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Results: 1-7 |
Results: 7
IDENTIFICATION OF 4 NEW MUTATIONS IN THE SHORT-CHAIN ACYL-COA DEHYDROGENASE (SCAD) GENE IN 2 PATIENTS - ONE OF THE VARIANT ALLELES, 511C-]T, IS PRESENT AT AN UNEXPECTEDLY HIGH-FREQUENCY IN THE GENERAL-POPULATION, AS WAS THE CASE FOR 625G-]A, TOGETHER CONFERRING SUSCEPTIBILITY TOETHYLMALONIC ACIDURIA
Authors: GREGERSEN N WINTER VS CORYDON MJ CORYDON TJ RINALDO P RIBES A MARTINEZ G BENNETT MJ VIANEYSABAN C BHALA A HALE DE LEHNERT W KMOCH S ROIG M RIUDOR E EIBERG H ANDRESEN BS BROSS P BOLUND LA KOLVRAA S
Citation: N. Gregersen et al., IDENTIFICATION OF 4 NEW MUTATIONS IN THE SHORT-CHAIN ACYL-COA DEHYDROGENASE (SCAD) GENE IN 2 PATIENTS - ONE OF THE VARIANT ALLELES, 511C-]T, IS PRESENT AT AN UNEXPECTEDLY HIGH-FREQUENCY IN THE GENERAL-POPULATION, AS WAS THE CASE FOR 625G-]A, TOGETHER CONFERRING SUSCEPTIBILITY TOETHYLMALONIC ACIDURIA, Human molecular genetics, 7(4), 1998, pp. 619-627
THE MOLECULAR-BASIS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY IN COMPOUND HETEROZYGOUS PATIENTS - IS THERE CORRELATION BETWEEN GENOTYPE AND PHENOTYPE
Authors: 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
Citation: Bs. Andresen et al., THE MOLECULAR-BASIS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY IN COMPOUND HETEROZYGOUS PATIENTS - IS THERE CORRELATION BETWEEN GENOTYPE AND PHENOTYPE, Human molecular genetics, 6(5), 1997, pp. 695-707
ADENYLOSUCCINASE DEFICIENCY - CLINICAL AND BIOCHEMICAL FINDINGS IN 5 CZECH PATIENTS
Authors: SEBESTA I KRIJT J KMOCH S HARTMANNOVA H WOJDA M ZEMAN J
Citation: I. Sebesta et al., ADENYLOSUCCINASE DEFICIENCY - CLINICAL AND BIOCHEMICAL FINDINGS IN 5 CZECH PATIENTS, Journal of inherited metabolic disease, 20(3), 1997, pp. 343-344
A SURVEY OF THE NEWBORN POPULATIONS IN BELGIUM, GERMANY, POLAND, CZECH-REPUBLIC, HUNGARY, BULGARIA, SPAIN, TURKEY, AND JAPAN FOR THE G985 VARIANT ALLELE WITH HAPLOTYPE ANALYSIS AT THE MEDIUM-CHAIN ACYL-COA DEHYDROGENASE GENE LOCUS - CLINICAL AND EVOLUTIONARY CONSIDERATION
Authors: TANAKA K GREGERSEN N RIBES A KIM J KOLVRAA S WINTER V EIBERG H MARTINEZ G DEUFEL T LEIFERT B SANTER R FRANCOIS B PRONICKA E LASZLO A KMOCH S KREMENSKY I KALAYDJICVA L OZALP I ITO M
Citation: K. Tanaka et al., A SURVEY OF THE NEWBORN POPULATIONS IN BELGIUM, GERMANY, POLAND, CZECH-REPUBLIC, HUNGARY, BULGARIA, SPAIN, TURKEY, AND JAPAN FOR THE G985 VARIANT ALLELE WITH HAPLOTYPE ANALYSIS AT THE MEDIUM-CHAIN ACYL-COA DEHYDROGENASE GENE LOCUS - CLINICAL AND EVOLUTIONARY CONSIDERATION, Pediatric research, 41(2), 1997, pp. 201-209
ETHYLMALONIC ACIDURIA IS ASSOCIATED WITH AN AMINO-ACID VARIANT OF SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE
Authors: CORYDON MJ GREGERSEN N LEHNERT W RIBES A RINALDO P KMOCH S CHRISTENSEN E KRISTENSEN TJ ANDRESEN BS BROSS P WINTER V MARTINEZ G NEVE S JENSEN TG BOLUND L KOLVRAA S
Citation: Mj. Corydon et al., ETHYLMALONIC ACIDURIA IS ASSOCIATED WITH AN AMINO-ACID VARIANT OF SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE, Pediatric research, 39(6), 1996, pp. 1059-1066
RIBOFLAVIN-RESPONSIVE EPILEPSY IN A PATIENT WITH SER209 VARIANT FORM OF SHORT-CHAIN ACYL-COA DEHYDROGENASE
Authors: KMOCH S ZEMAN J HREBICEK M RYBA L KRISTENSEN MJ GREGERSEN N
Citation: S. Kmoch et al., RIBOFLAVIN-RESPONSIVE EPILEPSY IN A PATIENT WITH SER209 VARIANT FORM OF SHORT-CHAIN ACYL-COA DEHYDROGENASE, Journal of inherited metabolic disease, 18(2), 1995, pp. 227-229
AMINO-ACID POLYMORPHISM (GLY209SER) IN THE ACADS GENE
Authors: KRISTENSEN MJ KMOCH S BROSS P ANDRESEN BS GREGERSEN N
Citation: Mj. Kristensen et al., AMINO-ACID POLYMORPHISM (GLY209SER) IN THE ACADS GENE, Human molecular genetics, 3(9), 1994, pp. 1711-1711
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