Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1974 1
1975 1
1977 1
1978 1
1979 2
1980 1
1981 2
1982 3
1983 2
1984 1
1985 3
1986 2
1987 2
1989 3
1990 2
1991 3
1992 1
1993 2
1994 5
1995 2
1996 2
1997 6
1998 7
1999 5
2000 4
2001 4
2002 4
2003 6
2004 10
2005 14
2006 5
2007 10
2008 18
2009 18
2010 24
2011 20
2012 14
2013 24
2014 30
2015 35
2016 46
2017 37
2018 44
2019 52
2020 47
2021 66
2022 66
2023 66
2024 20

Text availability

Article attribute

Article type

Publication date

Search Results

647 results

Results by year

Filters applied: . Clear all
Page 1
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.
Herein, we report a systematic review on those IEMs that lead to NS and epilepsy in the neonatal period, studying only those IEMs not included in the ENS with tandem mass, suggesting clinical, biochemical features, and diagnostic work-up. Remarkably, we have observed a wor …
Herein, we report a systematic review on those IEMs that lead to NS and epilepsy in the neonatal period, studying only those IEMs not includ …
Bisphosphonate therapy for osteogenesis imperfecta.
Dwan K, Phillipi CA, Steiner RD, Basel D. Dwan K, et al. Cochrane Database Syst Rev. 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. Cochrane Database Syst Rev. 2016. PMID: 27760454 Free PMC article. Review.
SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Inborn Errors of Metabolism Trials Register which comprises references identified from comprehensive electronic database searches, handsearches of journals and confere …
SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Inborn Errors of Metabolism …
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y, Jiang J, Xu Z. Guo Y, et al. Orphanet J Rare Dis. 2023 Jun 12;18(1):148. doi: 10.1186/s13023-023-02726-1. Orphanet J Rare Dis. 2023. PMID: 37308883 Free PMC article. Review.
BACKGROUND: Population-specific variation database of inborn errors of metabolism (IEMs) is essential for precise genetic diagnosis and disease prevention. ...Patients identified by newborn screening and symptomatic presentation were 231 (40.17%) and 3 …
BACKGROUND: Population-specific variation database of inborn errors of metabolism (IEMs) is essential for precis …
Rare and common genetic determinants of metabolic individuality and their effects on human health.
Surendran P, Stewart ID, Au Yeung VPW, Pietzner M, Raffler J, Wörheide MA, Li C, Smith RF, Wittemans LBL, Bomba L, Menni C, Zierer J, Rossi N, Sheridan PA, Watkins NA, Mangino M, Hysi PG, Di Angelantonio E, Falchi M, Spector TD, Soranzo N, Michelotti GA, Arlt W, Lotta LA, Denaxas S, Hemingway H, Gamazon ER, Howson JMM, Wood AM, Danesh J, Wareham NJ, Kastenmüller G, Fauman EB, Suhre K, Butterworth AS, Langenberg C. Surendran P, et al. Nat Med. 2022 Nov;28(11):2321-2332. doi: 10.1038/s41591-022-02046-0. Epub 2022 Nov 10. Nat Med. 2022. PMID: 36357675 Free PMC article.
We assigned causal genes for 62.4% of these genetically influenced metabotypes, providing new insights into fundamental metabolite physiology and clinical relevance, including metabolite-guided discovery of potential adverse drug effects (DPYD and SRD5A2). We show strong enrichme …
We assigned causal genes for 62.4% of these genetically influenced metabotypes, providing new insights into fundamental metabolite physiolog …
Hyperhomocysteinemia in Cardiovascular Diseases: Revisiting Observational Studies and Clinical Trials.
Guéant JL, Guéant-Rodriguez RM, Oussalah A, Zuily S, Rosenberg I. Guéant JL, et al. Thromb Haemost. 2023 Mar;123(3):270-282. doi: 10.1055/a-1952-1946. Epub 2022 Sep 28. Thromb Haemost. 2023. PMID: 36170884 Free article. Review.
