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4. A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder-Sengers Syndrome. Prabu RV; Priyambada P; Ranjini H; Wasnik RB Indian J Ophthalmol; 2020 Nov; 68(11):2567-2569. PubMed ID: 33120694 [TBL] [Abstract][Full Text] [Related]
5. Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex. Kang Y; Stroud DA; Baker MJ; De Souza DP; Frazier AE; Liem M; Tull D; Mathivanan S; McConville MJ; Thorburn DR; Ryan MT; Stojanovski D Mol Cell; 2017 Aug; 67(3):457-470.e5. PubMed ID: 28712726 [TBL] [Abstract][Full Text] [Related]
6. Long term follow-up in two siblings with Sengers syndrome: Case report. Panicucci C; Schiaffino MC; Nesti C; Derchi M; Trocchio G; Severino M; Stagnaro N; Priolo E; Zara F; Santorelli FM; Bruno C Ital J Pediatr; 2022 Oct; 48(1):180. PubMed ID: 36253788 [TBL] [Abstract][Full Text] [Related]
9. A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy. Fan P; Yang KQ; Han B; Kong D; Yin WH; Li JH; Yang ZX; Niu LL; Fu CS; Rong CZ; Lin YH; Wang H; Zhou XL; Gao LG; Qin XC; Tian T Pediatr Res; 2023 Aug; 94(2):683-690. PubMed ID: 36759750 [TBL] [Abstract][Full Text] [Related]
10. Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases. Wu CW; Caha M; Smoot L; Harris DJ; Roberts AE; Sacharow S; Bodamer O Mol Genet Metab; 2023 Jul; 139(3):107626. PubMed ID: 37354892 [TBL] [Abstract][Full Text] [Related]
11. Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria. Vukotic M; Nolte H; König T; Saita S; Ananjew M; Krüger M; Tatsuta T; Langer T Mol Cell; 2017 Aug; 67(3):471-483.e7. PubMed ID: 28712724 [TBL] [Abstract][Full Text] [Related]
12. Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome. Barbosa-Gouveia S; Vázquez-Mosquera ME; Gonzalez-Vioque E; Hermida-Ameijeiras Á; Valverde LL; Armstrong-Moron J; Fons-Estupiña MDC; Wintjes LT; Kappen A; Rodenburg RJ; Couce ML Int J Mol Sci; 2021 Dec; 22(24):. PubMed ID: 34948281 [TBL] [Abstract][Full Text] [Related]
13. Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in Wang B; Du Z; Shan G; Yan C; Zhang VW; Li Z Front Pediatr; 2021; 9():639687. PubMed ID: 34164355 [TBL] [Abstract][Full Text] [Related]
14. Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction. Beck DB; Cusmano-Ozog K; Andescavage N; Leon E Transl Sci Rare Dis; 2018 Apr; 3(1):45-48. PubMed ID: 29682452 [TBL] [Abstract][Full Text] [Related]
15. Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome. Morava E; Sengers R; Ter Laak H; Van Den Heuvel L; Janssen A; Trijbels F; Cruysberg H; Boelen C; Smeitink J Eur J Pediatr; 2004 Aug; 163(8):467-71. PubMed ID: 15168109 [TBL] [Abstract][Full Text] [Related]
16. Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Aldahmesh MA; Khan AO; Mohamed JY; Alghamdi MH; Alkuraya FS Hum Mutat; 2012 Jun; 33(6):960-2. PubMed ID: 22415731 [TBL] [Abstract][Full Text] [Related]
17. Sengers syndrome: a rare case of cardiomyopathy combined with congenital cataracts in an infant: post-mortem case report. Fnon NF; Hassan HH; Ali HM; Sobh ZK Cardiovasc Pathol; 2021; 54():107371. PubMed ID: 34274418 [TBL] [Abstract][Full Text] [Related]
18. Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? Gumus E Ophthalmic Genet; 2018 Jun; 39(3):391-395. PubMed ID: 29419336 [TBL] [Abstract][Full Text] [Related]
19. The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism. Jackson TD; Hock DH; Fujihara KM; Palmer CS; Frazier AE; Low YC; Kang Y; Ang CS; Clemons NJ; Thorburn DR; Stroud DA; Stojanovski D Mol Biol Cell; 2021 Mar; 32(6):475-491. PubMed ID: 33476211 [TBL] [Abstract][Full Text] [Related]
20. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. Kanabus M; Shahni R; Saldanha JW; Murphy E; Plagnol V; Hoff WV; Heales S; Rahman S J Inherit Metab Dis; 2015 Mar; 38(2):211-9. PubMed ID: 25595726 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]