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

Year Number of Results
1967 1
1970 2
1973 1
1974 1
1975 1
1989 1
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2000 1
2007 1
2010 1
2011 1
2012 1
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2015 2
2016 1
2017 4
2019 2
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Page 1
Overview of symptoms and treatment for lysinuric protein intolerance.
Noguchi A, Takahashi T. Noguchi A, et al. J Hum Genet. 2019 Sep;64(9):849-858. doi: 10.1038/s10038-019-0620-6. Epub 2019 Jun 18. J Hum Genet. 2019. PMID: 31213652 Review.
Lysinuric protein intolerance (LPI) is caused by dysfunction of the dibasic amino acid membrane transport owing to the functional abnormality of y(+)L amino acid transporter-1 (y(+) LAT-1). ...Although the former can cause death, malnutrition, a …
Lysinuric protein intolerance (LPI) is caused by dysfunction of the dibasic amino acid membrane transport owing to the …
Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency.
Ostojic SM. Ostojic SM. Nutr Neurosci. 2019 May;22(5):302-305. doi: 10.1080/1028415X.2017.1385176. Epub 2017 Oct 3. Nutr Neurosci. 2019. PMID: 28971744 Review.
Characterized by mental retardation, language impairment, and behavioral disorders, AGAT deficiency is a treatable condition, where long-term creatine supplementation usually restores brain creatine levels and improves its clinical features. In some cases of AGAT deficienc …
Characterized by mental retardation, language impairment, and behavioral disorders, AGAT deficiency is a treatable condition, where l …
Genetic screening.
Levy HL. Levy HL. Adv Hum Genet. 1973;4:1-104. doi: 10.1007/978-1-4615-8261-8_1. Adv Hum Genet. 1973. PMID: 4593296 Review. No abstract available.
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Roman TS, Crowley SB, Roche MI, Foreman AKM, O'Daniel JM, Seifert BA, Lee K, Brandt A, Gustafson C, DeCristo DM, Strande NT, Ramkissoon L, Milko LV, Owen P, Roy S, Xiong M, Paquin RS, Butterfield RM, Lewis MA, Souris KJ, Bailey DB Jr, Rini C, Booker JK, Powell BC, Weck KE, Powell CM, Berg JS. Roman TS, et al. Am J Hum Genet. 2020 Oct 1;107(4):596-611. doi: 10.1016/j.ajhg.2020.08.001. Epub 2020 Aug 26. Am J Hum Genet. 2020. PMID: 32853555 Free PMC article.
Genomic sequencing can potentially expand the screening for rare hereditary disorders, but many questions surround its possible use for this purpose. ...ES confirmed the participant's underlying diagnosis in 15 out of 17 (88%) children with metabolic disorders and i …
Genomic sequencing can potentially expand the screening for rare hereditary disorders, but many questions surround its possible use f …
Impact of age at onset and newborn screening on outcome in organic acidurias.
Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; additional individual contributors of the E-IMD consortium. Heringer J, et al. J Inherit Metab Dis. 2016 May;39(3):341-353. doi: 10.1007/s10545-015-9907-8. Epub 2015 Dec 21. J Inherit Metab Dis. 2016. PMID: 26689403
BACKGROUND AND AIM: To describe current diagnostic and therapeutic strategies in organic acidurias (OADs) and to evaluate their impact on the disease course allowing harmonisation. ...Statistical analysis included description and recursive partitioning of diagnostic and …
BACKGROUND AND AIM: To describe current diagnostic and therapeutic strategies in organic acidurias (OADs) and to evaluate their impac …
Dietary treatment of inborn errors of metabolism.
Holtzman NA. Holtzman NA. Annu Rev Med. 1970;21:335-56. doi: 10.1146/annurev.me.21.020170.002003. Annu Rev Med. 1970. PMID: 4193735 Review. No abstract available.
24 results