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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 1 |
2021 | 3 |
2022 | 2 |
2024 | 0 |
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5 results
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Page 1
Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening.
Int J Neonatal Screen. 2020 Jul 30;6(3):60. doi: 10.3390/ijns6030060.
Int J Neonatal Screen. 2020.
PMID: 33239586
Free PMC article.
MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM.
Nohara F, Tajima G, Sasai H, Makita Y.
Nohara F, et al.
Hum Genome Var. 2022 Jan 17;9(1):2. doi: 10.1038/s41439-021-00177-3.
Hum Genome Var. 2022.
PMID: 35034956
Free PMC article.
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Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan.
Yamada K, Yamaguchi S, Yokoyama K, Aoki K, Taketani T.
Yamada K, et al.
Int J Neonatal Screen. 2021 Apr 14;7(2):21. doi: 10.3390/ijns7020021.
Int J Neonatal Screen. 2021.
PMID: 33919983
Free PMC article.
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Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan.
Odagiri S, Kabata D, Tomita S, Kudo S, Sakaguchi T, Nakano N, Yamamoto K, Shintaku H, Hamazaki T.
Odagiri S, et al.
Int J Neonatal Screen. 2021 Mar 18;7(1):17. doi: 10.3390/ijns7010017.
Int J Neonatal Screen. 2021.
PMID: 33803550
Free PMC article.
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Long QT as a first sign for propionic acidemia in a 10-year-old girl.
Sasai H, Goto H, Kawashiri M, Kuwahara T.
Sasai H, et al.
Pediatr Int. 2022 Jan;64(1):e14752. doi: 10.1111/ped.14752. Epub 2021 Nov 8.
Pediatr Int. 2022.
PMID: 34747083
No abstract available.
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