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

Year Number of Results
1994 6
1995 2
1996 5
1997 3
1999 7
2000 8
2001 5
2002 3
2003 3
2004 8
2005 6
2006 4
2007 3
2008 5
2009 8
2010 13
2011 13
2012 13
2013 7
2014 6
2015 4
2016 7
2017 9
2018 6
2019 4
2020 6
2021 9
2022 6
2023 5
2024 3

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162 results

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Page 1
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A. Baumgartner MR, et al. Among authors: sass jo. Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Orphanet J Rare Dis. 2014. PMID: 25205257 Free PMC article. Review.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR. Forny P, et al. Among authors: sass jo. J Inherit Metab Dis. 2021 May;44(3):566-592. doi: 10.1002/jimd.12370. Epub 2021 Mar 9. J Inherit Metab Dis. 2021. PMID: 33595124 Free PMC article.
Amino Acids and Inherited Amino Acid-Related Disorders.
Knerr I, Bernstein L, Crushell E, O'Sullivan S, Sass JO. Knerr I, et al. Among authors: sass jo. J Nutr Metab. 2018 Sep 10;2018:5629454. doi: 10.1155/2018/5629454. eCollection 2018. J Nutr Metab. 2018. PMID: 30275990 Free PMC article. No abstract available.
Ketone body metabolism and its defects.
Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y. Fukao T, et al. Among authors: sass jo. J Inherit Metab Dis. 2014 Jul;37(4):541-51. doi: 10.1007/s10545-014-9704-9. Epub 2014 Apr 8. J Inherit Metab Dis. 2014. PMID: 24706027 Review.
Gamma-hydroxybutyric acid.
Sass JO, Superti-Furga A. Sass JO, et al. N Engl J Med. 2005 Oct 13;353(15):1632-3. doi: 10.1056/NEJMc052046. N Engl J Med. 2005. PMID: 16221793 No abstract available.
Amino acid metabolism in patients with propionic acidaemia.
Scholl-Bürgi S, Sass JO, Zschocke J, Karall D. Scholl-Bürgi S, et al. Among authors: sass jo. J Inherit Metab Dis. 2012 Jan;35(1):65-70. doi: 10.1007/s10545-010-9245-9. Epub 2010 Nov 27. J Inherit Metab Dis. 2012. PMID: 21113738 Review.
Genetic basis of hyperlysinemia.
Houten SM, Te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Häberle J, Baumgartner MR, Coşkun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M. Houten SM, et al. Among authors: sass jo. Orphanet J Rare Dis. 2013 Apr 9;8:57. doi: 10.1186/1750-1172-8-57. Orphanet J Rare Dis. 2013. PMID: 23570448 Free PMC article.
162 results