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

Year Number of Results
1928 1
1951 1
1956 1
1960 1
1965 1
1969 1
1972 1
1975 1
1977 1
1980 1
1986 1
1992 1
1993 2
1994 7
1995 4
1996 6
1997 6
1999 8
2000 8
2001 7
2002 7
2003 7
2004 12
2005 10
2006 7
2007 7
2008 6
2009 11
2010 13
2011 14
2012 16
2013 9
2014 8
2015 6
2016 14
2017 11
2018 10
2019 12
2020 13
2021 16
2022 11
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Search Results

248 results
Results by year
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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.
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.
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.
Why digital medicine depends on interoperability.
Lehne M, Sass J, Essenwanger A, Schepers J, Thun S. Lehne M, et al. Among authors: sass j. NPJ Digit Med. 2019 Aug 20;2:79. doi: 10.1038/s41746-019-0158-1. eCollection 2019. NPJ Digit Med. 2019. PMID: 31453374 Free PMC article. Review.
Toolkit for detecting misused epidemiological methods.
Soskolne CL, Kramer S, Ramos-Bonilla JP, Mandrioli D, Sass J, Gochfeld M, Cranor CF, Advani S, Bero LA. Soskolne CL, et al. Among authors: sass j. Environ Health. 2021 Aug 19;20(1):90. doi: 10.1186/s12940-021-00771-6. Environ Health. 2021. PMID: 34412643 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.
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.
Severe retinal degeneration in a patient with Canavan disease.
Benson MD, Plemel DJA, Freund PR, Lewis JR, Sass JO, Bähr L, Gemperle-Britschgi C, Ferreira P, MacDonald IM. Benson MD, et al. Among authors: sass jo. Ophthalmic Genet. 2021 Feb;42(1):75-78. doi: 10.1080/13816810.2020.1827441. Epub 2020 Sep 25. Ophthalmic Genet. 2021. PMID: 32975148
248 results