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
1994 2
1997 1
1999 1
2000 1
2001 1
2003 1
2005 1
2006 2
2008 1
2010 1
2011 1
2014 1
2016 1
2017 1
2020 2
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

18 results

Results by year

Filters applied: . Clear all
Page 1
Ethylmalonic encephalopathy masquerading as meningococcemia.
Horton A, Hong KM, Pandithan D, Allen M, Killick C, Goergen S, Springer A, Phelan D, Marty M, Halligan R, Lee J, Pitt J, Chong B, Christodoulou J, Lunke S, Stark Z, Fahey M. Horton A, et al. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006193. doi: 10.1101/mcs.a006193. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35165146 Free PMC article.
Capillary electrophoresis with capacitively coupled contactless conductivity detection for the determination of urinary ethylmalonic acid for the diagnosis of ethylmalonic aciduria.
Özçelik S, Öztekin N, Kıykım E, Cansever MŞ, Aktuğlu-Zeybek AÇ. Özçelik S, et al. J Sep Sci. 2020 Apr;43(7):1365-1371. doi: 10.1002/jssc.201901044. Epub 2020 Feb 9. J Sep Sci. 2020. PMID: 31958360
Ethylmalonic acid is a metabolic organic acid, and its accumulation in urine is diagnostic of ethylmalonic aciduria. In this study, a simple and fast method employing capillary electrophoresis equipped with capacitively coupled contactless conductivity detection was …
Ethylmalonic acid is a metabolic organic acid, and its accumulation in urine is diagnostic of ethylmalonic aciduria. In this s …
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.
Gregersen N, Andresen BS, Bross P. Gregersen N, et al. Eur J Pediatr. 2000 Dec;159 Suppl 3:S213-8. doi: 10.1007/pl00014406. Eur J Pediatr. 2000. PMID: 11216903 Review.
In MCAD deficiency the analysis confirms the conventional wisdom that individuals carrying the prevalent 985A > G mutation are at risk of developing life-threatening attacks. In SCAD/ethylmalonic aciduria, on the other hand, the presence of the prevalent suscepti …
In MCAD deficiency the analysis confirms the conventional wisdom that individuals carrying the prevalent 985A > G mutation are at risk of …
Clinical and neuropathological picture of ethylmalonic aciduria - diagnostic dilemma.
Jamroz E, Paprocka J, Adamek D, Pytel J, Szczechowska K, Grabska N, Malec M, Głuszkiewicz E, Daab M, Wodołażski A. Jamroz E, et al. Folia Neuropathol. 2011;49(1):71-7. Folia Neuropathol. 2011. PMID: 21455846 Free article.
The authors present an 8-month-old girl with a suspicion of neuroinfection, although the clinical presentation led to diagnosis of ethylmalonic aciduria. From the neuropathological point of view the most remarkable changes were observed in the brain cortex, which wa …
The authors present an 8-month-old girl with a suspicion of neuroinfection, although the clinical presentation led to diagnosis of ethylm …
Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria.
García-Silva MT, Ribes A, Campos Y, Garavaglia B, Arenas J. García-Silva MT, et al. Pediatr Neurol. 1997 Sep;17(2):165-70. doi: 10.1016/s0887-8994(97)00048-9. Pediatr Neurol. 1997. PMID: 9367300
We report a boy 20 months of age with encephalopathy, petechiae, and ethylmalonic aciduria (EPEMA). Other clinical features were severe hypotonia, orthostatic acrocyanosis, and chronic diarrhea. ...
We report a boy 20 months of age with encephalopathy, petechiae, and ethylmalonic aciduria (EPEMA). Other clinical features we …
Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.
Pedersen CB, Zolkipli Z, Vang S, Palmfeldt J, Kjeldsen M, Stenbroen V, Schmidt SP, Wanders RJ, Ruiter JP, Wibrand F, Tein I, Gregersen N. Pedersen CB, et al. J Inherit Metab Dis. 2010 Jun;33(3):211-22. doi: 10.1007/s10545-010-9086-6. Epub 2010 May 5. J Inherit Metab Dis. 2010. PMID: 20443061
We hypothesize that mitochondrial dysfunction also contributes to the neuromuscular symptoms observed in patients with ethylmalonic aciduria and homozygosity for ACADS c.625G>A-a common variant of the short-chain acyl-coenzyme A (CoA) dehydrogenase (SCAD) enzyme …
We hypothesize that mitochondrial dysfunction also contributes to the neuromuscular symptoms observed in patients with ethylmalonic …
ETHE1 mutations are specific to ethylmalonic encephalopathy.
Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberle L, Owaidha M, Jack RM, Christensen E, Burlina A, Zeviani M. Tiranti V, et al. J Med Genet. 2006 Apr;43(4):340-6. doi: 10.1136/jmg.2005.036210. Epub 2005 Sep 23. J Med Genet. 2006. PMID: 16183799 Free PMC article.
To investigate to what extent ETHE1 is responsible for EE, we analysed this gene in 29 patients with typical EE and in 11 patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria (non-EE EMA). Frameshift, stop, splice site, and miss …
To investigate to what extent ETHE1 is responsible for EE, we analysed this gene in 29 patients with typical EE and in 11 patients presentin …
Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges.
Yunus ZM, Rahman SA, Choy YS, Keng WT, Ngu LH. Yunus ZM, et al. J Pediatr Endocrinol Metab. 2016 Sep 1;29(9):1031-9. doi: 10.1515/jpem-2016-0028. J Pediatr Endocrinol Metab. 2016. PMID: 27544719
Eight newborns were confirmed to have IEM: two newborns with Maple syrup urine disease (MSUD), two with methylmalonic aciduria (MMA) one with ethylmalonic aciduria, two with argininosuccinic aciduria and one with isovaleric aciduria. ...
Eight newborns were confirmed to have IEM: two newborns with Maple syrup urine disease (MSUD), two with methylmalonic aciduria (MMA) one wit …
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N. Corydon MJ, et al. Pediatr Res. 2001 Jan;49(1):18-23. doi: 10.1203/00006450-200101000-00008. Pediatr Res. 2001. PMID: 11134486
Less than 10 patients have been reported, diagnosed on the basis of ethylmalonic aciduria and low SCAD activity in cultured fibroblast. However, mild ethylmalonic aciduria, a biochemical marker of functional SCAD deficiency in vivo, is a common finding …
Less than 10 patients have been reported, diagnosed on the basis of ethylmalonic aciduria and low SCAD activity in cultured fi …
18 results