Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2004 1
2007 1
2009 1
2011 1
2012 2
2013 1
2016 3
2018 1
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

12 results

Results by year

Filters applied: . Clear all
Page 1
Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient.
Olivieri G, Martinelli D, Longo D, Grimaldi C, Liccardo D, Di Meo I, Pietrobattista A, Sidorina A, Semeraro M, Dionisi-Vici C. Olivieri G, et al. Orphanet J Rare Dis. 2021 May 19;16(1):229. doi: 10.1186/s13023-021-01867-5. Orphanet J Rare Dis. 2021. PMID: 34011365 Free PMC article.
RESULTS: Neurological signs initially reverted, with a clinical stabilization during the entire follow-up course. Accordingly, gross motor functions improved and then stabilized. ...CONCLUSIONS: The long-term follow-up of the first EE transplanted patient demonstrates that …
RESULTS: Neurological signs initially reverted, with a clinical stabilization during the entire follow-up course. Accordingly, gross …
Ethylmalonic encephalopathy: clinical and biochemical observations.
Zafeiriou DI, Augoustides-Savvopoulou P, Haas D, Smet J, Triantafyllou P, Vargiami E, Tamiolaki M, Gombakis N, van Coster R, Sewell AC, Vianey-Saban C, Gregersen N. Zafeiriou DI, et al. Neuropediatrics. 2007 Apr;38(2):78-82. doi: 10.1055/s-2007-984447. Neuropediatrics. 2007. PMID: 17712735
Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.
Boyer M, Sowa M, Di Meo I, Eftekharian S, Steenari MR, Tiranti V, Abdenur JE. Boyer M, et al. Mol Genet Metab. 2018 May;124(1):57-63. doi: 10.1016/j.ymgme.2018.02.008. Epub 2018 Feb 14. Mol Genet Metab. 2018. PMID: 29526615
She demonstrated improved biomarkers (EMA, lactic acid and thiosulfate) and an attenuated clinical course. Patient 2 was started on a low methionine and cysteine diet at 8 months of age utilizing SOD Anamix Early Years, (Nutricia). ...
She demonstrated improved biomarkers (EMA, lactic acid and thiosulfate) and an attenuated clinical course. Patient 2 was started on a …
Ethylmalonic Encephalopathy in an Indian Boy.
Bijarnia-Mahay S, Gupta D, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Indian Pediatr. 2016 Oct 8;53(10):914-916. doi: 10.1007/s13312-016-0959-0. Indian Pediatr. 2016. PMID: 27771676 Free article.
Clinical heterogeneity in ethylmalonic encephalopathy.
Pigeon N, Campeau PM, Cyr D, Lemieux B, Clarke JT. Pigeon N, et al. J Child Neurol. 2009 Aug;24(8):991-6. doi: 10.1177/0883073808331359. Epub 2009 Mar 16. J Child Neurol. 2009. PMID: 19289697
At 10 years of age, they have severe axial hypotonia but never displayed petechiae, orthostatic acrocyanosis, or chronic diarrhea. Their clinical courses differ markedly; one had an episode of coma when she was 3 years old and now has spastic quadraparesis and cannot speak …
At 10 years of age, they have severe axial hypotonia but never displayed petechiae, orthostatic acrocyanosis, or chronic diarrhea. Their cli …
Ethylmalonic encephalopathy: further clinical and neuroradiological characterization.
Grosso S, Mostardini R, Farnetani MA, Molinelli M, Berardi R, Dionisi-Vici C, Rizzo C, Morgese G, Balestri P. Grosso S, et al. J Neurol. 2002 Oct;249(10):1446-50. doi: 10.1007/s00415-002-0880-4. J Neurol. 2002. PMID: 12382164
We report on two patients affected by EE who showed different clinical and neuroradiological patterns. Patient 1 presented with a chronic clinical course characterized by very slow neuromotor deterioration, ataxia, and dysarthria. ...On the basis of our observations, we re …
We report on two patients affected by EE who showed different clinical and neuroradiological patterns. Patient 1 presented with a chronic cl …
Ethylmalonic encephalopathy associated with crescentic glomerulonephritis.
Dweikat I, Naser E, Damsah N, Libdeh BA, Bakri I. Dweikat I, et al. Metab Brain Dis. 2012 Dec;27(4):613-6. doi: 10.1007/s11011-012-9313-y. Epub 2012 May 15. Metab Brain Dis. 2012. PMID: 22584649
Its presence is a serious complication associated with poor prognosis and may be explained by the diffuse vascular damage....
Its presence is a serious complication associated with poor prognosis and may be explained by the diffuse vascular damage....
Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.
Dionisi-Vici C, Diodato D, Torre G, Picca S, Pariante R, Giuseppe Picardo S, Di Meo I, Rizzo C, Tiranti V, Zeviani M, De Ville De Goyet J. Dionisi-Vici C, et al. Brain. 2016 Apr;139(Pt 4):1045-51. doi: 10.1093/brain/aww013. Epub 2016 Feb 25. Brain. 2016. PMID: 26917598
In mice with ethylmalonic encephalopathy, liver-targeted adeno-associated virus-mediated ETHE1 gene transfer dramatically improved both clinical course and metabolic abnormalities. Reasoning that the same achievement could be accomplished by liver transplantation, we perfo …
In mice with ethylmalonic encephalopathy, liver-targeted adeno-associated virus-mediated ETHE1 gene transfer dramatically improved both clin …
12 results