Citation: F. Guttler et P. Guldberg, MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE - GENETIC-DETERMINANTS FOR THE PHENOTYPIC VARIABILITY OF HYPERPHENYLALANINEMIA, Acta paediatrica, 83, 1994, pp. 49-56
Authors:
KOCH R
LEVY HL
MATALON R
ROUSE B
HANLEY WB
TREFZ F
AZEN C
FRIEDMAN EG
DELACRUZ F
GUTTLER F
ACOSTA PB
Citation: R. Koch et al., THE INTERNATIONAL COLLABORATIVE STUDY OF MATERNAL PHENYLKETONURIA - STATUS-REPORT 1994, Acta paediatrica, 83, 1994, pp. 111-119
Authors:
LOU HC
TOFT PB
ANDRESEN J
MIKKELSEN I
OLSEN B
GULDBERG P
GUTTLER F
Citation: Hc. Lou et al., UNCHANGED MRT OF MYELIN IN ADOLESCENTS WITH PKU SUPPLIED WITH NON-PHEESSENTIAL AMINO-ACIDS AFTER DIETARY RELAXATION, Acta paediatrica, 83(12), 1994, pp. 1312-1314
Citation: P. Guldberg et F. Guttler, BROAD-RANGE DGGE FOR SINGLE-STEP MUTATION SCANNING OF ENTIRE GENES - APPLICATION TO HUMAN PHENYLALANINE-HYDROXYLASE GENE, Nucleic acids research, 22(5), 1994, pp. 880-881
Authors:
GULDBERG P
LEVY HL
KOCH R
BERLIN CM
FRANCOIS B
HENRIKSEN KF
GUTTLER F
Citation: P. Guldberg et al., MUTATION ANALYSIS IN FAMILIES WITH DISCORDANT PHENOTYPES OF PHENYLALANINE-HYDROXYLASE DEFICIENCY - INHERITANCE AND EXPRESSION OF THE HYPERPHENYLALANINAEMIAS, Journal of inherited metabolic disease, 17(6), 1994, pp. 645-651
Authors:
TOFT PB
LOU HC
KRAGELOHMANN I
ANDRESEN J
GUTTLER F
GULDBERG P
HENRIKSEN O
Citation: Pb. Toft et al., BRAIN MAGNETIC-RESONANCE-IMAGING IN CHILDREN WITH OPTIMALLY CONTROLLED HYPERPHENYLALANINEMIA, Journal of inherited metabolic disease, 17(5), 1994, pp. 575-583
Citation: P. Guldberg et F. Guttler, MUTATION SCREENING VERSUS GENE SCANNING FOR GENOTYPING PHENYLKETONURIA PATIENTS, Journal of inherited metabolic disease, 17(3), 1994, pp. 359-361
Citation: A. Popescu et al., GENOTYPE-PHENOTYPE CORRELATION IN 11 ROMANIAN PKU FAMILIES, Journal of inherited metabolic disease, 17(3), 1994, pp. 374-375
Authors:
LEVY HL
GOSS BS
SULLIVAN DK
MICHALSMATALON K
DOBBS JM
GULDBERG P
GUTTLER F
Citation: Hl. Levy et al., MATERNAL MILD HYPERPHENYLALANINEMIA - RESULTS OF TREATED AND UNTREATED PREGNANCIES IN 2 SISTERS, The Journal of pediatrics, 125(3), 1994, pp. 467-469
Authors:
GULDBERG P
LOU HC
HENRIKSEN KF
MIKKELSEN I
OLSEN B
HOLCK B
GUTTLER F
Citation: P. Guldberg et al., A NOVEL MISSENSE MUTATION IN THE PHENYLALANINE-HYDROXYLASE GENE OF A HOMOZYGOUS PAKISTANI PATIENT WITH NON-PKU HYPERPHENYLALANINEMIA, Human molecular genetics, 2(7), 1993, pp. 1061-1062
Authors:
GULDBERG P
ROMANO V
CERATTO N
BOSCO P
CIUNA M
INDELICATO A
MOLLICA F
MELI C
GIOVANNINI M
RIVA E
BIASUCCI G
HENRIKSEN KF
GUTTLER F
Citation: P. Guldberg et al., MUTATIONAL SPECTRUM OF PHENYLALANINE-HYDROXYLASE DEFICIENCY IN SICILY- IMPLICATIONS FOR DIAGNOSIS OF HYPERPHENYL-ALANINEMIA IN SOUTHERN EUROPE, Human molecular genetics, 2(10), 1993, pp. 1703-1707
Citation: P. Guldberg et al., MOLECULAR ANALYSIS OF PHENYLKETONURIA IN DENMARK - 99-PERCENT OF THE MUTATIONS DETECTED BY DENATURING GRADIENT GEL-ELECTROPHORESIS, Genomics, 17(1), 1993, pp. 141-146
Citation: P. Guldberg et F. Guttler, A SIMPLE METHOD FOR IDENTIFICATION OF POINT MUTATIONS USING DENATURING GRADIENT GEL-ELECTROPHORESIS, Nucleic acids research, 21(9), 1993, pp. 2261-2262
Authors:
GUTTLER F
GULDBERG P
HENRIKSEN KF
MIKKELSEN I
OLSEN B
LOU H
Citation: F. Guttler et al., MOLECULAR-BASIS FOR THE PHENOTYPICAL DIVERSITY OF PHENYLKETONURIA ANDRELATED HYPERPHENYLALANINAEMIAS, Journal of inherited metabolic disease, 16(3), 1993, pp. 602-604
Authors:
GUTTLER F
SEPIOL J
PLAKHOTNIK T
MITTERDORFER A
RENN A
WILD UP
Citation: F. Guttler et al., SINGLE-MOLECULE SPECTROSCOPY - FLUORESCENCE EXCITATION-SPECTRA WITH POLARIZED-LIGHT, Journal of luminescence, 56(1-6), 1993, pp. 29-38
Authors:
CROCI M
MUSCHENBORN HJ
GUTTLER F
RENN A
WILD UP
Citation: M. Croci et al., SINGLE-MOLECULE SPECTROSCOPY - PRESSURE EFFECT ON PENTACENE IN P-TERPHENYL, Chemical physics letters, 212(1-2), 1993, pp. 71-77
Authors:
PIROTTA M
GUTTLER F
GYGAX H
RENN A
SEPIOL J
WILD UP
Citation: M. Pirotta et al., SINGLE-MOLECULE SPECTROSCOPY - FLUORESCENCE-LIFETIME MEASUREMENTS OF PENTACENE IN P-TERPHENYL, Chemical physics letters, 208(5-6), 1993, pp. 379-384