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

Year Number of Results
1970 2
1971 2
1972 1
1973 1
1976 2
1977 2
1978 2
1979 2
1980 3
1981 1
1982 1
1983 4
1984 5
1985 5
1986 2
1987 7
1988 4
1989 3
1990 3
1991 2
1992 2
1993 3
1994 1
1995 9
1996 12
1997 3
1998 10
1999 9
2000 9
2001 8
2002 5
2003 17
2004 8
2005 9
2006 4
2007 12
2008 5
2009 8
2010 5
2011 10
2012 10
2013 12
2014 13
2015 11
2016 5
2017 4
2018 1
2019 1
2020 2
2022 2
2023 1
2024 0

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251 results

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Page 1
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Morris AA, et al. Among authors: andria g. J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. J Inherit Metab Dis. 2017. PMID: 27778219 Free PMC article. Review.
Isovaleric acidemia.
Pascarella A, Rosa M, della Casa R, Andria G, Parenti G. Pascarella A, et al. Among authors: andria g. J Pediatr Endocrinol Metab. 2011;24(5-6):399. J Pediatr Endocrinol Metab. 2011. PMID: 21823546 No abstract available.
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP, Janosík M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M. Kraus JP, et al. Among authors: andria g. Hum Mutat. 1999;13(5):362-75. doi: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10338090 Review.
Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.
Brunetti-Pierri N, Ferla R, Ginocchio VM, Rossi A, Fecarotta S, Romano R, Parenti G, Yildiz Y, Zancan S, Pecorella V, Dell'Anno M, Graziano M, Alliegro M, Andria G, Santamaria F, Brunetti-Pierri R, Simonelli F, Nigro V, Vargas M, Servillo G, Borgia F, Soscia E, Gargaro M, Funghini S, Tedesco N, Le Brun PR, Rupar CA, Prasad C, O'Callaghan M, Mitchell JJ, Danos O, Marteau JB, Galimberti S, Valsecchi MG, Veron P, Mingozzi F, Fallarino F, la Marca G, Sivri HS, Auricchio A. Brunetti-Pierri N, et al. Among authors: andria g. NEJM Evid. 2022 Jul;1(7):EVIDoa2200052. doi: 10.1056/EVIDoa2200052. Epub 2022 Jun 6. NEJM Evid. 2022. PMID: 38319253 Clinical Trial.
251 results