Authors:
POGE AP
AUTSCHBACH F
KORALL H
TREFZ FK
MAYATEPEK E
Citation: Ap. Poge et al., EARLY CLINICAL MANIFESTATION OF GLUTARIC ACIDURIA TYPE-I AND NEPHROTIC SYNDROME DURING THE FIRST MONTHS OF LIFE, Acta paediatrica, 86(10), 1997, pp. 1144-1147
Authors:
TREFZ FK
SCHNEIDER HC
FRAUENDIENSTEGGER G
WERMUTH B
KORALL H
Citation: Fk. Trefz et al., MINOR NEUROLOGICAL FINDINGS AS PRIMARY SY MPTOMS IN A CASE OF ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY, Monatsschrift fur Kinderheilkunde, 145(3), 1997, pp. 238-241
Authors:
MAYATEPEK E
HOFFMANN GF
BAUMGARTNER R
SCHULZE A
JAKOBS C
TREFZ FK
BREMER HJ
Citation: E. Mayatepek et al., ATYPICAL VITAMIN-B-12-UNRESPONSIVE METHYLMALONIC ACIDURIA IN A SIBSHIP WITH SEVERE PROGRESSIVE ENCEPHALOMYELOPATHY - A NEW GENETIC-DISEASE, European journal of pediatrics, 155(5), 1996, pp. 398-403
Authors:
BURGARD P
RUPP A
KONECKI DS
TREFZ FK
SCHMIDT H
LICHTERKONECKI U
Citation: P. Burgard et al., PHENYLALANINE-HYDROXYLASE GENOTYPES, PREDICTED RESIDUAL ENZYME-ACTIVITY AND PHENOTYPIC PARAMETERS OF DIAGNOSIS AND TREATMENT OF PHENYLKETONURIA, European journal of pediatrics, 155, 1996, pp. 11-15
Authors:
HOFFMANN GF
BOHLES HJ
BURLINA A
DURAN M
HERWIG J
LEHNERT W
LEONARD JV
MUNTAU A
PLECKOSTARTING FK
SUPERTIFURGA A
TREFZ FK
CHRISTENSEN E
Citation: Gf. Hoffmann et al., EARLY SIGNS AND COURSE OF DISEASE OF GLUTARYL-COA DEHYDROGENASE-DEFICIENCY, Journal of inherited metabolic disease, 18(2), 1995, pp. 173-176
Authors:
MISCHKE U
FRAUDENDIENSTEGGER G
MATTHIS P
GAO P
TREFZ FK
Citation: U. Mischke et al., KBS-DIAMET - DATABASE AND EXPERT-SYSTEM FOR DIAGNOSIS AND TREATMENT OF PATIENTS WITH INBORN-ERRORS OF METABOLISM, Journal of inherited metabolic disease, 18(2), 1995, pp. 224-226
Authors:
PIETZ J
LANDWEHR R
KUTSCHA A
SCHMIDT H
DESONNEVILLE L
TREFZ FK
Citation: J. Pietz et al., EFFECT OF HIGH-DOSE TYROSINE SUPPLEMENTATION ON BRAIN-FUNCTION IN ADULTS WITH PHENYLKETONURIA, The Journal of pediatrics, 127(6), 1995, pp. 936-943
Authors:
HOFFMANN GF
GIBSON KM
TREFZ FK
NYHAN WL
BREMER HJ
RATING D
Citation: Gf. Hoffmann et al., NEUROLOGICAL MANIFESTATIONS OF ORGANIC-ACID DISORDERS, European journal of pediatrics, 153(7), 1994, pp. 190000094-190000100
Authors:
BENDER C
BUCHLER A
BAUMGARTNER R
KONECKI DS
TREFZ FK
Citation: C. Bender et al., METHYLMALONIC ACIDEMIA - HAPLOTYPE ANALYSIS OF THE METHYLMALONYL-COA-MUTASE GENE IN EUROPE, European journal of pediatrics, 153(6), 1994, pp. 468-468
Authors:
