126 related articles for article (PubMed ID: 28482397)
1. [MEGDEL syndrome with an SERAC1 mutation: a case report].
Chen J; Peng J; Yin F
Zhonghua Er Ke Za Zhi; 2017 May; 55(5):394-395. PubMed ID: 28482397
[No Abstract] [Full Text] [Related]
2. Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability.
Radha Rama Devi A; Lingappa L
Eur J Med Genet; 2018 Feb; 61(2):100-103. PubMed ID: 28778788
[TBL] [Abstract][Full Text] [Related]
3. Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation.
Ünal Ö; Özgül RK; Yücel D; Yalnızoğlu D; Tokatlı A; Sivri HS; Hişmi B; Coşkun T; Dursun A
Turk J Pediatr; 2015; 57(4):388-393. PubMed ID: 27186703
[TBL] [Abstract][Full Text] [Related]
4. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.
Sarig O; Goldsher D; Nousbeck J; Fuchs-Telem D; Cohen-Katsenelson K; Iancu TC; Manov I; Saada A; Sprecher E; Mandel H
Am J Med Genet A; 2013 Sep; 161A(9):2204-15. PubMed ID: 23918762
[TBL] [Abstract][Full Text] [Related]
5. MEGDEL Syndrome: Expanding the Phenotype and New Mutations.
Sequeira S; Rodrigues M; Jacinto S; Wevers RA; Wortmann SB
Neuropediatrics; 2017 Oct; 48(5):382-384. PubMed ID: 28505671
[No Abstract] [Full Text] [Related]
6. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.
Tort F; García-Silva MT; Ferrer-Cortès X; Navarro-Sastre A; Garcia-Villoria J; Coll MJ; Vidal E; Jiménez-Almazán J; Dopazo J; Briones P; Elpeleg O; Ribes A
Mol Genet Metab; 2013; 110(1-2):73-7. PubMed ID: 23707711
[TBL] [Abstract][Full Text] [Related]
7. Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome.
Snanoudj S; Mordel P; Dupas Q; Schanen C; Arion A; Gérard M; Read MH; Nait Rabah D; Goux D; Chapon F; Jokic M; Allouche S
Mol Genet Genomic Med; 2019 Aug; 7(8):e815. PubMed ID: 31251474
[TBL] [Abstract][Full Text] [Related]
8. First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.
Rodríguez-García ME; Martín-Hernández E; de Aragón AM; García-Silva MT; Quijada-Fraile P; Arenas J; Martín MA; Martínez-Azorín F
Neurogenetics; 2016 Jan; 17(1):51-6. PubMed ID: 26445863
[TBL] [Abstract][Full Text] [Related]
9. MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene.
Dweikat IM; Abdelrazeq S; Ayesh S; Jundi T
J Child Neurol; 2015 Jul; 30(8):1053-6. PubMed ID: 25051967
[TBL] [Abstract][Full Text] [Related]
10. Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1.
Fellman V; Banerjee R; Lin KL; Pulli I; Cooper H; Tyynismaa H; Kallijärvi J
Biochim Biophys Acta Mol Basis Dis; 2022 Jan; 1868(1):166298. PubMed ID: 34751152
[TBL] [Abstract][Full Text] [Related]
11. [Two cases of MEGDEL syndrome due to variants of SERAC1 gene and a literature review].
Lin X; Lin X; Yan Z; Chen Y; Chen S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Sep; 40(9):1100-1106. PubMed ID: 37643955
[TBL] [Abstract][Full Text] [Related]
12. MEGDEL Syndrome.
Finsterer J; Scorza FA; Fiorini AC; Scorza CA
Pediatr Neurol; 2020 Sep; 110():25-29. PubMed ID: 32684373
[TBL] [Abstract][Full Text] [Related]
13. Hepatic histologic findings in a case of MEGDHEL syndrome due to SERAC1 deficiency.
Yuen L; Sahai I; O'Grady L; Selig M; Walker MA; Shah U; Misdraji J
Am J Med Genet A; 2022 Sep; 188(9):2760-2765. PubMed ID: 35781780
[TBL] [Abstract][Full Text] [Related]
14. [Clinical and molecular genetic analysis of a case of MEGDEL syndrome].
Zhang X; Li D; Lyu N; Yang J; Yang C; Zhang X; Ma W; Li D
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Mar; 38(3):271-274. PubMed ID: 33751540
[TBL] [Abstract][Full Text] [Related]
15. SERAC1 gene mutation presented with markedly alpha fetoprotein elevation: case report.
Bayrak H; Sezer A; Danış A; Özhan SH; Yıldız H; Kılıç M
Acta Neurol Belg; 2024 Feb; 124(1):307-309. PubMed ID: 37306826
[No Abstract] [Full Text] [Related]
16. Dystonia is a Common Phenotypic Feature of MEGDEL Syndrome.
Finsterer J; Scorza FA; Fiorini AC; Scorza CA; Almeida AC
Tremor Other Hyperkinet Mov (N Y); 2018; 8():568. PubMed ID: 29971201
[TBL] [Abstract][Full Text] [Related]
17. Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome.
Giron C; Roze E; Degos B; Méneret A; Jardel C; Lannuzel A; Mochel F
Tremor Other Hyperkinet Mov (N Y); 2018; 8():554. PubMed ID: 29686941
[TBL] [Abstract][Full Text] [Related]
18. SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA.
Fang H; Xie A; Du M; Li X; Yang K; Fu Y; Yuan X; Fan R; Yu W; Zhou Z; Sang T; Nie K; Li J; Zhao Q; Chen Z; Yang Y; Hong C; Lyu J
Sci Transl Med; 2022 Mar; 14(634):eabl6992. PubMed ID: 35235340
[TBL] [Abstract][Full Text] [Related]
19. Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
Wortmann SB; Espeel M; Almeida L; Reimer A; Bosboom D; Roels F; de Brouwer AP; Wevers RA
J Inherit Metab Dis; 2015 Jan; 38(1):99-110. PubMed ID: 25178427
[TBL] [Abstract][Full Text] [Related]
20. Variation in protein structure and inborn errors in metabolism.
Poole AE
Dent Clin North Am; 1975 Jan; 19(1):47-62. PubMed ID: 803265
[No Abstract] [Full Text] [Related]
[Next] [New Search]
