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

Year Number of Results
1975 1
1977 3
1978 1
1979 1
1980 1
1983 1
1984 1
1985 3
1986 2
1987 2
1988 5
1989 5
1990 2
1991 4
1992 12
1993 13
1994 11
1995 8
1996 10
1997 10
1998 15
1999 5
2000 12
2001 13
2002 8
2003 14
2004 13
2005 14
2006 11
2007 10
2008 13
2009 11
2010 16
2011 14
2012 8
2013 7
2014 5
2015 7
2016 8
2017 12
2018 15
2019 13
2020 8
2021 10
2022 4
Text availability
Article attribute
Article type
Publication date

Search Results

338 results
Results by year
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Page 1
Phenylketonuria.
van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM. van Spronsen FJ, et al. Among authors: blau n. Nat Rev Dis Primers. 2021 May 20;7(1):36. doi: 10.1038/s41572-021-00267-0. Nat Rev Dis Primers. 2021. PMID: 34017006 Free PMC article. Review.
Phenylketonuria.
Blau N, van Spronsen FJ, Levy HL. Blau N, et al. Lancet. 2010 Oct 23;376(9750):1417-27. doi: 10.1016/S0140-6736(10)60961-0. Lancet. 2010. PMID: 20971365 Review.
The complete European guidelines on phenylketonuria: diagnosis and treatment.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ. van Wegberg AMJ, et al. Among authors: blau n. Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. Orphanet J Rare Dis. 2017. PMID: 29025426 Free PMC article. Review.
A noncoding RNA modulator potentiates phenylalanine metabolism in mice.
Li Y, Tan Z, Zhang Y, Zhang Z, Hu Q, Liang K, Jun Y, Ye Y, Li YC, Li C, Liao L, Xu J, Xing Z, Pan Y, Chatterjee SS, Nguyen TK, Hsiao H, Egranov SD, Putluri N, Coarfa C, Hawke DH, Gunaratne PH, Tsai KL, Han L, Hung MC, Calin GA, Namour F, Guéant JL, Muntau AC, Blau N, Sutton VR, Schiff M, Feillet F, Zhang S, Lin C, Yang L. Li Y, et al. Among authors: blau n. Science. 2021 Aug 6;373(6555):662-673. doi: 10.1126/science.aba4991. Science. 2021. PMID: 34353949
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: blau n. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T. Wassenberg T, et al. Among authors: blau n. Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Orphanet J Rare Dis. 2017. PMID: 28100251 Free PMC article. Review.
A proposed nosology of inborn errors of metabolism.
Ferreira CR, van Karnebeek CDM, Vockley J, Blau N. Ferreira CR, et al. Among authors: blau n. Genet Med. 2019 Jan;21(1):102-106. doi: 10.1038/s41436-018-0022-8. Epub 2018 Jun 8. Genet Med. 2019. PMID: 29884839 Free PMC article.
338 results