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

Year Number of Results
1963 3
1964 9
1965 17
1966 18
1967 40
1968 46
1969 45
1970 36
1971 51
1972 47
1973 43
1974 39
1975 31
1976 35
1977 29
1978 29
1979 32
1980 34
1981 26
1982 34
1983 23
1984 32
1985 30
1986 32
1987 20
1988 25
1989 25
1990 27
1991 29
1992 38
1993 34
1994 30
1995 27
1996 57
1997 56
1998 64
1999 46
2000 51
2001 61
2002 45
2003 41
2004 47
2005 66
2006 51
2007 48
2008 41
2009 44
2010 69
2011 51
2012 64
2013 66
2014 74
2015 76
2016 52
2017 63
2018 72
2019 64
2020 88
2021 81
2022 65
2023 55
2024 52
2025 18

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2,555 results

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Page 1
Homocystinuria and ocular complications - A review.
Rahman M, Sharma M, Aggarwal P, Singla S, Jain N. Rahman M, et al. Indian J Ophthalmol. 2022 Jul;70(7):2272-2278. doi: 10.4103/ijo.IJO_309_22. Indian J Ophthalmol. 2022. PMID: 35791106 Free PMC article. Review.
Homocystinuria is a rare metabolic inborn disorder caused due to dysfunctional cystathionine beta-synthase (CBS) enzyme activity, thus resulting in elevated levels of methionine and homocysteine in the blood and urine. ...This review aims to present the ophthalmic spectrum …
Homocystinuria is a rare metabolic inborn disorder caused due to dysfunctional cystathionine beta-synthase (CBS) enzyme activity, thu …
Homocystinuria: a commentary.
Ryan A, Twomey PJ. Ryan A, et al. J Clin Pathol. 2023 Mar;76(3):153-155. doi: 10.1136/jcp-2022-208606. Epub 2022 Dec 2. J Clin Pathol. 2023. PMID: 36460459 No abstract available.
Homocystinuria.
Przyrembel H. Przyrembel H. Ergeb Inn Med Kinderheilkd. 1982;49:77-135. doi: 10.1007/978-3-642-68543-9_2. Ergeb Inn Med Kinderheilkd. 1982. PMID: 7049692 Review. No abstract available.
Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria.
Majtan T, Kožich V, Kruger WD. Majtan T, et al. Br J Pharmacol. 2023 Feb;180(3):264-278. doi: 10.1111/bph.15991. Epub 2022 Dec 8. Br J Pharmacol. 2023. PMID: 36417581 Free PMC article. Review.
Cystathionine beta-synthase (CBS)-deficient homocystinuria (HCU) is the most common inborn error of sulfur amino acid metabolism. The pyridoxine non-responsive form of the disease manifests itself by massively increasing plasma and tissue concentrations of homocysteine, a …
Cystathionine beta-synthase (CBS)-deficient homocystinuria (HCU) is the most common inborn error of sulfur amino acid metabolism. The …
Homocystinuria: pathogenetic mechanisms.
Grieco AJ. Grieco AJ. Am J Med Sci. 1977 Mar-Apr;273(2):120-32. Am J Med Sci. 1977. PMID: 324277 Review.
Homocystinuria with elevated plasma homocysteine and methionine levels is the result of deficient activity of cystathionine synthetase, the enzyme catalyzing conversion of homocysteine to cystathionine. ...Administration of azaribine produces homocystinuria by mecha …
Homocystinuria with elevated plasma homocysteine and methionine levels is the result of deficient activity of cystathionine synthetas …
The Spectrum of Mutations of Homocystinuria in the MENA Region.
Al-Sadeq DW, Nasrallah GK. Al-Sadeq DW, et al. Genes (Basel). 2020 Mar 20;11(3):330. doi: 10.3390/genes11030330. Genes (Basel). 2020. PMID: 32245022 Free PMC article. Review.
Homocystinuria is an inborn error of metabolism due to the deficiency in cystathionine beta-synthase (CBS) enzyme activity. ...Approximately 87% of all CBS mutations are missense and do not target the CBS catalytic site, but rather result in unstable misfolded proteins lac …
Homocystinuria is an inborn error of metabolism due to the deficiency in cystathionine beta-synthase (CBS) enzyme activity. ...Approx …
Homocystinuria.
Cusworth DC, Dent CE. Cusworth DC, et al. Br Med Bull. 1969 Jan;25(1):42-7. doi: 10.1093/oxfordjournals.bmb.a070668. Br Med Bull. 1969. PMID: 5782757 No abstract available.
Homocystinuria.
Field CM. Field CM. Dev Med Child Neurol. 1968 Dec;10(6):792-3. doi: 10.1111/j.1469-8749.1968.tb02981.x. Dev Med Child Neurol. 1968. PMID: 5715657 No abstract available.
HOMOCYSTINURIA.
JACKSON RH. JACKSON RH. Br Med J. 1963 Dec 14;2(5371):1485. Br Med J. 1963. PMID: 14063066 Free PMC article. No abstract available.
2,555 results