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

Year Number of Results
1984 1
1986 1
1990 1
1991 1
1993 4
1994 2
1995 2
1996 1
1997 3
1998 1
1999 5
2000 5
2001 2
2002 2
2003 1
2004 4
2005 3
2006 8
2007 8
2008 6
2009 7
2010 4
2011 7
2012 2
2013 11
2014 9
2015 7
2016 3
2017 5
2018 3
2019 9
2020 8
2021 15
2022 13
2023 4
2024 1

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143 results

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Page 1
Ogilvie's syndrome-acute colonic pseudo-obstruction.
Pereira P, Djeudji F, Leduc P, Fanget F, Barth X. Pereira P, et al. J Visc Surg. 2015 Apr;152(2):99-105. doi: 10.1016/j.jviscsurg.2015.02.004. Epub 2015 Mar 11. J Visc Surg. 2015. PMID: 25770746 Free article. Review.
Ogilvie's syndrome describes an acute colonic pseudo-obstruction (ACPO) consisting of dilatation of part or all of the colon and rectum without intrinsic or extrinsic mechanical obstruction. ...
Ogilvie's syndrome describes an acute colonic pseudo-obstruction (ACPO) consisting of dilatation of part or all of the colon and rect …
Barth syndrome.
Clarke SL, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, Martin RP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, McCurdy KR, Damin MK, Spencer CT, Toth MJ, Kelley RI, Steward CG. Clarke SL, et al. Orphanet J Rare Dis. 2013 Feb 12;8:23. doi: 10.1186/1750-1172-8-23. Orphanet J Rare Dis. 2013. PMID: 23398819 Free PMC article. Review.
First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). ...
First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomy …
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.
Wortmann SB, Duran M, Anikster Y, Barth PG, Sperl W, Zschocke J, Morava E, Wevers RA. Wortmann SB, et al. J Inherit Metab Dis. 2013 Nov;36(6):923-8. doi: 10.1007/s10545-012-9580-0. Epub 2013 Jan 8. J Inherit Metab Dis. 2013. PMID: 23296368 Review.
The latter should be further classified and named by their defective protein or the historical name as follows: i) defective phospholipid remodelling (TAZ defect or Barth syndrome, SERAC1 defect or MEGDEL syndrome) and ii) mitochondrial membrane associated di …
The latter should be further classified and named by their defective protein or the historical name as follows: i) defective phospholipid re …
Current avenues of gene therapy in Pompe disease.
Leon-Astudillo C, Trivedi PD, Sun RC, Gentry MS, Fuller DD, Byrne BJ, Corti M. Leon-Astudillo C, et al. Curr Opin Neurol. 2023 Oct 1;36(5):464-473. doi: 10.1097/WCO.0000000000001187. Epub 2023 Jul 19. Curr Opin Neurol. 2023. PMID: 37639402 Review.
Barth syndrome.
Jefferies JL. Jefferies JL. Am J Med Genet C Semin Med Genet. 2013 Aug;163C(3):198-205. doi: 10.1002/ajmg.c.31372. Epub 2013 Jul 10. Am J Med Genet C Semin Med Genet. 2013. PMID: 23843353 Free PMC article. Review.
Barth syndrome (BTHS) is an X-linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, neutropenia, and increased urinary levels of 3-methylglutaconic acid (3-MGCA). ...
Barth syndrome (BTHS) is an X-linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myop …
Mammalian cardiolipin biosynthesis.
Mejia EM, Nguyen H, Hatch GM. Mejia EM, et al. Chem Phys Lipids. 2014 Apr;179:11-6. doi: 10.1016/j.chemphyslip.2013.10.001. Epub 2013 Oct 19. Chem Phys Lipids. 2014. PMID: 24144810 Review.
In addition, the important role that this key phospholipid plays in disease processes including heart failure, diabetes, thyroid hormone disease and the genetic disease Barth Syndrome will be discussed....
In addition, the important role that this key phospholipid plays in disease processes including heart failure, diabetes, thyroid hormone dis …
Mitochondrial myopathies.
DiMauro S. DiMauro S. Curr Opin Rheumatol. 2006 Nov;18(6):636-41. doi: 10.1097/01.bor.0000245729.17759.f2. Curr Opin Rheumatol. 2006. PMID: 17053512 Review.
RECENT FINDINGS: The most recently described mitochondrial myopathies are due to defects in nuclear DNA, including coenzyme Q10 deficiency and mutations in genes controlling mitochondrial DNA abundance and structure, such as POLG, TK2, and MPV17. Barth syndrome, an …
RECENT FINDINGS: The most recently described mitochondrial myopathies are due to defects in nuclear DNA, including coenzyme Q10 deficiency a …
Hereditary myopathies associated with hematological abnormalities.
Beecher G, Fleming MD, Liewluck T. Beecher G, et al. Muscle Nerve. 2022 Apr;65(4):374-390. doi: 10.1002/mus.27474. Epub 2022 Jan 5. Muscle Nerve. 2022. PMID: 34985130 Review.
Sideroblastic anemia, commonly severe, accompanies congenital-to-childhood onset mitochondrial myopathies including Pearson marrow-pancreas syndrome and mitochondrial myopathy, lactic acidosis, and sideroblastic anemia phenotypes. ...Neutropenia, chronic or cyclical, with …
Sideroblastic anemia, commonly severe, accompanies congenital-to-childhood onset mitochondrial myopathies including Pearson marrow-pancreas …
Mechano-energetic aspects of Barth syndrome.
Dudek J, Maack C. Dudek J, et al. J Inherit Metab Dis. 2022 Jan;45(1):82-98. doi: 10.1002/jimd.12427. Epub 2021 Sep 9. J Inherit Metab Dis. 2022. PMID: 34423473 Review.
Energy conversion is dependent on reducing equivalents, which are replenished by oxidative metabolism in the Krebs cycle. Cardiolipin deficiency in Barth syndrome also affects Krebs cycle activity, metabolite transport and mitochondrial morphology. ...Here, we revie …
Energy conversion is dependent on reducing equivalents, which are replenished by oxidative metabolism in the Krebs cycle. Cardiolipin defici …
[Cerebellar hypoplasias].
Safronova MM, Barbot C, Resende Pereira J. Safronova MM, et al. Acta Med Port. 2010 Sep-Oct;23(5):841-52. Epub 2010 Oct 22. Acta Med Port. 2010. PMID: 21144325 Free article. Review. Portuguese.
A revision of cerebellar hypoplasias and associated pathology is done, illustrated with 22 cases tha include focal and diffuse cerebellar hypoplasias, Dandy-Walker malformations and its variant, persistent Blake's pouch cyst, megacisterna magna, PEHO sindrome (progressive encepha …
A revision of cerebellar hypoplasias and associated pathology is done, illustrated with 22 cases tha include focal and diffuse cerebellar hy …
143 results