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

Year Number of Results
1966 1
1969 2
1970 1
1972 3
1973 2
1974 1
1975 2
1976 4
1977 1
1978 4
1979 2
1980 1
1981 1
1982 4
1984 2
1985 4
1986 1
1987 4
1988 4
1989 2
1990 6
1991 3
1992 5
1993 2
1994 4
1995 2
1996 1
1997 5
1998 3
1999 7
2000 2
2001 4
2002 9
2003 15
2004 6
2005 6
2006 11
2007 11
2008 20
2009 13
2010 18
2011 17
2012 17
2013 20
2014 19
2015 14
2016 13
2017 20
2018 25
2019 19
2020 26
2021 21
2022 19
2023 18
2024 10

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417 results

Results by year

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Page 1
Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management.
Saudubray JM, Garcia-Cazorla À. Saudubray JM, et al. Pediatr Clin North Am. 2018 Apr;65(2):179-208. doi: 10.1016/j.pcl.2017.11.002. Pediatr Clin North Am. 2018. PMID: 29502909 Review.
This review presents an updated pathophysiologic classification of inborn errors of metabolism and a method of clinical screening in neonates, late-onset emergencies, neurologic deterioration, and other common clinical scenarios. ...
This review presents an updated pathophysiologic classification of inborn errors of metabolism and a method of clinical …
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE. Adhikari AN, et al. Nat Med. 2020 Sep;26(9):1392-1397. doi: 10.1038/s41591-020-0966-5. Epub 2020 Aug 10. Nat Med. 2020. PMID: 32778825 Free PMC article.
Tandem mass spectrometry (MS/MS) is currently used to screen newborns for a panel of rare inborn errors of metabolism (IEMs)(1-4). The NBSeq project evaluated whole-exome sequencing (WES) as an innovative methodology for NBS. ...
Tandem mass spectrometry (MS/MS) is currently used to screen newborns for a panel of rare inborn errors of metabolism ( …
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.
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). ...Except for vitam …
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propioni …
Inborn Errors of Metabolism-Approach to Diagnosis and Management in Neonates.
Balakrishnan U. Balakrishnan U. Indian J Pediatr. 2021 Jul;88(7):679-689. doi: 10.1007/s12098-021-03759-9. Epub 2021 Jun 7. Indian J Pediatr. 2021. PMID: 34097229 Review.
Inborn errors of metabolism (IEM), otherwise known as inherited metabolic disorders (IMD), are individually rare, but collectively common. ...Clinical presentations of IEM in the neonatal period, a quick guide to the diagnosis with the help of baseline invest …
Inborn errors of metabolism (IEM), otherwise known as inherited metabolic disorders (IMD), are individually rare, but c …
Recent developments in diagnostics and treatment of neonatal cholestasis.
Feldman AG, Sokol RJ. Feldman AG, et al. Semin Pediatr Surg. 2020 Aug;29(4):150945. doi: 10.1016/j.sempedsurg.2020.150945. Epub 2020 Jul 23. Semin Pediatr Surg. 2020. PMID: 32861449 Free PMC article. Review.
A timely evaluation for its etiology is critical in order to quickly identify treatable causes such as biliary atresia, many of which benefit from early therapy. An expanding group of molecularly defined disorders involving bile formation, canalicular transporters, tight j …
A timely evaluation for its etiology is critical in order to quickly identify treatable causes such as biliary atresia, many of which benefi …
Current status of newborn screening worldwide: 2015.
Therrell BL, Padilla CD, Loeber JG, Kneisser I, Saadallah A, Borrajo GJ, Adams J. Therrell BL, et al. Semin Perinatol. 2015 Apr;39(3):171-87. doi: 10.1053/j.semperi.2015.03.002. Semin Perinatol. 2015. PMID: 25979780 Review.
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H. Wasim M, et al. Biochem Genet. 2018 Apr;56(1-2):7-21. doi: 10.1007/s10528-017-9825-6. Epub 2017 Nov 1. Biochem Genet. 2018. PMID: 29094226 Review.
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. ...
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the sp …
Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review.
Falsaperla R, Sciuto L, La Spina L, Sciuto S, Praticò AD, Ruggieri M. Falsaperla R, et al. Metab Brain Dis. 2021 Dec;36(8):2195-2203. doi: 10.1007/s11011-021-00798-1. Epub 2021 Aug 17. Metab Brain Dis. 2021. PMID: 34403026 Free PMC article. Review.
Nevertheless, an Inborn Error of Metabolism (IEM) should be suspected in case of NS especially if these are resistant to common antiseizure drugs (ASDs) and with metabolic decompensation. Nowadays, Expanded Newborn Screening (ENS) has changed the natural history of …
Nevertheless, an Inborn Error of Metabolism (IEM) should be suspected in case of NS especially if these are resistant to commo …
Newborn Screening.
Pappas KB. Pappas KB. Pediatr Clin North Am. 2023 Oct;70(5):1013-1027. doi: 10.1016/j.pcl.2023.06.003. Pediatr Clin North Am. 2023. PMID: 37704344 Review.
Pediatricians often play a vital role in the initial disclosure of newborn screening results and coordination of confirmatory testing, treatment, and referral to specialty care. The goal of this article is to provide an overview of current newborn screening in the United S …
Pediatricians often play a vital role in the initial disclosure of newborn screening results and coordination of confirmatory testing, treat …
417 results