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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
Citation: P. Guldberg et al., ABERRANT PHENYLALANINE METABOLISM IN PHENYLKETONURIA HETEROZYGOTES, Journal of inherited metabolic disease, 21(4), 1998, pp. 365-372
Authors:
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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
Authors:
KOCH R
FISHLER K
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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
Authors:
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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
Authors:
GULDBERG P
HENRIKSEN KF
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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
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Citation: J. Weglage et al., INTELLECTUAL, NEUROLOGIC, AND NEUROPSYCHOLOGIC OUTCOME IN UNTREATED SUBJECTS WITH NONPHENYLKETONURIA HYPERPHENYLALANINEMIA, Pediatric research, 42(3), 1997, pp. 378-384
Authors:
GULDBERG P
MALLMANN R
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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
Authors:
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Citation: T. Gjetting et al., EXPRESSION ANALYSIS OF HUMAN PHENYLALANINE-HYDROXYLASE MUTANTS FOUND IN PHENYLKETONURIA, The FASEB journal, 10(6), 1996, pp. 40-40
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Citation: T. Gjetting et al., EXPRESSION ANALYSIS OF HUMAN PHENYLALANINE-HYDROXYLASE MUTANTS FOUND IN PHENYLKETONURIA, The FASEB journal, 10(6), 1996, pp. 2141-2141
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
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
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
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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
Authors:
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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
Authors:
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HANLEY WB
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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
Authors:
GULDBERG P
MIKKELSEN I
HENRIKSEN KF
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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
Authors:
GULDBERG P
HENRIKSEN KF
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GUTTLER F
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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
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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
Authors:
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HENRIKSEN KF
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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
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
Citation: P. Guldberg et F. Guttler, MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE - METHODS FOR THEIR CHARACTERIZATION, Acta paediatrica, 83, 1994, pp. 27-33
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