193 related articles for article (PubMed ID: 23729548)
1. Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease.
Ali EZ; Yunus ZM; Desa NM; Hock NL
J Pediatr Endocrinol Metab; 2013; 26(9-10):975-80. PubMed ID: 23729548
[TBL] [Abstract][Full Text] [Related]
2. Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease.
Zeynalzadeh M; Tafazoli A; Aarabi A; Moghaddassian M; Ashrafzadeh F; Houshmand M; Taghehchian N; Abbaszadegan MR
J Pediatr Endocrinol Metab; 2018 Jan; 31(2):205-212. PubMed ID: 29306928
[TBL] [Abstract][Full Text] [Related]
3. A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD).
Miryounesi M; Ghafouri-Fard S; Goodarzi H; Fardaei M
J Pediatr Endocrinol Metab; 2015 May; 28(5-6):673-5. PubMed ID: 25381949
[TBL] [Abstract][Full Text] [Related]
4. Molecular genetics of maple syrup urine disease in the Turkish population.
Gorzelany K; Dursun A; Coşkun T; Kalkanoğlu-Sivri SH; Gökçay GF; Demirkol M; Feyen O; Wendel U
Turk J Pediatr; 2009; 51(2):97-102. PubMed ID: 19480318
[TBL] [Abstract][Full Text] [Related]
5. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
Tsuruta M; Mitsubuchi H; Mardy S; Miura Y; Hayashida Y; Kinugasa A; Ishitsu T; Matsuda I; Indo Y
J Hum Genet; 1998; 43(2):91-100. PubMed ID: 9621512
[TBL] [Abstract][Full Text] [Related]
6. Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.
Su L; Lu Z; Li F; Shao Y; Sheng H; Cai Y; Liu L
Metab Brain Dis; 2017 Jun; 32(3):765-772. PubMed ID: 28197878
[TBL] [Abstract][Full Text] [Related]
7. Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).
Wang YP; Qi ML; Li TT; Zhao YJ
Gene; 2012 Apr; 498(1):112-5. PubMed ID: 22326532
[TBL] [Abstract][Full Text] [Related]
8. Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
Quental S; Macedo-Ribeiro S; Matos R; Vilarinho L; Martins E; Teles EL; Rodrigues E; Diogo L; Garcia P; Eusébio F; Gaspar A; Sequeira S; Furtado F; Lança I; Amorim A; Prata MJ
Mol Genet Metab; 2008 Jun; 94(2):148-56. PubMed ID: 18378174
[TBL] [Abstract][Full Text] [Related]
9. Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β.
Bashyam MD; Chaudhary AK; Sinha M; Nagarajaram HA; Devi AR; Bashyam L; Reddy EC; Dalal A
J Cell Biochem; 2012 Oct; 113(10):3122-32. PubMed ID: 22593002
[TBL] [Abstract][Full Text] [Related]
10. Molecular characterization of maple syrup urine disease patients from Tunisia.
Jaafar N; Moleirinho A; Kerkeni E; Monastiri K; Seboui H; Amorim A; Prata MJ; Quental S
Gene; 2013 Mar; 517(1):116-9. PubMed ID: 23313820
[TBL] [Abstract][Full Text] [Related]
11. In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing.
Fernández-Lainez C; Aláez-Verson C; Ibarra-González I; Enríquez-Flores S; Carrillo-Sanchez K; Flores-Lagunes L; Guillén-López S; Belmont-Martínez L; Vela-Amieva M
Clin Chim Acta; 2018 Aug; 483():33-38. PubMed ID: 29673582
[TBL] [Abstract][Full Text] [Related]
12. Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.
Gupta D; Bijarnia-Mahay S; Saxena R; Kohli S; Dua-Puri R; Verma J; Thomas E; Shigematsu Y; Yamaguchi S; Deb R; Verma IC
Eur J Med Genet; 2015 Sep; 58(9):471-8. PubMed ID: 26257134
[TBL] [Abstract][Full Text] [Related]
13. [Maple syrup urine disease caused by two novel BCKDHB gene mutations in a Chinese neonate].
Shen Y; Gong X; Yan J; Qin L; Qiu G
Zhonghua Er Ke Za Zhi; 2015 Jan; 53(1):66-70. PubMed ID: 25748408
[TBL] [Abstract][Full Text] [Related]
14. Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.
Park HD; Lee DH; Hong YH; Kang DH; Lee YK; Song J; Lee SY; Kim JW; Ki CS; Lee YW
Ann Clin Lab Sci; 2011; 41(2):167-73. PubMed ID: 21844576
[TBL] [Abstract][Full Text] [Related]
15. Mutational spectrum of maple syrup urine disease in Spain.
Rodríguez-Pombo P; Navarrete R; Merinero B; Gómez-Puertas P; Ugarte M
Hum Mutat; 2006 Jul; 27(7):715. PubMed ID: 16786533
[TBL] [Abstract][Full Text] [Related]
16. Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations.
Narayanan MP; Menon KN; Vasudevan DM
Indian J Biochem Biophys; 2013 Oct; 50(5):442-6. PubMed ID: 24772966
[TBL] [Abstract][Full Text] [Related]
17. Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.
Henneke M; Flaschker N; Helbling C; Müller M; Schadewaldt P; Gärtner J; Wendel U
Hum Mutat; 2003 Nov; 22(5):417. PubMed ID: 14517957
[TBL] [Abstract][Full Text] [Related]
18. Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease.
Guo Y; Liming L; Jiang L
Metab Brain Dis; 2015 Dec; 30(6):1395-400. PubMed ID: 26239723
[TBL] [Abstract][Full Text] [Related]
19. PPM1K defects cause mild maple syrup urine disease: The second case in the literature.
Ozcelik F; Arslan S; Ozguc Caliskan B; Kardas F; Ozkul Y; Dundar M
Am J Med Genet A; 2023 May; 191(5):1360-1365. PubMed ID: 36706222
[TBL] [Abstract][Full Text] [Related]
20. Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease.
Tammachote R; Tongkobpetch S; Desudchit T; Suphapeetiporn K; Shotelersuk V
J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S33-6. PubMed ID: 19240989
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]