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2002 2
2004 3
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2006 4
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95 results

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Page 1
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R. Pronicka E, et al. J Transl Med. 2016 Jun 12;14(1):174. doi: 10.1186/s12967-016-0930-9. J Transl Med. 2016. PMID: 27290639 Free PMC article.
Mutations in CLPB, SERAC1, TAZ genes were identified in neonates with 3-methylglutaconic aciduria (3-MGA) as a discriminative feature. ...
Mutations in CLPB, SERAC1, TAZ genes were identified in neonates with 3-methylglutaconic aciduria (3-MGA) as a discrimi …
MEGDEL Syndrome.
Finsterer J, Scorza FA, Fiorini AC, Scorza CA. Finsterer J, et al. Pediatr Neurol. 2020 Sep;110:25-29. doi: 10.1016/j.pediatrneurol.2020.03.009. Epub 2020 Jul 16. Pediatr Neurol. 2020. PMID: 32684373 Review.
MEGDEL syndrome is an autosomal recessive disorder, clinically characterized by 3-methylglutaconic aciduria, psychomotor delay, muscle hypotonia, sensorineural deafness, and Leigh-like lesions on brain magnetic resonance imaging. ...
MEGDEL syndrome is an autosomal recessive disorder, clinically characterized by 3-methylglutaconic aciduria, psychomoto …
3-Methylglutaconic aciduria in carriers of primary carnitine deficiency.
Ziats CA, Burns WB, Tedder ML, Pollard L, Wood T, Champaigne NL. Ziats CA, et al. Eur J Med Genet. 2021 Dec;64(12):104365. doi: 10.1016/j.ejmg.2021.104365. Epub 2021 Oct 9. Eur J Med Genet. 2021. PMID: 34637945
The etiology of secondary 3-methylglutaconic aciduria (3-MGA-uria) is not well understood although is thought to be a marker of mitochondrial dysfunction. For this reason, suspicion for a secondary 3-MGA-uria often leads to an extensive clinical and laborator …
The etiology of secondary 3-methylglutaconic aciduria (3-MGA-uria) is not well understood although is thought to be a m …
The 3-methylglutaconic acidurias: what's new?
Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E. Wortmann SB, et al. J Inherit Metab Dis. 2012 Jan;35(1):13-22. doi: 10.1007/s10545-010-9210-7. Epub 2010 Sep 30. J Inherit Metab Dis. 2012. PMID: 20882351 Free PMC article. Review.
The heterogeneous group of 3-methylglutaconic aciduria (3-MGA-uria) syndromes includes several inborn errors of metabolism biochemically characterized by increased urinary excretion of 3-methylglutaconic acid. Five distinct types have been recognized: 3 …
The heterogeneous group of 3-methylglutaconic aciduria (3-MGA-uria) syndromes includes several inborn errors of metabol …
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.
There is, however, a group of disorders with significantly and consistently increased 3-methylglutaconic acid excretion, where the 3-methylglutaconic aciduria is a hallmark of the phenotype and the key to diagnosis. ...Therefore, we propose the following path …
There is, however, a group of disorders with significantly and consistently increased 3-methylglutaconic acid excretion, where the 3- …
Neuro-Ophthalmic Phenotype of OPA3.
Huna-Baron R, Yahalom G, Anikster Y, Ben Zeev B, Hoffmann C, Hassin-Baer S. Huna-Baron R, et al. J Neuroophthalmol. 2022 Mar 1;42(1):e147-e152. doi: 10.1097/WNO.0000000000001249. Epub 2021 Apr 14. J Neuroophthalmol. 2022. PMID: 33870938
BACKGROUND: Type III 3-methylglutaconic aciduria (OPA 3) is a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy. ...
BACKGROUND: Type III 3-methylglutaconic aciduria (OPA 3) is a neuro-ophthalmologic syndrome consisting of early-onset b …
Multiple syndromes of 3-methylglutaconic aciduria.
Gibson KM, Elpeleg ON, Jakobs C, Costeff H, Kelley RI. Gibson KM, et al. Pediatr Neurol. 1993 Mar-Apr;9(2):120-3. doi: 10.1016/0887-8994(93)90046-f. Pediatr Neurol. 1993. PMID: 8499040 Review.
The most common clinical syndromes associated with 3-methylglutaconic aciduria are presented. In some patients these syndromes are multisystemic, progressive disorders of unknown etiology. Tissues deriving significant energy through oxidative metabolism (nota …
The most common clinical syndromes associated with 3-methylglutaconic aciduria are presented. In some patients these sy …
Structural basis of impaired disaggregase function in the oxidation-sensitive SKD3 mutant causing 3-methylglutaconic aciduria.
Lee S, Lee SB, Sung N, Xu WW, Chang C, Kim HE, Catic A, Tsai FTF. Lee S, et al. Nat Commun. 2023 Apr 11;14(1):2028. doi: 10.1038/s41467-023-37657-9. Nat Commun. 2023. PMID: 37041140 Free PMC article.
SKD3, also known as CLPB, is a ring-forming, ATP-fueled protein disaggregase essential for preserving mitochondrial integrity and structure. SKD3 deficiency causes 3-methylglutaconic aciduria type VII (MGCA7) and early death in infants, while mutations in the …
SKD3, also known as CLPB, is a ring-forming, ATP-fueled protein disaggregase essential for preserving mitochondrial integrity and structure. …
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.
Wortmann SB, Kluijtmans LA, Rodenburg RJ, Sass JO, Nouws J, van Kaauwen EP, Kleefstra T, Tranebjaerg L, de Vries MC, Isohanni P, Walter K, Alkuraya FS, Smuts I, Reinecke CJ, van der Westhuizen FH, Thorburn D, Smeitink JA, Morava E, Wevers RA. Wortmann SB, et al. J Inherit Metab Dis. 2013 Nov;36(6):913-21. doi: 10.1007/s10545-012-9579-6. Epub 2013 Jan 25. J Inherit Metab Dis. 2013. PMID: 23355087
Three percent of all urine samples of the patients referred showed 3-methylglutaconic aciduria, often in correlation with disorders not reported earlier in association with 3-methylglutaconic aciduria (e.g. organic acidurias, urea cycle d …
Three percent of all urine samples of the patients referred showed 3-methylglutaconic aciduria, often in correlation wi …
Hypoglycemia in the neonate.
Cornblath M, Ichord R. Cornblath M, et al. Semin Perinatol. 2000 Apr;24(2):136-49. doi: 10.1053/sp.2000.6364. Semin Perinatol. 2000. PMID: 10805169 Free article. Review.
New data concerning the hereditary aspects of hyperinsulinemia (Glaser, this issue), hereditary defects in branched-chain amino acid, 3-methylglutaconic aciduria and mitochondrial betaoxidation, and degradation of fatty acids (Ozand, this issue), the role of …
New data concerning the hereditary aspects of hyperinsulinemia (Glaser, this issue), hereditary defects in branched-chain amino acid, 3 …
95 results