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

Year Number of Results
1959 6
1960 2
1961 8
1962 7
1963 18
1964 19
1965 18
1966 12
1967 21
1968 21
1969 13
1970 25
1971 27
1972 31
1973 24
1974 20
1975 17
1976 30
1977 11
1978 30
1979 21
1980 16
1981 12
1982 29
1983 29
1984 18
1985 24
1986 18
1987 16
1988 16
1989 23
1990 20
1991 29
1992 22
1993 32
1994 22
1995 17
1996 20
1997 15
1998 20
1999 27
2000 22
2001 24
2002 22
2003 20
2004 24
2005 35
2006 30
2007 32
2008 19
2009 27
2010 29
2011 32
2012 39
2013 50
2014 48
2015 44
2016 56
2017 41
2018 35
2019 44
2020 49
2021 52
2022 57
2023 40
2024 53
2025 56
2026 38

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1,707 results

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Page 1
Branched-chain alpha-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Strauss KA, Carson VJ, Soltys K, Young ME, Bowser LE, Puffenberger EG, Brigatti KW, Williams KB, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Chopko S, Hailey J, Muelly ER, Shellmer DA, Radcliff Z, Rodrigues A, Loeven K, Heaps AD, Mazariegos GV, Morton DH. Strauss KA, et al. Mol Genet Metab. 2020 Mar;129(3):193-206. doi: 10.1016/j.ymgme.2020.01.006. Epub 2020 Jan 16. Mol Genet Metab. 2020. PMID: 31980395 Free article.
Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain alpha-ketoacid dehydrogenase activity, and here delineate essential clinical and biochemical aspects of the maple syrup urine dise …
Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain alpha-ketoacid …
AMINOACIDURIA.
EFRON ML. EFRON ML. N Engl J Med. 1965 May 20;272:1058-67 CONTD. doi: 10.1056/NEJM196505202722006. N Engl J Med. 1965. PMID: 14281543 Review. No abstract available.
Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.
Frazier DM, Allgeier C, Homer C, Marriage BJ, Ogata B, Rohr F, Splett PL, Stembridge A, Singh RH. Frazier DM, et al. Mol Genet Metab. 2014 Jul;112(3):210-7. doi: 10.1016/j.ymgme.2014.05.006. Epub 2014 May 17. Mol Genet Metab. 2014. PMID: 24881969 Free article.
The first guideline to be completed is for maple syrup urine disease (MSUD). This report describes the methodology used in its development: formulation of five research questions; review, critical appraisal and abstraction of peer-reviewed studies and …
The first guideline to be completed is for maple syrup urine disease (MSUD). This report describes the methodolo …
Vomiting-again?
Sethi R, Barshop B, Stucky ER. Sethi R, et al. J Hosp Med. 2007 May;2(3):189-93. doi: 10.1002/jhm.203. J Hosp Med. 2007. PMID: 17551951 Review. No abstract available.
Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders.
Xu J, Jakher Y, Ahrens-Nicklas RC. Xu J, et al. Int J Mol Sci. 2020 Oct 11;21(20):7490. doi: 10.3390/ijms21207490. Int J Mol Sci. 2020. PMID: 33050626 Free PMC article. Review.
Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by decreased activity of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDC), which catalyzes the irreversible catabolism of branched-chain …
Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by decreased activity of the branc …
Neuroprotective, antioxidant and anti-inflammatory effect of carnitine in patients with Maple syrup urine disease: branched-chain amino acids and branched-chain keto acids levels.
Girardi J, Faverzani JL, Lopes FF, Sitta A, de Moura Coelho D, Tedesco LMB, Dornelles N, Wajner M, Vargas CR. Girardi J, et al. Metab Brain Dis. 2025 Nov 15;40(8):314. doi: 10.1007/s11011-025-01747-y. Metab Brain Dis. 2025. PMID: 41240228
Maple syrup urine disease (MSUD) is a genetic disorder of the metabolism of branched-chain amino acids (BCAAs). ...We observed an increase in L-carnitine levels after treatment, which suggests a positive response to supplementation. BCAAs …
Maple syrup urine disease (MSUD) is a genetic disorder of the metabolism of branched-chain amino a …
3.19 Inborn Errors of Metabolism.
Maier EM, Dokoupil K. Maier EM, et al. World Rev Nutr Diet. 2022;124:351-361. doi: 10.1159/000516735. Epub 2022 Mar 3. World Rev Nutr Diet. 2022. PMID: 35240634 Review. No abstract available.
1,707 results