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

Year Number of Results
1923 1
1945 16
1946 89
1947 103
1948 118
1949 112
1950 222
1951 328
1952 447
1953 437
1954 468
1955 451
1956 486
1957 589
1958 536
1959 567
1960 627
1961 680
1962 745
1963 1111
1964 1556
1965 1432
1966 1324
1967 1628
1968 1992
1969 2010
1970 2111
1971 2219
1972 2219
1973 2228
1974 2304
1975 2016
1976 1848
1977 1911
1978 1986
1979 1874
1980 2017
1981 1977
1982 2200
1983 2033
1984 2099
1985 2111
1986 2056
1987 1989
1988 2156
1989 2058
1990 2208
1991 2255
1992 2292
1993 2467
1994 2282
1995 2440
1996 2349
1997 2442
1998 2885
1999 2819
2000 2971
2001 3170
2002 3102
2003 3221
2004 3280
2005 3538
2006 3681
2007 3715
2008 3825
2009 3797
2010 4166
2011 4387
2012 4606
2013 4817
2014 4771
2015 4664
2016 4868
2017 4788
2018 4999
2019 5310
2020 5577
2021 5411
2022 5039
2023 4426
2024 1480

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175,451 results

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Page 1
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 …
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 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: Becoming Ready for Rare.
Vergano SAS. Vergano SAS. Pediatr Rev. 2022 Jul 1;43(7):371-383. doi: 10.1542/pir.2022-005088. Pediatr Rev. 2022. PMID: 35773536 Review.
Inborn errors of metabolism (IEMs) are a large group of disorders that can present in any age group and must be considered in the differential diagnosis for a variety of signs and symptoms appearing in infants and children. ...Disorders that are discus …
Inborn errors of metabolism (IEMs) are a large group of disorders that can present in any age group and must be …
Inborn Errors of Metabolism in Dogs: Historical, Metabolic, Genetic, and Clinical Aspects.
Moura E, Tasqueti UI, Mangrich-Rocha RMV, Engracia Filho JR, Farias MR, Pimpão CT. Moura E, et al. Top Companion Anim Med. 2022 Nov-Dec;51:100731. doi: 10.1016/j.tcam.2022.100731. Epub 2022 Oct 20. Top Companion Anim Med. 2022. PMID: 36272535 Review.
Inborn errors of metabolism are genetic disorders caused by a block in a metabolic pathway, affecting both humans and animals. ...General practitioners' familiarization with this subject is a significant factor in identifying new cases, contributing to …
Inborn errors of metabolism are genetic disorders caused by a block in a metabolic pathway, affecting both human …
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 …
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 …
Advances in inborn errors of metabolism.
Fukao T, Nakamura K. Fukao T, et al. J Hum Genet. 2019 Feb;64(2):65. doi: 10.1038/s10038-018-0535-7. Epub 2019 Jan 25. J Hum Genet. 2019. PMID: 30679804 No abstract available.
Inborn Errors of Metabolism.
Ezgu F. Ezgu F. Adv Clin Chem. 2016;73:195-250. doi: 10.1016/bs.acc.2015.12.001. Epub 2016 Jan 23. Adv Clin Chem. 2016. PMID: 26975974 Review.
Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. ...Hundreds of disorders have been described until now and there has been a considerable clinical overlap between certain inbor …
Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of …
175,451 results
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