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

Year Number of Results
1963 42
1964 72
1965 70
1966 92
1967 117
1968 144
1969 166
1970 178
1971 194
1972 234
1973 207
1974 212
1975 168
1976 193
1977 125
1978 143
1979 151
1980 130
1981 144
1982 183
1983 176
1984 181
1985 183
1986 162
1987 210
1988 303
1989 250
1990 279
1991 330
1992 339
1993 407
1994 369
1995 425
1996 354
1997 420
1998 711
1999 501
2000 553
2001 711
2002 644
2003 581
2004 605
2005 604
2006 632
2007 626
2008 575
2009 589
2010 620
2011 680
2012 686
2013 789
2014 767
2015 720
2016 752
2017 730
2018 750
2019 770
2020 795
2021 768
2022 683
2023 620
2024 189

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23,395 results

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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 c …
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. ...
Inborn errors of metabolism (IEM), otherwise known as inherited metabolic disorders (IMD), are individually rare …
Inborn errors of metabolism.
Ferreira CR, van Karnebeek CDM. Ferreira CR, et al. Handb Clin Neurol. 2019;162:449-481. doi: 10.1016/B978-0-444-64029-1.00022-9. Handb Clin Neurol. 2019. PMID: 31324325 Review.
Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic signs in newborns. ...Given their frequency and potential for treatment, the clinician should be aware of th …
Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of condit …
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.
The most common causes of NS include: intraventricular haemorrhage, hypoxic-ischemic encephalopathy, hypoglycemia, electrolyte imbalance, neonatal stroke or central nervous system infection. Nevertheless, an Inborn Error of Metabolism (IEM) should be suspected in ca …
The most common causes of NS include: intraventricular haemorrhage, hypoxic-ischemic encephalopathy, hypoglycemia, electrolyte imbalance, ne …
Inborn errors of metabolism and their impact in paediatric dentistry.
Hirst L, Chakrapani A, Mubeen S. Hirst L, et al. J Inherit Metab Dis. 2022 May;45(3):417-430. doi: 10.1002/jimd.12493. Epub 2022 Mar 11. J Inherit Metab Dis. 2022. PMID: 35244948 Review.
Inborn errors of metabolism describe a largely heterogenous group of genetic disorders namely attributable to a single gene defect essential for a specific metabolic pathway. ...This paper aims to discuss the primary oral and maxillofacial manifestatio …
Inborn errors of metabolism describe a largely heterogenous group of genetic disorders namely attributable to a …
Inborn Errors of Metabolism and the Gastrointestinal Tract.
Guerrero RB, Kloke KM, Salazar D. Guerrero RB, et al. Gastroenterol Clin North Am. 2019 Jun;48(2):183-198. doi: 10.1016/j.gtc.2019.02.001. Epub 2019 Apr 1. Gastroenterol Clin North Am. 2019. PMID: 31046970 Review.
Inborn errors of metabolism (IEMs) are usually recognized by characteristic neurologic and metabolic manifestations and sometimes by dysmorphism. ...
Inborn errors of metabolism (IEMs) are usually recognized by characteristic neurologic and metabolic manifestati …
Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis.
Jurecka A, Tylki-Szymanska A. Jurecka A, et al. Mol Genet Metab. 2022 Jul;136(3):164-176. doi: 10.1016/j.ymgme.2022.02.007. Epub 2022 Feb 19. Mol Genet Metab. 2022. PMID: 35216884 Review.
Inborn errors of purine and pyrimidine (P/P) metabolism are under-reported and rarely mentioned in the general literature or in clinical practice, as well as in reviews dedicated to other inborn errors of metabolism (IEMs). ...The …
Inborn errors of purine and pyrimidine (P/P) metabolism are under-reported and rarely mentioned in the general literatu …
Metabolic Epilepsy.
Reddy C, Saini AG. Reddy C, et al. Indian J Pediatr. 2021 Oct;88(10):1025-1032. doi: 10.1007/s12098-020-03510-w. Epub 2020 Oct 16. Indian J Pediatr. 2021. PMID: 33063276 Review.
Inborn errors of metabolism have been considered as an infrequent cause of epilepsy. ...
Inborn errors of metabolism have been considered as an infrequent cause of epilepsy. ...
Psychiatric manifestations of inborn errors of metabolism: A systematic review.
van de Burgt N, van Doesum W, Grevink M, van Niele S, de Koning T, Leibold N, Martinez-Martinez P, van Amelsvoort T, Cath D. van de Burgt N, et al. Neurosci Biobehav Rev. 2023 Jan;144:104970. doi: 10.1016/j.neubiorev.2022.104970. Epub 2022 Nov 25. Neurosci Biobehav Rev. 2023. PMID: 36436739 Free article. Review.
Inborn errors of metabolism (IEMs) are characterized by deficits in metabolic enzymes as a result of an inherited disease, leading to the accumulation or decreased excretion of proteins, carbohydrates and lipids. ...
Inborn errors of metabolism (IEMs) are characterized by deficits in metabolic enzymes as a result of an inherite …
23,395 results
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