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Results: 1-25 | 26-47
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MILD HYPERPHENYLALANINEMIA AND HETEROZYGOSITY OF THE PHENYLALANINE-HYDROXYLASE GENE
Authors: KOCH R GUTTLER F GULDBERG P ROUSE B
Citation: R. Koch et al., MILD HYPERPHENYLALANINEMIA AND HETEROZYGOSITY OF THE PHENYLALANINE-HYDROXYLASE GENE, MOLECULAR GENETICS AND METABOLISM, 63(2), 1998, pp. 148-150
A POPULATION SURVEY OF PKU IN ICELAND AND A NOVEL MUTATION IN THE PHAGENE
Authors: DAGBJARTSSON A GULDBERG P GUDMUNDSSON TV ARNGRIMSSON R GUTTLER F
Citation: A. Dagbjartsson et al., A POPULATION SURVEY OF PKU IN ICELAND AND A NOVEL MUTATION IN THE PHAGENE, European journal of human genetics, 6, 1998, pp. 4210-4210
ABERRANT PHENYLALANINE METABOLISM IN PHENYLKETONURIA HETEROZYGOTES
Authors: GULDBERG P HENRIKSEN KF LOU HC GUTTLER F
Citation: P. Guldberg et al., ABERRANT PHENYLALANINE METABOLISM IN PHENYLKETONURIA HETEROZYGOTES, Journal of inherited metabolic disease, 21(4), 1998, pp. 365-372
A EUROPEAN MULTICENTER STUDY OF PHENYLALANINE-HYDROXYLASE DEFICIENCY - CLASSIFICATION OF 105 MUTATIONS AND A GENERAL SYSTEM FOR GENOTYPE-BASED PREDICTION OF METABOLIC PHENOTYPE
Authors: GULDBERG P REY F ZSCHOCKE J ROMANO V FRANCOIS B MICHIELS L ULLRICH K HOFFMANN GF BURGARD P SCHMIDT H MELI C RIVA E DIANZANI I PONZONE A REY J GUTTLER F
Citation: P. Guldberg et al., A EUROPEAN MULTICENTER STUDY OF PHENYLALANINE-HYDROXYLASE DEFICIENCY - CLASSIFICATION OF 105 MUTATIONS AND A GENERAL SYSTEM FOR GENOTYPE-BASED PREDICTION OF METABOLIC PHENOTYPE, American journal of human genetics, 63(1), 1998, pp. 71-79
THE RELATIONSHIP OF GENOTYPE TO PHENOTYPE IN PHENYLALANINE-HYDROXYLASE DEFICIENCY
Authors: KOCH R FISHLER K AZEN C GULDBERG P GUTTLER F
Citation: R. Koch et al., THE RELATIONSHIP OF GENOTYPE TO PHENOTYPE IN PHENYLALANINE-HYDROXYLASE DEFICIENCY, Biochemical and molecular medicine, 60(2), 1997, pp. 92-101
A MOLECULAR SURVEY OF PHENYLKETONURIA IN ICELAND - IDENTIFICATION OF A FOUNDING MUTATION AND EVIDENCE OF PREDOMINANT NORSE SETTLEMENT
Authors: GULDBERG P ZSCHOCKE J DAGBJARTSSON A HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., A MOLECULAR SURVEY OF PHENYLKETONURIA IN ICELAND - IDENTIFICATION OF A FOUNDING MUTATION AND EVIDENCE OF PREDOMINANT NORSE SETTLEMENT, European journal of human genetics, 5(6), 1997, pp. 376-381
LARGE DELETIONS IN THE PHENYLALANINE-HYDROXYLASE GENE AS A CAUSE OF PHENYLKETONURIA IN INDIA
Authors: GULDBERG P HENRIKSEN KF MAMMEN KC LEVY HL GUTTLER F
Citation: P. Guldberg et al., LARGE DELETIONS IN THE PHENYLALANINE-HYDROXYLASE GENE AS A CAUSE OF PHENYLKETONURIA IN INDIA, Journal of inherited metabolic disease, 20(6), 1997, pp. 845-846
INTELLECTUAL, NEUROLOGIC, AND NEUROPSYCHOLOGIC OUTCOME IN UNTREATED SUBJECTS WITH NONPHENYLKETONURIA HYPERPHENYLALANINEMIA
Authors: WEGLAGE J ULLRICH K PIETSCH M FUNDERS B GUTTLER F HARMS E
Citation: J. Weglage et al., INTELLECTUAL, NEUROLOGIC, AND NEUROPSYCHOLOGIC OUTCOME IN UNTREATED SUBJECTS WITH NONPHENYLKETONURIA HYPERPHENYLALANINEMIA, Pediatric research, 42(3), 1997, pp. 378-384
