| 1 | ACADM
|
| A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD.
|
| Purevsuren J, Kobayashi H, Hasegawa Y, Mushimoto Y, Li H, Fukuda S, Shigematsu Y, Fukao T, Yamaguchi S.
|
| Mol Genet Metab 96(2):77-9. Epub 2008 Dec 6.
2009
|
| 2 | ACADM
|
| Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population.
|
| Nichols MJ, Saavedra-Matiz CA, Pass KA, Caggana M.
|
| Am J Med Genet A 146A(5):610-9.
2008
|
| 3 | ACADM
|
| Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer.
|
| Nielsen KB, Sorensen S, Cartegni L, Corydon TJ, Doktor TK, Schroeder LD, Reinert LS, Elpeleg O, Krainer AR, Gregersen N, Kjems J, Andresen BS.
|
| Am J Hum Genet 80(3):416-32. Epub 2007 Jan 18. 2007
|
| 4 | ACAD8D, ACADM, ACADSB, ACADSBD, ACAT1, HSD17B10, MCCC1, MCCC2, MHBD
|
| Biochemical findings in common inborn errors of metabolism.
|
| Pasquali M, Monsen G, Richardson L, Alston M, Longo N.
|
| Am J Med Genet C Semin Med Genet 142(2):64-76. Review. 2006
|
| 5 | ACADM
|
| The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.
|
| Grosse SD, Khoury MJ, Greene CL, Crider KS, Pollitt RJ.
|
| Genet Med 8(4):205-12. Review.
2006
|
| 6 | ACADM
|
| Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD). K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein.
|
| O'Reilly LP, Andresen BS, Engel PC.
|
| FEBS J 272(17):4549-57. 2005
|
| 7 | ACADM
|
| Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.
|
| Maier EM, Liebl B, Roschinger W, Nennstiel-Ratzel U, Fingerhut R, Olgemoller B, Busch U, Krone N, v Kries R, Roscher AA.
|
| Hum Mutat 25(5):443-52. 2005
|
| 8 | ACADM
|
| The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study.
|
| Derks TG, Duran M, Waterham HR, Reijngoud DJ, Ten Kate LP, Smit GP.
|
| Eur J Hum Genet 13(8):947-52. 2005
|
| 9 | ACADM
|
| Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status.
|
| Korman SH, Gutman A, Brooks R, Sinnathamby T, Gregersen N, Andresen BS.
|
| Mol Genet Metab 82(2):121-9. 2004
|
| 10 | ACADM
|
| Molecular and functional characterisation of mild MCAD deficiency.
|
| Zschocke J, Schulze A, Lindner M, Fiesel S, Olgemoller K, Hoffmann GF, Penzien J, Ruiter JPN, Wanders RJA, Mayatepek E.
|
| Hum Genet 108 : 404-408. 2001
|
| 11 | ACADM
|
| Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
| Yang BZ, Ding JH, Zhou C, Dimachkie MM, Sweetman L, Dasouki MJ, Wilkinson J, Roe CR.
|
| Mol Genet Metab 69(3):259-62. 2000
|
| 12 | ACADM
|
| Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.
|
| Kuchler B, et al.
|
| Biochem J 337 ( Pt 2):225-30. 1999
|
| 13 | ACADM
|
| The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
|
| Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kolvraa S, Gregersen N.
|
| Hum Mol Genet 6(5):695-707. 1997
|
| 14 | ACADM
|
| Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in the Netherlands.
|
| de Vries HG, et al.
|
| Hum Genet 98 : 1-2. 1996
|
| 15 | ACADM
|
| The A985G mutation in the medium-chain acyl-CoA dehydrogenase gene : high prevalence in the Swiss population resident in Geneva.
|
| Conne B, et al.
|
| J Inherit Metab Dis 18 : 557-583. 1995
|
| 16 | ACADM
|
| Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12.
|
| Morris AAM, et al.
|
| Hum Mol Genet 4 : 747-749. 1995
|
| 17 | ACADM
|
| Effects of two mutations detected in medium chain Acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme.
|
| Bross P, et al.
|
| J Biol Chem 270 : 10284-10290. 1995
|
| 18 | ACADM
|
| Disease-causing mutations in exon II of the medium-chain acyl-CoA dehydrogenase gene.
|
| Andresen BS, et al.
|
| Am J Hum Genet 54 : 975-988. 1994
|
| 19 | ACADM
|
| A novel mutation in medium chain Acyl-CoA dehydrogenase causes Sudden neonatal death.
|
| Brackett JC, et al.
|
| J Clin Invest 94 : 1477-1483. 1994
|
| 20 | ACADM
|
| Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.
|
| Gregersen N, et al.
|
| J Inherit Metab Dis 17 : 169-184. 1994
|
| 21 | ACADM
|
| A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene.
|
| Andresen BS, et al.
