PMC Links for OMIM (Select 609010) - PMC

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Items: 5

Select item 44227781.

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD

Peter J. Shepard, Bruce A. Barshop, Matthias R. Baumgartner, John-Bjarne Hansen, Kristen Jepsen, Erin N. Smith, Kelly A. Frazer

Genet Med. Author manuscript; available in PMC 2015 Aug 5.

Published in final edited form as: Genet Med. 2015 Aug; 17(8): 660–667. Published online 2014 Nov 6. doi: 10.1038/gim.2014.157

PMCID:: PMC4422778

Abstract Article PDF–539K

Select item 12352672.

The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism

M. Esther Gallardo, Lourdes R. Desviat, José M. Rodríguez, Jorge Esparza-Gordillo, Celia Pérez-Cerdá, Belén Pérez, Pilar Rodríguez-Pombo, Olga Criado, Raul Sanz, D. Holmes Morton, K. Michael Gibson, Thuy P. Le, Antonia Ribes, Santiago Rodríguez de Córdoba, Magdalena Ugarte, Miguel Á. Peñalva

Am J Hum Genet. 2001 Feb; 68(2): 334–346. Published online 2001 Jan 17. doi: 10.1086/318202

PMCID:: PMC1235267

Abstract Article PDF–1.9M

Select item 11821083.

Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy

Matthias R. Baumgartner, M. Fernanda Dantas, Terttu Suormala, Shlomo Almashanu, Cecilia Giunta, Dolores Friebel, Boris Gebhardt, Brian Fowler, Georg F. Hoffmann, E. Regula Baumgartner, David Valle

Am J Hum Genet. 2004 Nov; 75(5): 790–800. Published online 2004 Sep 9. doi: 10.1086/425181