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

Year Number of Results
1953 1
1963 1
1964 3
1965 3
1968 4
1969 3
1970 13
1971 7
1972 3
1973 6
1974 4
1975 4
1976 3
1977 5
1978 4
1979 3
1980 8
1982 4
1983 4
1984 3
1985 1
1986 1
1987 5
1988 1
1989 3
1990 3
1991 1
1992 7
1993 8
1994 7
1995 4
1996 4
1997 5
1998 9
1999 4
2000 6
2001 10
2002 11
2003 11
2004 11
2005 13
2006 23
2007 9
2008 8
2009 11
2010 7
2011 15
2012 13
2013 11
2014 16
2015 19
2016 21
2017 13
2018 19
2019 15
2020 20
2021 25
2022 16
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2025 11
2026 6

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460 results

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Page 1
Maple Syrup Urine Disease.
Strauss KA, Puffenberger EG, Carson VJ. Strauss KA, et al. 2006 Jan 30 [updated 2020 Apr 23]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2006 Jan 30 [updated 2020 Apr 23]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301495 Free Books & Documents. Review.
Follow-up plasma amino acid analysis typically demonstrates elevated concentrations of BCAAs and alloisoleucine. The diagnosis of MSUD is confirmed by identification of biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT. ...Carrier testing for at-risk relatives and pr …
Follow-up plasma amino acid analysis typically demonstrates elevated concentrations of BCAAs and alloisoleucine. The diagnosis of MSU …
Adjuvant Fluorouracil, Leucovorin, and Oxaliplatin in Stage II to III Colon Cancer: Updated 10-Year Survival and Outcomes According to BRAF Mutation and Mismatch Repair Status of the MOSAIC Study.
André T, de Gramont A, Vernerey D, Chibaudel B, Bonnetain F, Tijeras-Raballand A, Scriva A, Hickish T, Tabernero J, Van Laethem JL, Banzi M, Maartense E, Shmueli E, Carlsson GU, Scheithauer W, Papamichael D, Möehler M, Landolfi S, Demetter P, Colote S, Tournigand C, Louvet C, Duval A, Fléjou JF, de Gramont A. André T, et al. J Clin Oncol. 2015 Dec 10;33(35):4176-87. doi: 10.1200/JCO.2015.63.4238. Epub 2015 Nov 2. J Clin Oncol. 2015. PMID: 26527776 Clinical Trial.
RESULTS: After a median follow-up of 9.5 years, 10-year OS rates in the bolus/infusional fluorouracil plus leucovorin (LV5FU2) and LV5FU2 plus oxaliplatin (FOLFOX4) arms were 67.1% versus 71.7% (hazard ratio [HR], 0.85; P = .043) in the whole population, 79.5% versus 78.4% for st …
RESULTS: After a median follow-up of 9.5 years, 10-year OS rates in the bolus/infusional fluorouracil plus leucovorin (LV5FU2) and LV5FU2 pl …
Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation.
Deon M, Guerreiro G, Girardi J, Ribas G, Vargas CR. Deon M, et al. Int J Dev Neurosci. 2023 Oct;83(6):489-504. doi: 10.1002/jdn.10283. Epub 2023 Jun 20. Int J Dev Neurosci. 2023. PMID: 37340513 Review.
Maple syrup urine disease (MSUD) is caused by a deficiency in the activity of the branched-chain alpha-ketoacid dehydrogenase (BCKD) complex, promoting the accumulation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine, as well as their respec …
Maple syrup urine disease (MSUD) is caused by a deficiency in the activity of the branched-chain alpha-ketoacid dehydrogenase (BCKD) …
The adverse metabolic effects of branched-chain amino acids are mediated by isoleucine and valine.
Yu D, Richardson NE, Green CL, Spicer AB, Murphy ME, Flores V, Jang C, Kasza I, Nikodemova M, Wakai MH, Tomasiewicz JL, Yang SE, Miller BR, Pak HH, Brinkman JA, Rojas JM, Quinn WJ 3rd, Cheng EP, Konon EN, Haider LR, Finke M, Sonsalla M, Alexander CM, Rabinowitz JD, Baur JA, Malecki KC, Lamming DW. Yu D, et al. Cell Metab. 2021 May 4;33(5):905-922.e6. doi: 10.1016/j.cmet.2021.03.025. Epub 2021 Apr 21. Cell Metab. 2021. PMID: 33887198 Free PMC article.
Reducing valine induces similar but more modest metabolic effects, whereas these effects are absent with low leucine. Reducing isoleucine or valine rapidly restores metabolic health to diet-induced obese mice. Finally, we demonstrate that variation in dietary isoleu …
