Similar articles for PMID: 29767664

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1

Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl.

Cozzolino C, Villani GR, Frisso G, Scolamiero E, Albano L, Gallo G, Romanelli R, Ruoppolo M. Cozzolino C, et al. Genet Mol Biol. 2018 Apr./Jun;41(2):379-385. doi: 10.1590/1678-4685-GMB-2017-0093. Epub 2018 May 14. Genet Mol Biol. 2018. PMID: 29767664 Free PMC article.

2

[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening].

Ye J, Gong L, Han L, Qiu W, Zhang H, Gao X, Jin J, Xu H, Gu X. Ye J, et al. Zhonghua Er Ke Za Zhi. 2014 Jun;52(6):409-14. Zhonghua Er Ke Za Zhi. 2014. PMID: 25190158 Chinese.

3

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China.

Cheng Y, Chen P, Yu Z, Yin X, Zhang C, Miao H, Huang X. Cheng Y, et al. Clin Chim Acta. 2023 Mar 1;542:117266. doi: 10.1016/j.cca.2023.117266. Epub 2023 Feb 21. Clin Chim Acta. 2023. PMID: 36822454

4

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

Fonseca H, Azevedo L, Serrano C, Sousa C, Marcão A, Vilarinho L. Fonseca H, et al. Gene. 2016 Dec 15;594(2):203-210. doi: 10.1016/j.gene.2016.09.003. Epub 2016 Sep 4. Gene. 2016. PMID: 27601257

5

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.

Baumgartner MR, Dantas MF, Suormala T, Almashanu S, Giunta C, Friebel D, Gebhardt B, Fowler B, Hoffmann GF, Baumgartner ER, Valle D. Baumgartner MR, et al. Am J Hum Genet. 2004 Nov;75(5):790-800. doi: 10.1086/425181. Epub 2004 Sep 9. Am J Hum Genet. 2004. PMID: 15359379 Free PMC article.

6

Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency.

Baumgartner MR. Baumgartner MR. J Inherit Metab Dis. 2005;28(3):301-9. doi: 10.1007/s10545-005-7054-3. J Inherit Metab Dis. 2005. PMID: 15868465 Free article. Review.

7

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

Gallardo ME, Desviat LR, Rodríguez JM, Esparza-Gordillo J, Pérez-Cerdá C, Pérez B, Rodríguez-Pombo P, Criado O, Sanz R, Morton DH, Gibson KM, Le TP, Ribes A, de Córdoba SR, Ugarte M, Peñalva MA. Gallardo ME, et al. Am J Hum Genet. 2001 Feb;68(2):334-46. doi: 10.1086/318202. Epub 2001 Jan 17. Am J Hum Genet. 2001. PMID: 11170888 Free PMC article.

8

An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening.

Kör D, Mungan NÖ, Yılmaz BŞ, Öktem M. Kör D, et al. J Pediatr Endocrinol Metab. 2015 May;28(5-6):669-71. doi: 10.1515/jpem-2014-0302. J Pediatr Endocrinol Metab. 2015. PMID: 25381946

9

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR. Grünert SC, et al. Orphanet J Rare Dis. 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31. Orphanet J Rare Dis. 2012. PMID: 22642865 Free PMC article.

10

The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin.

Friebel D, von der Hagen M, Baumgartner ER, Fowler B, Hahn G, Feyh P, Heubner G, Baumgartner MR, Hoffmann GF. Friebel D, et al. Neuropediatrics. 2006 Apr;37(2):72-8. doi: 10.1055/s-2006-924024. Neuropediatrics. 2006. PMID: 16773504

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