PMC Articles for MedGen (Select 355967) - PMC

Select item 104216741.

Case Series of Ethylmalonic Encephalopathy from Southern India

Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Kapil Jetha, Kiruthiga Sugumar, Meenakshi Bhat, Sanjay K. Shivappa, Maya Bhat, Rita Christopher

J Pediatr Genet. 2023 Sep; 12(3): 213–218. Published online 2021 Dec 6. doi: 10.1055/s-0041-1740370

PMCID:: PMC10421674

Abstract Article PDF–532K

Select item 89589062.

Ethylmalonic encephalopathy masquerading as meningococcemia

Ari Horton, Kai Mun Hong, Dinusha Pandithan, Meredith Allen, Caroline Killick, Stacy Goergen, Amanda Springer, Dean Phelan, Melanie Marty, Rebecca Halligan, Joy Lee, James Pitt, Belinda Chong, John Christodoulou, Sebastian Lunke, Zornitza Stark, Michael Fahey

Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006193. doi: 10.1101/mcs.a006193

PMCID:: PMC8958906

Abstract Article PDF–4.1M

Select item 85186343.

Variants in the ethylmalonyl‐CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?

Sarah Fogh, Graziana Dipace, Anne Bie, Maria Veiga‐da‐Cunha, Jakob Hansen, Margrethe Kjeldsen, Signe Mosegaard, Antonia Ribes, Niels Gregersen, Lars Aagaard, Emile Van Schaftingen, Rikke K. J. Olsen

J Inherit Metab Dis. 2021 Sep; 44(5): 1215–1225. Published online 2021 Jun 8. doi: 10.1002/jimd.12394

PMCID:: PMC8518634

Abstract Article PDF–2.2M

Select item 32348074.

Ethylmalonyl-CoA Decarboxylase, a New Enzyme Involved in Metabolite Proofreading

Carole L. Linster, Gaëtane Noël, Vincent Stroobant, Didier Vertommen, Marie-Françoise Vincent, Guido T. Bommer, Maria Veiga-da-Cunha, Emile Van Schaftingen

J Biol Chem. 2011 Dec 16; 286(50): 42992–43003. Published online 2011 Oct 20. doi: 10.1074/jbc.M111.281527

PMCID:: PMC3234807

Abstract Article PDF–2.5M

Select item 25632335.

ETHE1 mutations are specific to ethylmalonic encephalopathy

V Tiranti, E Briem, E Lamantea, R Mineri, E Papaleo, L De Gioia, F Forlani, P Rinaldo, P Dickson, B Abu‐Libdeh, L Cindro‐Heberle, M Owaidha, R M Jack, E Christensen, A Burlina, M Zeviani

J Med Genet. 2006 Apr; 43(4): 340–346. Published online 2005 Sep 23. doi: 10.1136/jmg.2005.036210

PMCID:: PMC2563233

Abstract Article PDF–688K

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