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

Year Number of Results
1966 1
1970 3
1971 1
1973 1
1974 1
1976 1
1979 2
1980 1
1982 1
1983 1
1989 1
1991 2
1998 1
2001 1
2005 1
2006 1
2008 1
2009 1
2010 1
2011 2
2012 3
2014 1
2015 1
2016 2
2017 1
2018 1
2021 4
2022 1
2024 0

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37 results

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Page 1
Management of autoimmune hepatitis.
Mayo MJ. Mayo MJ. Curr Opin Gastroenterol. 2011 May;27(3):224-30. doi: 10.1097/MOG.0b013e3283457ce0. Curr Opin Gastroenterol. 2011. PMID: 21451411 Free article. Review.
Initial placebo-controlled trials carried out in the 1970s demonstrated that immunosuppression with steroids was extremely effective in reducing flares and progression of disease. The late 1980s-1990s could be described as the 'Dark Ages' of AIH treatment research. ...
Initial placebo-controlled trials carried out in the 1970s demonstrated that immunosuppression with steroids was extremely effective in redu …
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
Barić I, Staufner C, Augoustides-Savvopoulou P, Chien YH, Dobbelaere D, Grünert SC, Opladen T, Petković Ramadža D, Rakić B, Wedell A, Blom HJ. Barić I, et al. J Inherit Metab Dis. 2017 Jan;40(1):5-20. doi: 10.1007/s10545-016-9972-7. Epub 2016 Sep 26. J Inherit Metab Dis. 2017. PMID: 27671891 Free PMC article. Review.
Inherited methylation disorders are a group of rarely reported, probably largely underdiagnosed disorders affecting transmethylation processes in the metabolic pathway between methionine and homocysteine. ...Mild hyperhomocysteinemia can be present in all met …
Inherited methylation disorders are a group of rarely reported, probably largely underdiagnosed disorders affecting transmethy …
Current relevance of pharmacogenetics in immunomodulation treatment for Crohn's disease.
Roberts RL, Barclay ML. Roberts RL, et al. J Gastroenterol Hepatol. 2012 Oct;27(10):1546-54. doi: 10.1111/j.1440-1746.2012.07220.x. J Gastroenterol Hepatol. 2012. PMID: 22741564 Review.
No drug therapy is completely risk free, and the costs associated with non-response and adverse effects can exceed the cost of the therapy. ...Currently, thiopurine S-methyltransferase (TPMT) deficiency is the only pharmacogenetic factor that is prospectively assess …
No drug therapy is completely risk free, and the costs associated with non-response and adverse effects can exceed the cost of the …
Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor delta Agonist Improves Cellular Bioenergetics.
D'Annibale OM, Phua YL, Van't Land C, Karunanidhi A, Dorenbaum A, Mohsen AW, Vockley J. D'Annibale OM, et al. Cells. 2022 Aug 24;11(17):2635. doi: 10.3390/cells11172635. Cells. 2022. PMID: 36078043 Free PMC article.
Background: Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive disease that prevents the body from utilizing long-chain fatty acids for energy, most needed during stress and fasting. ...Discussion: Treating VLCAD-deficient fibroblasts with …
Background: Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive disease that prevents the body from u …
Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry.
Kuhara T. Kuhara T. J Chromatogr B Biomed Sci Appl. 2001 Jul 5;758(1):3-25. doi: 10.1016/s0378-4347(01)00138-4. J Chromatogr B Biomed Sci Appl. 2001. PMID: 11482733 Review.
This review will be concerned primarily with a practical yet comprehensive diagnostic procedure for the diagnosis or even mass screening of a variety of metabolic disorders. This rapid, highly sensitive procedure offers possibilities for clinical chemistry laborator …
This review will be concerned primarily with a practical yet comprehensive diagnostic procedure for the diagnosis or even mass screening of …
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
Armstrong AJ, Collado MS, Henke BR, Olson MW, Hoang SA, Hamilton CA, Pourtaheri TD, Chapman KA, Summar MM, Johns BA, Wamhoff BR, Reardon JE, Figler RA. Armstrong AJ, et al. Mol Genet Metab. 2021 May;133(1):71-82. doi: 10.1016/j.ymgme.2021.03.001. Epub 2021 Mar 10. Mol Genet Metab. 2021. PMID: 33741272 Free PMC article.
Propionic Acidemia (PA) and Methylmalonic Acidemia (MMA) are inborn errors of metabolism affecting the catabolism of valine, isoleucine, methionine, threonine and odd-chain fatty acids. ...We deployed liver cell-based models that utilized PA and MMA patient-derived …
Propionic Acidemia (PA) and Methylmalonic Acidemia (MMA) are inborn errors of metabolism affecting the catabolism of valine, i …
Dietary treatment of inborn errors of metabolism.
Holtzman NA. Holtzman NA. Annu Rev Med. 1970;21:335-56. doi: 10.1146/annurev.me.21.020170.002003. Annu Rev Med. 1970. PMID: 4193735 Review. No abstract available.
Successful treatment of molybdenum cofactor deficiency type A with cPMP.
Veldman A, Santamaria-Araujo JA, Sollazzo S, Pitt J, Gianello R, Yaplito-Lee J, Wong F, Ramsden CA, Reiss J, Cook I, Fairweather J, Schwarz G. Veldman A, et al. Pediatrics. 2010 May;125(5):e1249-54. doi: 10.1542/peds.2009-2192. Epub 2010 Apr 12. Pediatrics. 2010. PMID: 20385644
Molybdenum cofactor deficiency (MoCD) is a rare metabolic disorder characterized by severe and rapidly progressive neurologic damage caused by the functional loss of sulfite oxidase, 1 of 4 molybdenum-dependent enzymes. To date, no effective therapy is availa …
Molybdenum cofactor deficiency (MoCD) is a rare metabolic disorder characterized by severe and rapidly progressive neurologic …
A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations.
van Vugt AHM, Bijvelds MJC, de Jonge HR, Meijsen KF, Restin T, Bryant MB, Ballauff A, Koot B, Müller T, Houwen RHJ, Janecke AR, Middendorp S. van Vugt AHM, et al. Clin Transl Gastroenterol. 2021 Nov 18;12(11):e00427. doi: 10.14309/ctg.0000000000000427. Clin Transl Gastroenterol. 2021. PMID: 34797252 Free PMC article.
We investigated a specific GCC inhibitor, SSP2518, for its potential to treat this disorder. METHODS: We investigated the effect of SSP2518 on GCC-mediated intracellular cyclic guanosine monophosphate (cGMP) levels and on GCC-mediated chloride secretion in intestinal organ …
We investigated a specific GCC inhibitor, SSP2518, for its potential to treat this disorder. METHODS: We investigated the effect of S …
37 results