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Year Number of Results
1994 6
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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
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2017 9
2018 6
2019 4
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168 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. 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. 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. 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.
Ketone body metabolism and its defects.
Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y. Fukao T, et al. 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.
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. 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.
Screening for hypophosphatasia: does biochemistry lead the way?
Held CM, Guebelin A, Krebs A, Sass JO, Wurm M, Lausch E, van der Werf-Grohmann N, Schwab KO. Held CM, et al. J Pediatr Endocrinol Metab. 2021 Sep 22;35(2):169-178. doi: 10.1515/jpem-2021-0104. Print 2022 Feb 23. J Pediatr Endocrinol Metab. 2021. PMID: 34551461
168 results