Reducing valine induces similar but more modest metabolic effects, whereas these effects are absent with low leucine. Reducing isoleu …
Valine metabolites analysis in ECHS1 deficiency.
Kuwajima M, Kojima K, Osaka H, Hamada Y, Jimbo E, Watanabe M, Aoki S, Sato-Shirai I, Ichimoto K, Fushimi T, Murayama K, Ohtake A, Kohda M, Kishita Y, Yatsuka Y, Uchino S, Mimaki M, Miyake N, Matsumoto N, Okazaki Y, Ogata T, Yamagata T, Muramatsu K. Kuwajima M, et al. Mol Genet Metab Rep. 2021 Oct 9;29:100809. doi: 10.1016/j.ymgmr.2021.100809. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34667719 Free PMC article.
The accumulation of intermediate metabolites of valine is assumed to be responsible for the cytotoxicity. Since protein restriction, including valine reportedly improves neurological symptoms, it is essential to consider the possible incidence of and diagnose …
The accumulation of intermediate metabolites of valine is assumed to be responsible for the cytotoxicity. Since protein restriction, …
Isolated Methylmalonic Acidemia.
Manoli I, Sloan JL, Venditti CP. Manoli I, et al. 2005 Aug 16 [updated 2022 Sep 8]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2005 Aug 16 [updated 2022 Sep 8]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301409 Free Books & Documents. Review.
Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. ...In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less …
Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis …
Dihydrolipoamide Dehydrogenase Deficiency.
Quinonez SC, Thoene JG. Quinonez SC, et al. 2014 Jul 17 [updated 2021 Sep 30]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2014 Jul 17 [updated 2021 Sep 30]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 25032271 Free Books & Documents. Review.
Individuals with the myopathic presentation may experience muscle cramps, weakness, and an elevated creatine kinase. DIAGNOSIS/TESTING: The diagnosis of dihydrolipoamide dehydrogenase deficiency (DLD) is established in a proband with suggestive clinical and s …
Individuals with the myopathic presentation may experience muscle cramps, weakness, and an elevated creatine kinase. DIAGNOSIS/TESTIN …
3-Hydroxyisobutyryl-CoA Hydrolase Deficiency.
Abdenur J, Barrick R. Abdenur J, et al. 2025 Nov 20 [updated 2026 Feb 12]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2025 Nov 20 [updated 2026 Feb 12]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 41264763 Free Books & Documents. Review.
Late onset is the second most common phenotype, presenting in childhood as a slowly progressive disease with significant movement disorder with or without paroxysmal dystonia, variable cognitive impairment, and high survivability. DIAGNOSIS/TESTING: The diagnosis of …
Late onset is the second most common phenotype, presenting in childhood as a slowly progressive disease with significant movement disorder w …
Methymalonic aciduria.
Gompertz D, Hoffbrand AV. Gompertz D, et al. Br J Haematol. 1970 Apr;18(4):377-81. doi: 10.1111/j.1365-2141.1970.tb01451.x. Br J Haematol. 1970. PMID: 4911887 Review. No abstract available.
Branched-Chain Amino Acid Catabolism Promotes Thrombosis Risk by Enhancing Tropomodulin-3 Propionylation in Platelets.
Xu Y, Jiang H, Li L, Chen F, Liu Y, Zhou M, Wang J, Jiang J, Li X, Fan X, Zhang L, Zhang J, Qiu J, Wu Y, Fang C, Sun H, Liu J. Xu Y, et al. Circulation. 2020 Jul 7;142(1):49-64. doi: 10.1161/CIRCULATIONAHA.119.043581. Epub 2020 Mar 23. Circulation. 2020. PMID: 32200651
BACKGROUND: Branched-chain amino acids (BCAAs), essential nutrients including leucine, isoleucine, and valine, serve as a resource for energy production and the regulator of important nutrient and metabolic signals. ...Protein phosphatase 2Cm deficiency significantl …
BACKGROUND: Branched-chain amino acids (BCAAs), essential nutrients including leucine, isoleucine, and valine, serve as a resource fo …
460 results