PHENYLALANINE-HYDROXYLASE DEFICIENCY IN A POPULATION IN GERMANY - MUTATIONAL PROFILE AND 9 NOVEL MUTATIONS
Authors: GULDBERG P MALLMANN R HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., PHENYLALANINE-HYDROXYLASE DEFICIENCY IN A POPULATION IN GERMANY - MUTATIONAL PROFILE AND 9 NOVEL MUTATIONS, Human mutation, 8(3), 1996, pp. 276-279
EXPRESSION ANALYSIS OF HUMAN PHENYLALANINE-HYDROXYLASE MUTANTS FOUND IN PHENYLKETONURIA
Authors: GJETTING T HENRIKSON KF GULDBERG P GUTTLER F
Citation: T. Gjetting et al., EXPRESSION ANALYSIS OF HUMAN PHENYLALANINE-HYDROXYLASE MUTANTS FOUND IN PHENYLKETONURIA, The FASEB journal, 10(6), 1996, pp. 40-40
EXPRESSION ANALYSIS OF HUMAN PHENYLALANINE-HYDROXYLASE MUTANTS FOUND IN PHENYLKETONURIA
Authors: GJETTING T HENRIKSEN KF GULDBERG P GUTTLER F
Citation: T. Gjetting et al., EXPRESSION ANALYSIS OF HUMAN PHENYLALANINE-HYDROXYLASE MUTANTS FOUND IN PHENYLKETONURIA, The FASEB journal, 10(6), 1996, pp. 2141-2141
PHENOTYPING OF PHENYLKETONURIC PATIENTS BY ORAL PHENYLALANINE LOADING- REPLY
Authors: GULDBERG P GUTTLER F
Citation: P. Guldberg et F. Guttler, PHENOTYPING OF PHENYLKETONURIC PATIENTS BY ORAL PHENYLALANINE LOADING- REPLY, European journal of pediatrics, 155(6), 1996, pp. 524-525
THE INFLUENCE OF MUTATIONS ON ENZYME-ACTIVITY AND PHENYLALANINE TOLERANCE IN PHENYLALANINE-HYDROXYLASE DEFICIENCY
Authors: GUTTLER F GULDBERG P
Citation: F. Guttler et P. Guldberg, THE INFLUENCE OF MUTATIONS ON ENZYME-ACTIVITY AND PHENYLALANINE TOLERANCE IN PHENYLALANINE-HYDROXYLASE DEFICIENCY, European journal of pediatrics, 155, 1996, pp. 6-10
SINGLE-MOLECULE POLARIZATION SPECTROSCOPY - PENTACENE IN P-TERPHENYL
Authors: GUTTLER F CROCI M RENN A WILD UP
Citation: F. Guttler et al., SINGLE-MOLECULE POLARIZATION SPECTROSCOPY - PENTACENE IN P-TERPHENYL, Chemical physics, 211(1-3), 1996, pp. 421-430
PAH DEFICIENCY IN ITALY - CORRELATION OF GENOTYPE WITH PHENOTYPE IN THE SICILIAN POPULATION
Authors: ROMANO V GULDBERG P GUTTLER F MELI C MOLLICA F PAVONE L GIOVANNINI M RIVA E BIASUCCI G LUOTTI D PALILLO L CALI F CERATTO N ANELLO G BOSCO P
Citation: V. Romano et al., PAH DEFICIENCY IN ITALY - CORRELATION OF GENOTYPE WITH PHENOTYPE IN THE SICILIAN POPULATION, Journal of inherited metabolic disease, 19(1), 1996, pp. 15-24
3 PREVALENT MUTATIONS IN A PATIENT WITH PHENYLALANINE-HYDROXYLASE DEFICIENCY - IMPLICATIONS FOR DIAGNOSIS AND GENETIC-COUNSELING
Authors: GULDBERG P LEVY HL HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., 3 PREVALENT MUTATIONS IN A PATIENT WITH PHENYLALANINE-HYDROXYLASE DEFICIENCY - IMPLICATIONS FOR DIAGNOSIS AND GENETIC-COUNSELING, Journal of Medical Genetics, 33(2), 1996, pp. 161-164
PHENYLALANINE-HYDROXYLASE GENE-MUTATIONS IN THE UNITED-STATES - REPORT FROM THE MATERNAL PKU COLLABORATIVE STUDY
