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Results: 1-13 |
Results: 13
SPECTRUM OF MUTATIONS IN THE FUMARYLACETOACETATE HYDROLASE GENE OF TYROSINEMIA TYPE-1 PATIENTS IN NORTHWESTERN EUROPE AND MEDITERRANEAN COUNTRIES
Authors: BERGMAN AJIW VANDENBERG IET BRINK W POLLTHE BT PLOOSVANAMSTEL JK BERGER R
Citation: Ajiw. Bergman et al., SPECTRUM OF MUTATIONS IN THE FUMARYLACETOACETATE HYDROLASE GENE OF TYROSINEMIA TYPE-1 PATIENTS IN NORTHWESTERN EUROPE AND MEDITERRANEAN COUNTRIES, Human mutation, 12(1), 1998, pp. 19-26
STRUCTURAL ORGANIZATION OF THE HUMAN SHORT-CHAIN L-3-HYDROXYACYL-COA DEHYDROGENASE GENE
Authors: VREDENDAAL PJCM VANDENBERG IET STROOBANTS AK VANDERA DL MALINGRE HEM BERGER R
Citation: Pjcm. Vredendaal et al., STRUCTURAL ORGANIZATION OF THE HUMAN SHORT-CHAIN L-3-HYDROXYACYL-COA DEHYDROGENASE GENE, Mammalian genome, 9(9), 1998, pp. 763-768
RECURRENT NONIMMUNE HYDROPS-FETALIS ASSOCIATED WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
Authors: DEKONING TJ TOET M DORLAND L DEVRIES LS VANDENBERG IET DURAN M POLLTHE BT
Citation: Tj. Dekoning et al., RECURRENT NONIMMUNE HYDROPS-FETALIS ASSOCIATED WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, Journal of inherited metabolic disease, 21(6), 1998, pp. 681-682
A NOVEL DISORDER OF N-GLYCOSYLATION DUE TO PHOSPHOMANNOSE ISOMERASE DEFICIENCY
Authors: DEKONING TJ DORLAND L VANDIGGELEN OP BOONMAN AMC DEJONG GJ VANNOORT WL DESCHRYVER J DURAN M VANDENBERG IET GERWIG GJ BERGER R POLLTHE BT
Citation: Tj. Dekoning et al., A NOVEL DISORDER OF N-GLYCOSYLATION DUE TO PHOSPHOMANNOSE ISOMERASE DEFICIENCY, Biochemical and biophysical research communications, 245(1), 1998, pp. 38-42
AUTOSOMAL RECESSIVE LIVER PHOSPHORYLASE-KINASE DEFICIENCY CAUSED BY ANOVEL SPLICE-SITE MUTATION IN GENE ENCODING THE LIVER GAMMA-SUBUNIT (PHKG2)
Authors: VANBEURDEN EACM DEGRAAF M WENDEL U GITZELMANN R BERGER R VANDENBERG IET
Citation: Eacm. Vanbeurden et al., AUTOSOMAL RECESSIVE LIVER PHOSPHORYLASE-KINASE DEFICIENCY CAUSED BY ANOVEL SPLICE-SITE MUTATION IN GENE ENCODING THE LIVER GAMMA-SUBUNIT (PHKG2), Biochemical and biophysical research communications, 236(3), 1997, pp. 544-548
MOLECULAR BIOLOGICAL CHARACTERIZATION OF HUMAN SHORT-CHAIN HYDROXYACYL-COA DEHYDROGENASE - APPLICATION OF A P-32 BASED SEQUENCING PROTOCOL
Authors: VREDENDAAL PJCM VANDENBERG IET VANDERA DL DEYOUNG J VANEIJK MJT BERGER R
Citation: Pjcm. Vredendaal et al., MOLECULAR BIOLOGICAL CHARACTERIZATION OF HUMAN SHORT-CHAIN HYDROXYACYL-COA DEHYDROGENASE - APPLICATION OF A P-32 BASED SEQUENCING PROTOCOL, American journal of human genetics, 61(4), 1997, pp. 1064-1064
AUTOSOMAL RECESSIVE PHOSPHORYLASE-KINASE DEFICIENCY IN LIVER, CAUSED BY MUTATIONS IN THE GENE ENCODING THE BETA-SUBUNIT (PHKB)
Authors: VANDENBERG IET VANBEURDEN EACM DEKLERK JBC VANDIGGELEN OP MALINGRE HEM BOER MM BERGER R
