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Year Number of Results
1968 1
1974 1
1976 4
1977 4
1978 3
1979 1
1980 2
1981 2
1982 5
1983 4
1984 3
1985 2
1986 5
1987 3
1988 3
1989 8
1990 8
1991 7
1992 8
1993 7
1994 6
1995 8
1996 2
1997 11
1998 9
1999 18
2000 12
2001 6
2002 18
2003 17
2004 14
2005 18
2006 17
2007 27
2008 35
2009 28
2010 41
2011 34
2012 37
2013 40
2014 51
2015 62
2016 78
2017 64
2018 83
2019 98
2020 100
2021 118
2022 120
2023 94
2024 28

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1,190 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 …
Detoxification pathways in the liver.
Grant DM. Grant DM. J Inherit Metab Dis. 1991;14(4):421-30. doi: 10.1007/BF01797915. J Inherit Metab Dis. 1991. PMID: 1749210 Review.
Pharmacogenetic defects of xenobiotic biotransformation enzymes, a subclass of inborn errors of metabolism which are manifested only upon drug challenge, introduce marked variation into human populations for the pharmacokinetics and pharmacodynamics of …
Pharmacogenetic defects of xenobiotic biotransformation enzymes, a subclass of inborn errors of metabolism which …
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 …
Rare causes of hypoglycemia in adults.
Douillard C, Jannin A, Vantyghem MC. Douillard C, et al. Ann Endocrinol (Paris). 2020 Jun;81(2-3):110-117. doi: 10.1016/j.ando.2020.04.003. Epub 2020 Apr 10. Ann Endocrinol (Paris). 2020. PMID: 32409005 Review.
Genetic causes may be related to endogenous hyperinsulinism and to inborn errors of metabolism (IEM). Endogenous hyperinsulinism is related to monogenic congenital hyperinsulinism, and especially to mutations of the glucokinase-activating gene or of in …
Genetic causes may be related to endogenous hyperinsulinism and to inborn errors of metabolism (IEM). Endogenous …
Diagnostic approach to neonatal and infantile cholestasis: A position paper by the SIGENP liver disease working group.
Ranucci G, Della Corte C, Alberti D, Bondioni MP, Boroni G, Calvo PL, Cananzi M, Candusso M, Clemente MG, D'Antiga L, Degrassi I, De Ville De Goyet J, Di Dato F, Di Giorgio A, Vici CD, Ferrari F, Francalanci P, Fuoti M, Fusaro F, Gaio P, Grimaldi C, Iascone M, Indolfi G, Iorio R, Maggiore G, Mandato C, Matarazzo L, Monti L, Mosca F, Nebbia G, Nuti F, Paolella G, Pinon M, Roggero P, Sciveres M, Serranti D, Spada M, Vajro P, Nicastro E. Ranucci G, et al. Dig Liver Dis. 2022 Jan;54(1):40-53. doi: 10.1016/j.dld.2021.09.011. Epub 2021 Oct 20. Dig Liver Dis. 2022. PMID: 34688573
Neonatal hypotonia.
Sparks SE. Sparks SE. Clin Perinatol. 2015 Jun;42(2):363-71, ix. doi: 10.1016/j.clp.2015.02.008. Clin Perinatol. 2015. PMID: 26042909 Review.
The genetic differential diagnosis is broad, encompassing primary muscular dystrophies, chromosome abnormalities, neuropathies, and inborn errors of metabolism. Recognition of hypotonia is relatively straightforward, but determining the cause can be ch …
The genetic differential diagnosis is broad, encompassing primary muscular dystrophies, chromosome abnormalities, neuropathies, and inbor …
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. ...
Inborn errors of metabolism (IEMs) are a large group of disorders that can present in any age group and must be …
The landscape of CRISPR/Cas9 for inborn errors of metabolism.
Leal AF, Fnu N, Benincore-Flórez E, Herreño-Pachón AM, Echeverri-Peña OY, Alméciga-Díaz CJ, Tomatsu S. Leal AF, et al. Mol Genet Metab. 2023 Jan;138(1):106968. doi: 10.1016/j.ymgme.2022.106968. Epub 2022 Dec 7. Mol Genet Metab. 2023. PMID: 36525790 Free PMC article. Review.
CRISPR/Cas9 can rewrite the genome at any region with outstanding precision to modify it and further instructions for gene expression. Inborn Errors of Metabolism (IEM) are a group of more than 1500 diseases produced by mutations in genes encoding for …
CRISPR/Cas9 can rewrite the genome at any region with outstanding precision to modify it and further instructions for gene expression. In …
1,190 results