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Items: 1 to 20 of 306

1.

Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.

Flaschker N, Feyen O, Fend S, Simon E, Schadewaldt P, Wendel U.

J Inherit Metab Dis. 2007 Nov;30(6):903-9. Epub 2007 Oct 8.

PMID:
17922217
2.

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 Mar-Apr;51(2):97-102. Erratum in: Turk J Pediatr. 2009 Sep-Oct;51(5):525.

PMID:
19480318
3.

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.

PMID:
16786533
4.

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 Spring;41(2):167-73.

PMID:
21844576
5.

Analysis of gene mutations in Chinese patients with maple syrup urine disease.

Yang N, Han L, Gu X, Ye J, Qiu W, Zhang H, Gong Z, Zhang Y.

Mol Genet Metab. 2012 Aug;106(4):412-8. doi: 10.1016/j.ymgme.2012.05.023. Epub 2012 Jun 6.

PMID:
22727569
6.

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.

PMID:
14517957
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 25;498(1):112-5. doi: 10.1016/j.gene.2012.01.082. Epub 2012 Feb 3.

PMID:
22326532
8.

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.

PMID:
24772966
9.

Identification of two novel BCKDHA mutations in a Chinese patient with maple syrup urine disease.

Wang J, Liu H, Chen G, Tsuei SH, Yu T, Fu Q.

J Pediatr Endocrinol Metab. 2011;24(9-10):827-9.

PMID:
22145486
10.

Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination.

Quental S, Martins E, Vilarinho L, Amorim A, João Prata M.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S457-60. doi: 10.1007/s10545-008-1046-z. Epub 2008 Dec 16.

PMID:
19085071
11.

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. doi: 10.1002/jcb.24189.

PMID:
22593002
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. doi: 10.1016/j.ejmg.2015.08.002. Epub 2015 Aug 7.

PMID:
26257134
13.

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. doi: 10.1007/s10545-009-1022-2. Epub 2009 Feb 24.

PMID:
19240989
14.

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.

PMID:
9621512
15.

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 15;517(1):116-9. doi: 10.1016/j.gene.2012.12.097. Epub 2013 Jan 9.

PMID:
23313820
17.

[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. Chinese.

PMID:
25748408
18.

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. doi: 10.1515/jpem-2014-0341.

PMID:
25381949
19.

Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.

Fernández-Guerra P, Navarrete R, Weisiger K, Desviat LR, Packman S, Ugarte M, Rodríguez-Pombo P.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S191-8. doi: 10.1007/s10545-010-9077-7. Epub 2010 Apr 30.

PMID:
20431954
20.

Maple syrup urine disease: it has come a long way.

Chuang DT.

J Pediatr. 1998 Mar;132(3 Pt 2):S17-23. Review.

PMID:
9546032

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