Citation: Iet. Vandenberg et al., AUTOSOMAL RECESSIVE PHOSPHORYLASE-KINASE DEFICIENCY IN LIVER, CAUSED BY MUTATIONS IN THE GENE ENCODING THE BETA-SUBUNIT (PHKB), American journal of human genetics, 61(3), 1997, pp. 539-546
HEREDITARY TYROSINEMIA TYPE-1 - NOVEL MISSENSE, NONSENSE AND SPLICE CONSENSUS MUTATIONS IN THE HUMAN FUMARYLACETOACETATE HYDROLASE GENE - VARIABILITY OF THE GENOTYPE-PHENOTYPE RELATIONSHIP
Authors: VANAMSTEL JKP BERGMAN AJIW VANBEURDEN EACM ROIJERS JFM PEELEN T VANDENBERG IET POLLTHE BT KVITTINGEN EA BERGER R
Citation: Jkp. Vanamstel et al., HEREDITARY TYROSINEMIA TYPE-1 - NOVEL MISSENSE, NONSENSE AND SPLICE CONSENSUS MUTATIONS IN THE HUMAN FUMARYLACETOACETATE HYDROLASE GENE - VARIABILITY OF THE GENOTYPE-PHENOTYPE RELATIONSHIP, Human genetics, 97(1), 1996, pp. 51-59
HUMAN SHORT-CHAIN L-3-HYDROXYACYL-COA DEHYDROGENASE - CLONING AND CHARACTERIZATION OF THE CODING SEQUENCE
Authors: VREDENDAAL PJCM VANDENBERG IET MALINGRE HEM STROOBANTS AK WEGHUIS DEMO BERGER R
Citation: Pjcm. Vredendaal et al., HUMAN SHORT-CHAIN L-3-HYDROXYACYL-COA DEHYDROGENASE - CLONING AND CHARACTERIZATION OF THE CODING SEQUENCE, Biochemical and biophysical research communications, 223(3), 1996, pp. 718-723
DETERMINATION OF THE GENETIC-DEFECTS IN 2 FORMS OF PHOSPHORYLASE-KINASE DEFICIENCY
Authors: VANDENBERG IET VANBEURDEN EACM MALINGRE HEM SMEITINK J POLLTHE BT VANAMSTEL JKP BERGER R
Citation: Iet. Vandenberg et al., DETERMINATION OF THE GENETIC-DEFECTS IN 2 FORMS OF PHOSPHORYLASE-KINASE DEFICIENCY, American journal of human genetics, 57(4), 1995, pp. 1334-1334
HEREDITARY TYROSINEMIA TYPE-I (HT1) - IVS6-1(G-T) AND IVS12-A) ARE COMMON MUTATIONS IN THE FUMARYLACETOACETASE (FAH) GENE OF PATIENTS OF EUROPEAN AND MEDITERRANEAN(5(G)
Authors: VANAMSTEL JKP BERGMAN AJIW VANDENBERG IET POLLTHE BT BERGER R
Citation: Jkp. Vanamstel et al., HEREDITARY TYROSINEMIA TYPE-I (HT1) - IVS6-1(G-T) AND IVS12-A) ARE COMMON MUTATIONS IN THE FUMARYLACETOACETASE (FAH) GENE OF PATIENTS OF EUROPEAN AND MEDITERRANEAN(5(G), American journal of human genetics, 57(4), 1995, pp. 1441-1441
X-LINKED LIVER PHOSPHORYLASE-KINASE DEFICIENCY IS ASSOCIATED WITH MUTATIONS IN THE HUMAN LIVER PHOSPHORYLASE-KINASE ALPHA-SUBUNIT
Authors: VANDENBERG IET VANBEURDEN EACM MALINGRE HEM VANAMSTEL HKP POLLTHE BT SMEITINK JAM LAMERS WH BERGER R
Citation: Iet. Vandenberg et al., X-LINKED LIVER PHOSPHORYLASE-KINASE DEFICIENCY IS ASSOCIATED WITH MUTATIONS IN THE HUMAN LIVER PHOSPHORYLASE-KINASE ALPHA-SUBUNIT, American journal of human genetics, 56(2), 1995, pp. 381-387
PRENATAL-DIAGNOSIS OF TYPE-I HEREDITARY TYROSINEMIA
Authors: VANAMSTEL JKP JANSEN RPM VERJAAL M VANDENBERG IET BERGER R
Citation: Jkp. Vanamstel et al., PRENATAL-DIAGNOSIS OF TYPE-I HEREDITARY TYROSINEMIA, Lancet, 344(8918), 1994, pp. 336-336
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