In contrast, moderate hyperhomocysteinemia (15-30 mol/L) is a modest predictor of cardiovascular risk. The recognition of homocysteine as a cardiovascular risk factor has been challenged by some but not all randomized clinical trials. ...This guideline challenged the need …
In contrast, moderate hyperhomocysteinemia (15-30 mol/L) is a modest predictor of cardiovascular risk. The recognition of homocystein …
A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation.
Arroyo JD, Jourdain AA, Calvo SE, Ballarano CA, Doench JG, Root DE, Mootha VK. Arroyo JD, et al. Cell Metab. 2016 Dec 13;24(6):875-885. doi: 10.1016/j.cmet.2016.08.017. Epub 2016 Sep 22. Cell Metab. 2016. PMID: 27667664 Free PMC article.
Deficiencies in OXPHOS can arise from mutations in either mitochondrial or nuclear genomes and comprise the largest collection of inborn errors of metabolism. At present we lack a complete catalog of human genes and pathways essential for OXPHOS. Here …
Deficiencies in OXPHOS can arise from mutations in either mitochondrial or nuclear genomes and comprise the largest collection of inborn …
HELLP Syndrome.
Sandvoß M, Potthast AB, von Versen-Höynck F, Das AM. Sandvoß M, et al. Reprod Sci. 2017 Apr;24(4):568-574. doi: 10.1177/1933719116667216. Epub 2016 Sep 27. Reprod Sci. 2017. PMID: 27651178
The hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome is frequently observed in mothers whose offspring have long-chain fatty acid oxidation defects. We previously found that fatty acid oxidation is compromised not only in these inborn er …
The hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome is frequently observed in mothers whose offspring have …
Metabolomics in genetic testing.
Troisi J, Cavallo P, Colucci A, Pierri L, Scala G, Symes S, Jones C, Richards S. Troisi J, et al. Adv Clin Chem. 2020;94:85-153. doi: 10.1016/bs.acc.2019.07.009. Epub 2019 Sep 6. Adv Clin Chem. 2020. PMID: 31952575 Review.
Metabolomics signatures, which describe a subject's phenotype, are useful for disease diagnosis and prognosis, as well as for predicting and monitoring the effectiveness of treatments. Metabolomics is conventionally divided into targeted (i.e., the quantitative analysis of …
Metabolomics signatures, which describe a subject's phenotype, are useful for disease diagnosis and prognosis, as well as for predicting …
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.
Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg S, Harmatz P, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Andreasen AK, Geist MA, Havnsøe Torp Petersen N, Ingemann L, Hansen T, Blaettler T, Kirkegaard T, Í Dali C. Mengel E, et al. J Inherit Metab Dis. 2021 Nov;44(6):1463-1480. doi: 10.1002/jimd.12428. Epub 2021 Sep 7. J Inherit Metab Dis. 2021. PMID: 34418116 Free PMC article. Clinical Trial.
The primary endpoint was change in 5-domain NPC Clinical Severity Scale (NPCCSS) score from baseline to 12 months. Fifty patients enrolled; 42 completed. ...A statistically significant treatment difference in favour of arimoclomol of -1.40 (95% confidence interval: -2.76, …
The primary endpoint was change in 5-domain NPC Clinical Severity Scale (NPCCSS) score from baseline to 12 months. Fifty patients enr …
Homocysteine.
Finkelstein JD, Martin JJ. Finkelstein JD, et al. Int J Biochem Cell Biol. 2000 Apr;32(4):385-9. doi: 10.1016/s1357-2725(99)00138-7. Int J Biochem Cell Biol. 2000. PMID: 10762063 Review.
The clinical consequences of disruption of these pathways was apparent first in rare inborn errors of metabolism that cause homocystinuria, but recent studies focus on "hyperhomocysteinemia"--a lesser metabolic impairment that may result from genetic v …
The clinical consequences of disruption of these pathways was apparent first in rare inborn errors of metabolism …
647 results