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
1993 1
2005 1
2006 3
2007 1
2008 1
2012 1
2015 1
2016 1
2017 1
2018 1
2019 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

10 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities"
Page 1
Persistent lactic acidosis in neonatal hypoxic-ischaemic encephalopathy correlates with EEG grade and electrographic seizure burden.
Murray DM, Boylan GB, Fitzgerald AP, Ryan CA, Murphy BP, Connolly S. Murray DM, et al. Arch Dis Child Fetal Neonatal Ed. 2008 May;93(3):F183-6. doi: 10.1136/adc.2006.100800. Epub 2006 Nov 28. Arch Dis Child Fetal Neonatal Ed. 2008. PMID: 17132680
OBJECTIVE: To determine whether lactic acidosis at birth in asphyxiated neonates could predict the grade of EEG encephalopathy by examining the relationship between time taken for the normalisation of lactate, severity of encephalopath …
OBJECTIVE: To determine whether lactic acidosis at birth in asphyxiated neonates could predict the grade of EEG …
A family segregating lethal neonatal coenzyme Q(10) deficiency caused by mutations in COQ9.
Smith AC, Ito Y, Ahmed A, Schwartzentruber JA, Beaulieu CL, Aberg E, Majewski J, Bulman DE, Horsting-Wethly K, Koning DV; Care4Rare Canada Consortium; Rodenburg RJ, Boycott KM, Penney LS. Smith AC, et al. J Inherit Metab Dis. 2018 Jul;41(4):719-729. doi: 10.1007/s10545-017-0122-7. Epub 2018 Mar 20. J Inherit Metab Dis. 2018. PMID: 29560582
The first and third pregnancy resulted in live born babies with abnormal tone who developed severe, treatment unresponsive lactic acidosis after birth and died hours later. Autopsy on one of the siblings demonstrated brain changes suggestive of …
The first and third pregnancy resulted in live born babies with abnormal tone who developed severe, treatment unresponsive …
Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel role for FBXL4 as a regulator of mitochondrial fusion.
Sabouny R, Wong R, Lee-Glover L, Greenway SC, Sinasac DS; Care4Rare Canada; Khan A, Shutt TE. Sabouny R, et al. Biochim Biophys Acta Mol Basis Dis. 2019 Nov 1;1865(11):165536. doi: 10.1016/j.bbadis.2019.165536. Epub 2019 Aug 20. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 31442532 Free article.
We report two siblings, from consanguineous parents, harbouring a previously uncharacterized homozygous variant in FBXL4 (c.1750 T > C; p.Cys584Arg). Both patients presented with encephalomyopathy, lactic acidosis and cardiac hypertrophy, which are reported featu …
We report two siblings, from consanguineous parents, harbouring a previously uncharacterized homozygous variant in FBXL4 (c.1750 T > C; p …
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
Tegelberg S, Tomašić N, Kallijärvi J, Purhonen J, Elmér E, Lindberg E, Nord DG, Soller M, Lesko N, Wedell A, Bruhn H, Freyer C, Stranneheim H, Wibom R, Nennesmo I, Wredenberg A, Eklund EA, Fellman V. Tegelberg S, et al. Orphanet J Rare Dis. 2017 Apr 20;12(1):73. doi: 10.1186/s13023-017-0624-2. Orphanet J Rare Dis. 2017. PMID: 28427446 Free PMC article.
BACKGROUND: Mitochondrial diseases due to defective respiratory chain complex III (CIII) are relatively uncommon. ...The pathogenicity of one of the mutations was unexpected and points to the importance of combining next generation sequencing with a biochemical approach wh …
BACKGROUND: Mitochondrial diseases due to defective respiratory chain complex III (CIII) are relatively uncommon. ...The pathogenicit …
Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.
García-Cazorla A, Rabier D, Touati G, Chadefaux-Vekemans B, Marsac C, de Lonlay P, Saudubray JM. García-Cazorla A, et al. Ann Neurol. 2006 Jan;59(1):121-7. doi: 10.1002/ana.20709. Ann Neurol. 2006. PMID: 16278852
Hypoglycemia, lactic acidosis, and hypercitrullinemia were invariably found. Hyperammoniemia, hypernatremia, and high proline and lysine were frequently detected. ...Abnormal movements such as rigidity and hypokinesia (hypokinetic-rigid syndrome) are an impor …
Hypoglycemia, lactic acidosis, and hypercitrullinemia were invariably found. Hyperammoniemia, hypernatremia, and high proline …
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.
Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M. Valente L, et al. Am J Hum Genet. 2007 Jan;80(1):44-58. doi: 10.1086/510559. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160893 Free PMC article.
Genetic investigation involving patients with defective mitochondrial translation led us to the discovery of novel mutations in the mitochondrial elongation factor G1 (EFG1) in one affected baby and, for the first time, in the mitochondrial elongation factor Tu (EFTu) in another …
Genetic investigation involving patients with defective mitochondrial translation led us to the discovery of novel mutations in the mitochon …
Moderate hypothermia within 6 h of birth plus inhaled xenon versus moderate hypothermia alone after birth asphyxia (TOBY-Xe): a proof-of-concept, open-label, randomised controlled trial.
Azzopardi D, Robertson NJ, Bainbridge A, Cady E, Charles-Edwards G, Deierl A, Fagiolo G, Franks NP, Griffiths J, Hajnal J, Juszczak E, Kapetanakis B, Linsell L, Maze M, Omar O, Strohm B, Tusor N, Edwards AD. Azzopardi D, et al. Lancet Neurol. 2016 Feb;15(2):145-153. doi: 10.1016/S1474-4422(15)00347-6. Epub 2015 Dec 19. Lancet Neurol. 2016. PMID: 26708675 Free PMC article. Clinical Trial.
METHODS: Total Body hypothermia plus Xenon (TOBY-Xe) was a proof-of-concept, randomised, open-label, parallel-group trial done at four intensive-care neonatal units in the UK. Eligible infants were 36-43 weeks of gestational age, had signs of moderate to severe e …
METHODS: Total Body hypothermia plus Xenon (TOBY-Xe) was a proof-of-concept, randomised, open-label, parallel-group trial done at four inten …
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
DeBrosse SD, Okajima K, Zhang S, Nakouzi G, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS. DeBrosse SD, et al. Mol Genet Metab. 2012 Nov;107(3):394-402. doi: 10.1016/j.ymgme.2012.09.001. Epub 2012 Sep 7. Mol Genet Metab. 2012. PMID: 23021068
Of these, 91% (21/23) died before age 4 years, 61% (14/23) before 1 year, and 43% (10/23) before 3 months. 56% of males died compared with 25% of females. Causes of death included severe lactic acidosis, respiratory failure, and infection. In subjects survivi …
Of these, 91% (21/23) died before age 4 years, 61% (14/23) before 1 year, and 43% (10/23) before 3 months. 56% of males died compared with 2 …
Neuropathological findings of a patient with pyruvate dehydrogenase E1 alpha deficiency presenting as a cerebral lactic acidosis.
Michotte A, De Meirleir L, Lissens W, Denis R, Wayenberg JL, Liebaers I, Brucher JM. Michotte A, et al. Acta Neuropathol. 1993;85(6):674-8. doi: 10.1007/BF00334680. Acta Neuropathol. 1993. PMID: 8337946
Neuropathological findings are reported of a 6-month-old female child with a "cerebral" lactic acidosis. A mutation in the pyruvate dehydrogenase (PDH) E1 alpha gene was found. ...To our knowledge these cerebellar and vascular abnormalities have not been repo …
Neuropathological findings are reported of a 6-month-old female child with a "cerebral" lactic acidosis. A mutation in the pyr …
Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.
Mochel F, DeLonlay P, Touati G, Brunengraber H, Kinman RP, Rabier D, Roe CR, Saudubray JM. Mochel F, et al. Mol Genet Metab. 2005 Apr;84(4):305-12. doi: 10.1016/j.ymgme.2004.09.007. Mol Genet Metab. 2005. PMID: 15781190
A six-day-old girl was referred for severe hepatic failure, dehydratation, axial hypotonia, and both lactic acidosis and ketoacidosis. ...Triheptanoin, an odd-carbon triglyceride, was administrated as a source for acetyl-CoA and anaplerotic propionyl-CoA. Alt …
A six-day-old girl was referred for severe hepatic failure, dehydratation, axial hypotonia, and both lactic acidosis an …