BENDER C
BUCHLER A
SCHMIDTMADER B
SCHLOTTER M
TEEBI AS
KONECKI DS
TREFZ FK
Citation: C. Bender et al., HAPLOTYPE ANALYSIS AND A NEW MSPI-POLYMORPHISM AT THE PHENYLALANINE-HYDROXYLASE GENE IN THE ARABIAN POPULATION, European journal of pediatrics, 153(5), 1994, pp. 392-392
Authors:
LICHTERKONECKI U
RUPP A
KONECKI DS
TREFZ FK
SCHMIDT H
BURGARD P
Citation: U. Lichterkonecki et al., RELATION BETWEEN PHENYLALANINE-HYDROXYLASE GENOTYPES AND PHENOTYPIC PARAMETERS OF DIAGNOSIS AND TREATMENT OF HYPERPHENYLALANINAEMIC DISORDERS, Journal of inherited metabolic disease, 17(3), 1994, pp. 362-365
Authors:
BARIC I
MARDESIC D
SARNAVOKA V
LICHTERKONECKI U
KONECKI DS
TREFZ FK
Citation: I. Baric et al., GEOGRAPHICAL-DISTRIBUTION OF THE P281L MUTATION AT THE PHENYLALANINE-HYDROXYLASE LOCUS - POSSIBLE ORIGIN IN SOUTHEASTERN EUROPE, Journal of inherited metabolic disease, 17(3), 1994, pp. 376-377
Authors:
KONECKI DS
SCHWEITZERKRANTZ S
BYRD D
TREFZ FK
LICHTERKONECKI U
Citation: Ds. Konecki et al., FACILITATION OF HYPERPHENYLALANINEMIA PHENOTYPE ASSESSMENT BY GENOTYPE ANALYSIS, European journal of pediatrics, 152(12), 1993, pp. 1048-1049
Authors:
DESONNEVILLE LMJ
LANZENGLERT B
TREFZ FK
BENNINGER C
MATTHIS P
BICKEL H
Citation: Lmj. Desonneville et al., ASPARTAME (APM) HAS NO EFFECT ON COGNITIVE FUNCTION IN PHENYLKETONURIC HETEROZYGOTES (PKUH), Journal of clinical and experimental neuropsychology, 15(3), 1993, pp. 406-407
Authors:
BENNINGER C
MATTHIS P
DESONNEVILLE LMJ
LANZENGLERT B
TREFZ FK
BICKEL H
Citation: C. Benninger et al., CHRONIC HIGH-DOSE ASPARTAME INGESTION DOES NOT AFFECT ELECTROENCEPHALOGRAM (EEG) SPECTRAL PARAMETERS IN PHENYLKETONURIC HETEROZYGOTES, Journal of clinical and experimental neuropsychology, 15(3), 1993, pp. 407-407
Authors:
BARTH PG
HOFFMANN GF
JAEKEN J
WANDERS RJA
DURAN M
JANSEN GA
JAKOBS C
LEHNERT W
HANEFELD F
VALK J
SCHUTGENS RBH
TREFZ FK
HARTUNG HP
CHAMOLES NA
SFAELLO Z
CARUSO U
Citation: Pg. Barth et al., L-2-HYDROXYGLUTARIC ACIDEMIA - CLINICAL AND BIOCHEMICAL FINDINGS IN 12 PATIENTS AND PRELIMINARY-REPORT ON L-2-HYDROXYACID DEHYDROGENASE, Journal of inherited metabolic disease, 16(4), 1993, pp. 753-761
Authors:
HOFFMANN GF
CHARPENTIER C
MAYATEPEK E
MANCINI J
LEICHSENRING M
GIBSON KM
DIVRY P
HREBICEK M
LEHNERT W
SARTOR K
TREFZ FK
RATING D
BREMER HJ
NYHAN WL
Citation: Gf. Hoffmann et al., CLINICAL AND BIOCHEMICAL PHENOTYPE IN 11 PATIENTS WITH MEVALONIC ACIDURIA, Pediatrics, 91(5), 1993, pp. 915-921