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2015 60
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2021 68
2022 54
2023 46
2024 16

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1,704 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
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 w …
BACKGROUND: Evidence to guide treatment of pediatric medium-chain acyl-coenzyme A dehydrogenase (MCAD) …
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 hM …
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder …
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 …
We began the process of establishing pediatric COSs for two IMDs, medium-chain acyl-CoA dehydrogenase ( …
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 a …
Triheptanoin (triheptanoylglycerol) has shown value as anaplerotic therapy for patients with long chain fatty acid oxidation disorders but i …
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
Tucci S, Wagner C, Grünert SC, Matysiak U, Weinhold N, Klein J, Porta F, Spada M, Bordugo A, Rodella G, Furlan F, Sajeva A, Menni F, Spiekerkoetter U. Tucci S, et al. J Inherit Metab Dis. 2021 Jul;44(4):916-925. doi: 10.1002/jimd.12368. Epub 2021 Feb 25. J Inherit Metab Dis. 2021. PMID: 33580884
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common defect of mitochondrial beta-oxidation. ...From April 2013 to August 2019, in 388 individuals with characteristic acylcarnitine profiles suggestive of MCADD the oct …
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common defect of mitochondrial …
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. ...Main etiologies of primary HypoPT were excluded, so it was sus …
CASE PRESENTATION: We present a 15-year-old girl with a previous diagnosis of medium-chain acyl-CoA dehydroge …
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. ...Patients with this type of mutation have a variety of sympt …
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder wh …
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
Jager EA, Kuijpers MM, Bosch AM, Mulder MF, Gozalbo ER, Visser G, de Vries M, Williams M, Waterham HR, van Spronsen FJ, Schielen PCJI, Derks TGJ. Jager EA, et al. J Inherit Metab Dis. 2019 Sep;42(5):890-897. doi: 10.1002/jimd.12102. Epub 2019 May 16. J Inherit Metab Dis. 2019. PMID: 31012112
To evaluate the Dutch newborn screening (NBS) for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency since 2007, a nationwide retrospective, observational study was performed of clinical, laboratory and epidemiological parameter …
To evaluate the Dutch newborn screening (NBS) for medium-chain acyl-CoA dehydrogenase (MCAD) de …
[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.
MCAD deficiency is the most common fatty acid oxidation disorder, with the prevalence varying from 1/10,000 to 1/27,000 in the countries adjacent to France. As the High Authority for Health has recently proposed including MCAD deficiency in the panel o …
MCAD deficiency is the most common fatty acid oxidation disorder, with the prevalence varying from 1/10,000 to 1/27,000 in the …
1,704 results