|
| Hum Mol Genet 2 : 488. 1993
|
| 22 | ACADM
|
| Three RFLPs defining a haplotyte associated with the common mutation in human medium-chain acyl-coA dehydrogenase (MCAD) deficiency occur in Alu repeats.
|
| Zhang Z, et al.
|
| Am J Hum Genet 52 : 1111-1121. 1993
|
| 23 | ACADM
|
| A rare disease-associated mutation in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain Acyl-CoA dehydrogenase (SCAD).
|
| Storstein Andresen B, et al.
|
| Am J Hum Genet 53 : 730-739. 1993
|
| 24 | ACADM
|
| Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
|
| Ding JH, et al.
|
| Am J Hum Genet 50 : 229-233. 1992
|
| 25 | ACADM
|
| Structural organization and regulatory regions of the human medium-chain acyl-CoA dehydrogenase gene.
|
| Zhang Z, et al.
|
| Biochemistry 31 : 81-89. 1992
|
| 26 | ACADM
|
| Prevalence of K329E mutation in the medium chain acyl-Coa dehydrogenase gene determined from Guthrie cards.
|
| Matsubara Y, et al.
|
| Prog Clin Biol Res 375 : 453-462. 1992
|
| 27 | ACADM
|
| Impaired tetramer assembly of variant medium-chain acyl-coenzyme A dehydrogenase with a glutamate or aspartate substitution for lysine 304 causing instability of the protein.
|
| Yokota I, et al.
|
| J Biol Chem 267 : 26004-26010. 1992
|
| 28 | ACADM
|
| Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency : identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E.coli.
|
| Gregersen N, et al.
|
| Hum Genet 86 : 545-551. 1991
|
| 29 | ACADM
|
| The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene.
|
| Kšlvraa S, et al.
|
| Hum Genet 87 : 425-428. 1991
|
| 30 | ACADM
|
| Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.
|
| Yokota I, et al.
|
| Am J Hum Genet 49 : 1280-1291. 1991
|
| 31 | ACADM
|
| Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards.
|
| Matsubara Y, et al.
|
| Lancet 338 : 552-553. 1991
|
| 32 | ACADM
|
| Specific diagnosis of medium-chain acyl-COA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.
|
| Gregersen N, et al.
|
| Clin Chim Acta 203 : 23-34. 1991
|
| 33 | ACADM
|
| Localization of RFLPs of the medium chain acyl-CoA dehydrogenase gene.
|
| Blakemore AIF, et al.
|
| Hum Genet 86 : 537-538. 1991
|
| 34 | ACADM
|
| PstI RFLP at the medium chain acyl-Coenzyme A dehydrogenase locus (ACADM chromosome 1).
|
| Blakemore AIF, et al.
|
| Nucleic Acids Res 18 : 2838. 1990
|
| 35 | ACADM
|
| The locus for the medium-chain acyl-Coa dehydrogenase gene on chromosome 1 is highly polymorphic.
|
| Kidd JR, et al.
|
| Genomics 6 : 89-93. 1990
|
| 36 | ACADM
|
| Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
| Matsubara Y, et al.
|
| Lancet 335 : 1589. 1990
|
| 37 | ACADM
|
| Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
| Matsubara Y, et al.
|
| Biochem Biophys Res Commun 171 : 498-505. 1990
|
| 38 | ACADM
|
| Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.
|
| Yokota I, et al.
|
| J Clin Invest 86 : 1000-1003. 1990
|
| 39 | ACADM
|
| Molecular characterization of inherited medium-chain Acyl-CoA dehydrogenase deficiency.
|
| Kelly DP, et al.
|
| Proc Natl Acad Sci U S A 87 : 9236-9240. 1990
|
| 40 | ACADM, PGM1
|
| The mapping of ACADM and D1S2 proximal to PGM1 revises the regional assignment of PGM1 on 1p.
|
| Pakstis AJ, et al.
|
| (HGM10) Cytogenet Cell Genet 51 : 1056-1057. 1989
|
| 41 | ACADM
|
| Recognition of medium-chain acyl-CoA-dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death of Reye-like syndromes.
|
| Roe CR, et al.
|
| J Pediatr 108 : 13-18. 1986
|
| 42 | ACADM
|
| Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1.
|
| Matsubara Y, et al.
|
| Proc Natl Acad Sci U S A 83 : 6543-6547. 1986
|
| 43 | ACADM
|
| Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defect : a cause of hypoglycemia in childhood.
|
| Divry P, et al.
|
| Acta Paediatr Scand 72 : 943-949. 1983
|
| 44 | ACADM
|
| Intermittent dicarboxylic aciduria and hypoglycemia in two siblings : an apparent defect in beta-oxidation of fatty acids.
|
| Naylor EW, et al.
|
| Am J Hum Genet 30 : 35A. 1978
|