| 1 | BCKDHA, MSUD1A
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| Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.
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| Stojiljkovic M, Klaassen K, Djordjevic M, Sarajlija A, Brasil S, Kecman B, Grkovic S, Kostic J, Rodriguez-Pombo P, Desviat LR, Pavlovic S, Perez B.
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| Clin Genet 90(3):252-7. doi: 10.1111/cge.12751. Epub 2016 Mar 4.
2016
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| 2 | BCKDHA, MSUD1A
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| Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.
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| Li X, Ding Y, Liu Y, Ma Y, Song J, Wang Q, Li M, Qin Y, Yang Y.
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| Eur J Med Genet 58(11):617-23. doi: 10.1016/j.ejmg.2015.10.002. Epub 2015 Oct 8.
2015
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| 3 | BCKDHA, BCKDK, BCKDKD
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| Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
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| Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG.
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| Science 338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6.
2012
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| 4 | BCKDHA, MSUD1A
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| Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.
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| Park HD, Lee DH, Hong YH, Kang DH, Lee YK, Song J, Lee SY, Kim JW, Ki CS, Lee YW.
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| Ann Clin Lab Sci 41(2):167-73.
2011
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| 5 | BCKDHA, MSUD1A
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| Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination.
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| Quental S, Martins E, Vilarinho L, Amorim A, João Prata M.
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| J Inherit Metab Dis 31 Suppl 2:S457-60. doi: 10.1007/s10545-008-1046-z. Epub 2008 Dec 16.
2008
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| 6 | BCKDHA, BCKDHB, DBT, MSUD1A, MSUD1B, MSUD2
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| Mutational spectrum of maple syrup urine disease in Spain.
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| Rodriguez-Pombo P, Navarrete R, Merinero B, Gomez-Puertas P, Ugarte M.
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| Hum Mutat 27(7):715. 2006
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| 7 | BCKDHA, BCKDHB, DBT, MSUD1A, MSUD1B, MSUD2
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| Lessons from genetic disorders of branched-chain amino acid metabolism.
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| Chuang DT, Chuang JL, Wynn RM.
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| J Nutr 136(1 Suppl):243S-9S. Review. 2006
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| 8 | BCKDHA, MSUD1A
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| Evidence of common ancestry for the maple syrup urine disease (MSUD) Y438N allele in non-Mennonite MSUD patients.
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| Love-Gregory LD, Grasela J, Hillman RE, Phillips CL.
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| Mol Genet Metab 75(1):79-90. 2002
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| 9 | BCKDHA, MSUD1A
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| Molecular and biochemical basis of intermediate maple syrup urine disease. Occurence of homozygous G245R and F364C mutations at the E1alpha locus.
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| Chuang JL, et al.
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| J Clin Invest 95 : 954-963. 1995
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| 10 | BCKDHA, MSUD1A
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| Molecular basis of maple syrup urine disease : novel mutations at the EI alpha locus that impair EI (alpha2beta2) assembly or decrease steady-state EIalpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.
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| Chuang JL, et al.
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| Am J Hum Genet 55 : 297-304. 1994
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| 11 | BCKDHA, BCKDHB, MSUD1A, MSUD1B
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| Heterogeneity of mutations in maple syrup urine disease (MSUD) : screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.
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| Nobukuni Y, et al.
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| Biochim Biophys Acta 1225 : 64-70. 1993
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| 12 | BCKDHA, MSUD1A
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| Gene analysis of Mennonite maple syrup urine disease kindred using primer-specific restriction map modification.
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| Mitsubichi H, et al.
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| J Inherit Metab Dis 15 : 181-187. 1992
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| 13 | BCKDHA
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| Structure of the gene encoding the entire mature E1-alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex.
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| Dariush N, et al.
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| FEBS Lett 284 : 34-38. 1991
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| 14 | BCKDHA, MSUD1A
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| Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1-alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.
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| Fisher CR, et al.
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| J Clin Invest 88 : 1034-1037. 1991
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| 15 | BCKDHA, MSUD1A
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| Occurrence of a Tyr393-Asn (Y393N) mutation in the EIalpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.
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| Fisher CR, et al.
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| Am J Hum Genet 49 : 429-434. 1991
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| 16 | BCKDHA, MSUD1A
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| Molecular defects in the E1alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease.
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| Zhang B, et al.
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| Mol Biol Med 8 : 39-47. 1991
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| 17 | BCKDHA, MSUD1A
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| Sequence of the EIalpha subunit of branched-chain alpha-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease.
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| Zhang B, et al.
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| Am J Hum Genet 46 : 843-846. 1990
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| 18 | BCKDHA, MSUD1A
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| A T-to-A substitution in the E1-alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from menonite maple syrup urine disease patients.
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| Matsuda I, et al.
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| Biochem Biophys Res Commun 172 : 646-651. 1990
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| 19 | BCKDHA
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| Assignment of the gene for the E1alpha subunit of branched chain alpha-ketoacid dehydrogenase to chromosome 19.
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| Crabb DW, Deaven LL, Luedemann M, Zhang B, Harris RA.
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| Cytogenet Cell Genet 50 : 40-41. 1989
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| 20 | BCKDHA
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| Localization of the human gene for the El-alpha subunit of branched chain keto acid dehydrogenase (BCKDHA) to chromosome 19q13.1-q13.2.
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| Fekete G, et al.
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| Cytogenet Cell Genet 50 : 236-237. 1989
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| 21 | BCKDHA
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| Cloning and chromosome mapping of a cDNA encoding the E1î subunit of branched chain ketoacid dehydrogenase (BCKAD).
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| Tiu AB, et al.
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| Am J Hum Genet 43 : A17. 1988
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| 22 | BCKDHA
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| Branched-chain aminotransferase deficiency in chinese hamster cells complemented by two independent genes on human chromosomes 12 and 19.
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| Naylor SL, et al.
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| Somatic Cell Genet 6 : 641-652. 1980
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