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Results by year

Year	Number of Results
1968	1
1969	1
1970	2
1973	1
1974	3
1975	5
1976	8
1977	6
1978	4
1979	11
1980	13
1981	12
1982	10
1983	16
1984	9
1985	16
1986	11
1987	14
1988	17
1989	19
1990	29
1991	15
1992	28
1993	30
1994	32
1995	33
1996	21
1997	38
1998	25
1999	29
2000	50
2001	49
2002	52
2003	45
2004	38
2005	64
2006	73
2007	70
2008	79
2009	68
2010	85
2011	88
2012	82
2013	113
2014	120
2015	119
2016	133
2017	128
2018	163
2019	153
2020	185
2021	177
2022	193
2023	148
2024	44

2,658 results

Page of 266

Results by year

Page 1

[Classical phenylketonuria. Metabolism inborn errors].

Rovira Magariños MJ, Díaz Quiñoa P, Moreno Saavedra E, Seijas Vázquez M, Doval Penelo MT. Rovira Magariños MJ, et al. Rev Enferm. 2001 Apr;24(4):257-8, 261-4. Rev Enferm. 2001. PMID: 12033143 Spanish.

Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.

Belaramani KM, Chan TCH, Hau EWL, Yeung MCW, Kwok AMK, Lo IFM, Law THF, Wu H, Wong SSN, Lam SW, Ha GHY, Lau TPY, Wong TK, Or VWC, Wong RMS, Ming WL, Chow JCK, Yau EKC, Fu A, Chong JSC, Yau HC, Poon GWK, Ng KL, Chan KT, Lam YY, Hui J, Mak CM, Fung CW. Belaramani KM, et al. Int J Neonatal Screen. 2024 Mar 11;10(1):23. doi: 10.3390/ijns10010023. Int J Neonatal Screen. 2024. PMID: 38535127 Free PMC article.

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.

Chan TCH, Mak CM, Yeung MCW, Law EC, Cheung J, Wong TK, Cheng VW, Lee JKH, Wong JCL, Fung CW, Belaramani KM, Kwok AMK, Tsang KY. Chan TCH, et al. Int J Neonatal Screen. 2024 Mar 5;10(1):19. doi: 10.3390/ijns10010019. Int J Neonatal Screen. 2024. PMID: 38535123 Free PMC article.

Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.

Oliva C, Arias A, Ruiz-Sala P, Garcia-Villoria J, Carling R, Bierau J, Ruijter GJG, Casado M, Ormazabal A, Artuch R. Oliva C, et al. Clin Chem Lab Med. 2024 Mar 11. doi: 10.1515/cclm-2023-1291. Online ahead of print. Clin Chem Lab Med. 2024. PMID: 38456798

A treatable inborn error of metabolism presenting in the sixth decade.

Martin SJ, Davidson A, Murdoch S, Selvarajah J. Martin SJ, et al. BMJ Case Rep. 2024 Feb 21;17(2):e256053. doi: 10.1136/bcr-2023-256053. BMJ Case Rep. 2024. PMID: 38383131

Odimet^®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism-An Assessment of Its Effectiveness during the COVID Pandemic.

Sánchez-Pintos P, Camba-Garea MJ, López-Pardo BM, Couce ML. Sánchez-Pintos P, et al. Nutrients. 2024 Jan 31;16(3):423. doi: 10.3390/nu16030423. Nutrients. 2024. PMID: 38337708 Free PMC article.

Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol.

Zharmakhanova G, Kononets V, Balmagambetova S, Syrlybayeva L, Nurbaulina E, Zhussupova Z, Sakhanova S, Ayaganov D, Kim S, Zhumalina A. Zharmakhanova G, et al. Front Genet. 2024 Jan 12;14:1278750. doi: 10.3389/fgene.2023.1278750. eCollection 2023. Front Genet. 2024. PMID: 38283151 Free PMC article.

[Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China].

Zhang C, Hui L, Zhou BB, Zheng L, Wang YP, Hao SJ, DA ZQ, Ma Y, Guo JX, Cao ZF, Ma X. Zhang C, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2024 Jan 15;26(1):67-71. doi: 10.7499/j.issn.1008-8830.2308094. Zhongguo Dang Dai Er Ke Za Zhi. 2024. PMID: 38269462 Free PMC article. Chinese.

An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism.

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