Methylmalonic Acidemia
Methylmalonic Acidemia: Public Health & Genomic Insights - August 17, 2015
What is methylmalonic acidemia?![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_vtDSGMI-yEezW7P4xVGYYkjlbjLLdcDfSqDf3al8Q8qcsxBiogiQj8SslVDfzwez2cIM6UbpbkGJDzq1MNEd92BUmj0NVtjfabKOQqWNS3ENvRw7ClRekD=s0-d)
NIH Genetics Home Reference
NIH Genetics Home Reference
Check out genetic conditions and tests associated with methylmalonic acidemia,
from the NIH Genetic Testing Registry
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_vtDSGMI-yEezW7P4xVGYYkjlbjLLdcDfSqDf3al8Q8qcsxBiogiQj8SslVDfzwez2cIM6UbpbkGJDzq1MNEd92BUmj0NVtjfabKOQqWNS3ENvRw7ClRekD=s0-d)
Manoli I et al. Genet. Med. 2015 Aug 13.
Manoli I et al. Genet. Med. 2015 Aug 13.
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_vtDSGMI-yEezW7P4xVGYYkjlbjLLdcDfSqDf3al8Q8qcsxBiogiQj8SslVDfzwez2cIM6UbpbkGJDzq1MNEd92BUmj0NVtjfabKOQqWNS3ENvRw7ClRekD=s0-d)
Manoli I et al. Genet. Med. 2015 Aug 13.
Manoli I et al. Genet. Med. 2015 Aug 13.
New research reveals unintended consequences of inappropriate medical food use in managing patients with a type of metabolic disorder,
NIH Research News, August, 2015
Early liver transplantation for neonatal-onset methylmalonic acidemia.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_vtDSGMI-yEezW7P4xVGYYkjlbjLLdcDfSqDf3al8Q8qcsxBiogiQj8SslVDfzwez2cIM6UbpbkGJDzq1MNEd92BUmj0NVtjfabKOQqWNS3ENvRw7ClRekD=s0-d)
Spada M et al. Pediatrics 2015 Jul (1) e252-6
Spada M et al. Pediatrics 2015 Jul (1) e252-6
Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_vtDSGMI-yEezW7P4xVGYYkjlbjLLdcDfSqDf3al8Q8qcsxBiogiQj8SslVDfzwez2cIM6UbpbkGJDzq1MNEd92BUmj0NVtjfabKOQqWNS3ENvRw7ClRekD=s0-d)
Li M et al. Liver Transpl. 2015 May 19.
Li M et al. Liver Transpl. 2015 May 19.
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_vtDSGMI-yEezW7P4xVGYYkjlbjLLdcDfSqDf3al8Q8qcsxBiogiQj8SslVDfzwez2cIM6UbpbkGJDzq1MNEd92BUmj0NVtjfabKOQqWNS3ENvRw7ClRekD=s0-d)
Ktena YP et al. Am. J. Med. Genet. A 2015 May 10.
Ktena YP et al. Am. J. Med. Genet. A 2015 May 10.
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_vtDSGMI-yEezW7P4xVGYYkjlbjLLdcDfSqDf3al8Q8qcsxBiogiQj8SslVDfzwez2cIM6UbpbkGJDzq1MNEd92BUmj0NVtjfabKOQqWNS3ENvRw7ClRekD=s0-d)
Baumgartner MR et al. Orphanet J Rare Dis 2014 130
Baumgartner MR et al. Orphanet J Rare Dis 2014 130
No hay comentarios:
Publicar un comentario