Authors: GULDBERG P LEVY HL HANLEY WB KOCH R MATALON R ROUSE BM TREFZ F DELACRUZ F HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., PHENYLALANINE-HYDROXYLASE GENE-MUTATIONS IN THE UNITED-STATES - REPORT FROM THE MATERNAL PKU COLLABORATIVE STUDY, American journal of human genetics, 59(1), 1996, pp. 84-94
IN-VIVO ASSESSMENT OF MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENEBY PHENYLALANINE LOADING - CHARACTERIZATION OF 7 COMMON MUTATIONS
Authors: GULDBERG P MIKKELSEN I HENRIKSEN KF LOU HC GUTTLER F
Citation: P. Guldberg et al., IN-VIVO ASSESSMENT OF MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENEBY PHENYLALANINE LOADING - CHARACTERIZATION OF 7 COMMON MUTATIONS, European journal of pediatrics, 154(7), 1995, pp. 551-556
PHENYLKETONURIC PATIENTS DECADES AFTER DIET
Authors: FISCH RO CHANG PN WEISBERG S GULDBERG P GUTTLER F TSAI MY
Citation: Ro. Fisch et al., PHENYLKETONURIC PATIENTS DECADES AFTER DIET, Journal of inherited metabolic disease, 18(3), 1995, pp. 347-353
PHENYLKETONURIA IN A LOW INCIDENCE POPULATION - MOLECULAR CHARACTERIZATION OF MUTATIONS IN FINLAND
Authors: GULDBERG P HENRIKSEN KF SIPILA I GUTTLER F DELACHAPELLE A
Citation: P. Guldberg et al., PHENYLKETONURIA IN A LOW INCIDENCE POPULATION - MOLECULAR CHARACTERIZATION OF MUTATIONS IN FINLAND, Journal of Medical Genetics, 32(12), 1995, pp. 976-978
RECURRENCE OF THE R408W MUTATION IN THE PHENYLALANINE-HYDROXYLASE LOCUS IN EUROPEANS
Authors: EISENSMITH RC GOLTSOV AA ONEILL C TYFIELD LA SCHWARTZ EI KUZMIN AI BARANOVSKAYA SS TSUKERMAN GL TREACY E SCRIVER CR GUTTLER F GULDBERG P EIKEN HG APOLD J SVENSSON E NAUGHTEN E CAHALANE SF CROKE DT COCKBURN F WOO SLC
Citation: Rc. Eisensmith et al., RECURRENCE OF THE R408W MUTATION IN THE PHENYLALANINE-HYDROXYLASE LOCUS IN EUROPEANS, American journal of human genetics, 56(1), 1995, pp. 278-286
MOLECULAR HETEROGENEITY OF NONPHENYLKETONURIA HYPERPHENYLALANINEMIA IN 25 DANISH PATIENTS
Authors: GULDBERG P HENRIKSEN KF THONY B BLAU N GUTTLER F
Citation: P. Guldberg et al., MOLECULAR HETEROGENEITY OF NONPHENYLKETONURIA HYPERPHENYLALANINEMIA IN 25 DANISH PATIENTS, Genomics, 21(2), 1994, pp. 453-455
PHENYLKETONURIA - PAST, PRESENT, FUTURE - PROCEEDINGS OF A SYMPOSIUM HELD IN ELSINORE, DENMARK, MAY 23-25, 1994 - PREFACE
Authors: GUTTLER F
Citation: F. Guttler, PHENYLKETONURIA - PAST, PRESENT, FUTURE - PROCEEDINGS OF A SYMPOSIUM HELD IN ELSINORE, DENMARK, MAY 23-25, 1994 - PREFACE, Acta paediatrica, 83, 1994, pp. 1-3
MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE - METHODS FOR THEIR CHARACTERIZATION
Authors: GULDBERG P GUTTLER F
Citation: P. Guldberg et F. Guttler, MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE - METHODS FOR THEIR CHARACTERIZATION, Acta paediatrica, 83, 1994, pp. 27-33
ASSOCIATION BETWEEN HAPLOTYPES, HIND III-VNTR ALLELES AND MUTATIONS AT THE PAH LOCUS IN SICILY
Authors: ROMANO V CALI F GULDBERG P GUTTLER F INDELICATO A BOSCO P CERATTO N
Citation: V. Romano et al., ASSOCIATION BETWEEN HAPLOTYPES, HIND III-VNTR ALLELES AND MUTATIONS AT THE PAH LOCUS IN SICILY, Acta paediatrica, 83, 1994, pp. 39-40
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