166 related articles for article (PubMed ID: 30848071)
21. A Case of ECHS1 Deficiency with Severe Encephalopathy and Status Epilepticus after a Propofol Sedation: Case Report.
Preusse M; Paraschaki G; Lutz S
Neuropediatrics; 2022 Jun; 53(3):213-216. PubMed ID: 35098523
[TBL] [Abstract][Full Text] [Related]
22. Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis.
Pena-Burgos EM; Regojo RM; Sáenz de Pipaón M; Santos-Simarro F; Ruiz-Sala P; Pérez B; Esteban-Rodríguez MI
Pediatr Dev Pathol; 2023; 26(2):138-143. PubMed ID: 36515364
[TBL] [Abstract][Full Text] [Related]
23. Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency.
Engelstad K; Salazar R; Koenigsberger D; Stackowtiz E; Brodlie S; Brandabur M; De Vivo DC
Ann Clin Transl Neurol; 2021 May; 8(5):1151-1157. PubMed ID: 33931985
[TBL] [Abstract][Full Text] [Related]
24. ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
Simon MT; Eftekharian SS; Ferdinandusse S; Tang S; Naseri T; Reupena MS; McGarvey ST; Minster RL; Weeks DE; ; Nguyen DD; Lee S; Ellsworth KA; Vaz FM; Dimmock D; Pitt J; Abdenur JE
Am J Med Genet A; 2021 Jan; 185(1):157-167. PubMed ID: 33112498
[TBL] [Abstract][Full Text] [Related]
25. Leigh syndrome: the genetic heterogeneity story continues.
Gerards M
Brain; 2014 Nov; 137(Pt 11):2872-3. PubMed ID: 25344079
[No Abstract] [Full Text] [Related]
26. [3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review].
Zhu H; Bao X; Zhang Y
Zhonghua Er Ke Za Zhi; 2015 Aug; 53(8):626-30. PubMed ID: 26717663
[TBL] [Abstract][Full Text] [Related]
27. Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.
Bernhardt I; Frajman LE; Ryder B; Andersen E; Wilson C; McKeown C; Anderson T; Coman D; Vincent AL; Buchanan C; Roxburgh R; Pitt J; De Hora M; Christodoulou J; Thorburn DR; Wilson F; Drake KM; Leask M; Yardley AM; Merriman T; Robertson S; Compton AG; Glamuzina E
Mol Genet Metab; 2024 May; 142(3):108508. PubMed ID: 38820906
[TBL] [Abstract][Full Text] [Related]
28. Valine metabolites analysis in ECHS1 deficiency.
Kuwajima M; Kojima K; Osaka H; Hamada Y; Jimbo E; Watanabe M; Aoki S; Sato-Shirai I; Ichimoto K; Fushimi T; Murayama K; Ohtake A; Kohda M; Kishita Y; Yatsuka Y; Uchino S; Mimaki M; Miyake N; Matsumoto N; Okazaki Y; Ogata T; Yamagata T; Muramatsu K
Mol Genet Metab Rep; 2021 Dec; 29():100809. PubMed ID: 34667719
[TBL] [Abstract][Full Text] [Related]
29. Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.
Maalej M; Sfaihi L; Fersi OA; Khabou B; Ammar M; Felhi R; Kharrat M; Chouchen J; Kammoun T; Tlili A; Fakhfakh F
Metab Brain Dis; 2024 Apr; 39(4):611-623. PubMed ID: 38363494
[TBL] [Abstract][Full Text] [Related]
30. beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations.
Brown GK; Hunt SM; Scholem R; Fowler K; Grimes A; Mercer JF; Truscott RM; Cotton RG; Rogers JG; Danks DM
Pediatrics; 1982 Oct; 70(4):532-8. PubMed ID: 7122152
[TBL] [Abstract][Full Text] [Related]
31. Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.
Piro E; Serra G; Antona V; Giuffrè M; Giorgio E; Sirchia F; Schierz IAM; Brusco A; Corsello G
Ital J Pediatr; 2020 Sep; 46(1):140. PubMed ID: 32972427
[TBL] [Abstract][Full Text] [Related]
32. Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report.
Uesugi M; Mori J; Fukuhara S; Fujii N; Omae T; Sasai H; Ichimoto K; Murayama K; Osamura T; Hosoi H
Mol Genet Metab Rep; 2020 Dec; 25():100672. PubMed ID: 33163364
[TBL] [Abstract][Full Text] [Related]
33. Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
Carlston CM; Ferdinandusse S; Hobert JA; Mao R; Longo N
JIMD Rep; 2019; 43():103-109. PubMed ID: 29923089
[TBL] [Abstract][Full Text] [Related]
34. Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.
Illsinger S; Korenke GC; Boesch S; Nocker M; Karall D; Nuoffer JM; Laugwitz L; Mayr JA; Scholl-Bürgi S; Freisinger P; Kowald T; Kölker S; Prokisch H; Haack TB
Eur J Med Genet; 2020 Nov; 63(11):104046. PubMed ID: 32858208
[TBL] [Abstract][Full Text] [Related]
35. Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions.
Gilani A; Hove JLV; Thomas JA; Kleinschmidt-DeMasters BK
Pediatr Dev Pathol; 2020; 23(3):189-196. PubMed ID: 31542992
[TBL] [Abstract][Full Text] [Related]
36. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Haack TB; Jackson CB; Murayama K; Kremer LS; Schaller A; Kotzaeridou U; de Vries MC; Schottmann G; Santra S; Büchner B; Wieland T; Graf E; Freisinger P; Eggimann S; Ohtake A; Okazaki Y; Kohda M; Kishita Y; Tokuzawa Y; Sauer S; Memari Y; Kolb-Kokocinski A; Durbin R; Hasselmann O; Cremer K; Albrecht B; Wieczorek D; Engels H; Hahn D; Zink AM; Alston CL; Taylor RW; Rodenburg RJ; Trollmann R; Sperl W; Strom TM; Hoffmann GF; Mayr JA; Meitinger T; Bolognini R; Schuelke M; Nuoffer JM; Kölker S; Prokisch H; Klopstock T
Ann Clin Transl Neurol; 2015 May; 2(5):492-509. PubMed ID: 26000322
[TBL] [Abstract][Full Text] [Related]
37. A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report.
Wen Y; Lu G; Qiao L; Li Y
Mol Genet Genomic Med; 2022 Jan; 10(1):e1852. PubMed ID: 34964562
[TBL] [Abstract][Full Text] [Related]
38. Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.
Masnada S; Parazzini C; Bini P; Barbarini M; Alberti L; Valente M; Chiapparini L; De Silvestri A; Doneda C; Iascone M; Saielli LA; Cereda C; Veggiotti P; Corbetta C; Tonduti D
Eur J Paediatr Neurol; 2020 Sep; 28():151-158. PubMed ID: 32800686
[TBL] [Abstract][Full Text] [Related]
39. 3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations.
Karimzadeh P; Saberi M; Sheidaee K; Nourbakhsh M; Keramatipour M
Clin Case Rep; 2019 Feb; 7(2):375-380. PubMed ID: 30847210
[TBL] [Abstract][Full Text] [Related]
40. Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.
Ronchi D; Monfrini E; Bonato S; Mancinelli V; Cinnante C; Salani S; Bordoni A; Ciscato P; Fortunato F; Villa M; Di Fonzo A; Corti S; Bresolin N; Comi GP
Ann Clin Transl Neurol; 2020 May; 7(5):839-845. PubMed ID: 32329585
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]