Development of a robust 30-minute reverse-phase high pressure liquid chromatography method to measure amino acids using widely available equipment and its comparison to current clinical ion-exchange chromatography measurement

Autor: G. Cunningham, Yun Zhou, M. Summar

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100868- (2022)

We have developed a fast and accurate method that uses a small volume of sample to determine over 25 of the typically reported amino acids in human plasma. Samples were prepped with a single step using a spin filter to remove proteins, avoiding the d

Externí odkaz: https://doaj.org/article/d233715b76354311b009a1c291d88157

A novel small molecule approach for the treatment of propionic and methylmalonic acidemias

Autor: Brian A. Johns, Christin A. Hamilton, Allison J. Armstrong, Robert A. Figler, Maria Sol Collado, Taylor D. Pourtaheri, Brad R. Henke, Marshall M. Summar, Stephen A. Hoang, Kimberly A. Chapman, John E. Reardon, Brian R. Wamhoff, Matthew W. Olson

Publikováno v: Mol Genet Metab

Propionic Acidemia (PA) and Methylmalonic Acidemia (MMA) are inborn errors of metabolism affecting the catabolism of valine, isoleucine, methionine, threonine and odd-chain fatty acids. These are multi-organ disorders caused by the enzymatic deficien

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba2d2bba59a2136c64aeca4cb4d67b68
https://doi.org/10.1016/j.ymgme.2021.03.001

Molecular Characterization of Carbamoyl-Phosphate Synthetase (CPS1) Deficiency Using Human Recombinant CPS1 as a Key Tool (vol 34, pg 1149, 2013)

Autor: C. DIEZ-FERNANDEZ, A. MARTINEZ, S. PEKKALA, B. BARCELONA, I. PEREZ-ARELLANO, A. GUADALAJARA, M. SUMMAR, J. CERVERA, V. RUBIO

Publikováno v: HUMAN MUTATION
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0525b45014a5a950364e4e386fe24f00
https://fundanet.cipf.es/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=2859

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