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Results: 26-32/32
Authors:
PONZONE A
GUARDAMAGNA O
SPADA M
FERRARIS S
PONZONE R
KIERAT L
BLAU N
Citation: A. Ponzone et al., DIFFERENTIAL-DIAGNOSIS OF HYPERPHENYLALANINEMIA BY A COMBINED PHENYLALANINE-TETRAHYDROBIOPTERIN LOADING TEST, European journal of pediatrics, 152(8), 1993, pp. 655-661
Authors:
FERRARIS S
REVERSO E
PARRAVICINI LP
PONZONE A
Citation: S. Ferraris et al., DIPYLIDIUM-CANINUM IN AN INFANT, European journal of pediatrics, 152(8), 1993, pp. 702-702
Authors:
DIANZANI I
CAMASCHELLA C
PONZONE A
COTTON RGH
Citation: I. Dianzani et al., DILEMMAS AND PROGRESS IN MUTATION DETECTION, Trends in genetics, 9(12), 1993, pp. 403-405
Authors:
DIANZANI I
HOWELLS DW
PONZONE A
SALEEBA JA
SMOOKER PM
COTTON RGH
Citation: I. Dianzani et al., 2 NEW MUTATIONS IN THE DIHYDROPTERIDINE REDUCTASE GENE IN PATIENTS WITH TETRAHYDROBIOPTERIN DEFICIENCY, Journal of Medical Genetics, 30(6), 1993, pp. 465-469
Authors:
PONZONE A
GUARDAMAGNA O
SPADA M
PONZONE R
SARTORE M
KIERAT L
HEIZMANN CW
BLAU N
Citation: A. Ponzone et al., HYPERPHENYLALANINEMIA AND PTERIN METABOLISM IN SERUM AND ERYTHROCYTES, Clinica chimica acta, 216(1-2), 1993, pp. 63-71
Authors:
INCERTI B
ANDRIA G
PARENTI G
SEBASTIO G
GHEZZI M
STRISCIUGLIO P
SPERLI D
DIROCCO M
BORRONE C
PARINI R
DIANZANI I
PONZONE A
Citation: B. Incerti et al., LYSINURIC PROTEIN INTOLERANCE - STUDIES ON 17 ITALIAN PATIENTS, American journal of human genetics, 53(3), 1993, pp. 908-908
Authors:
GREGERSEN N
WINTER V
CURTIS D
DEUFEL T
MACK M
HENDRICKX J
WILLEMS PJ
PONZONE A
PARELLA T
PONZONE R
DING JH
ZHANG W
CHEN YT
KAHLER S
ROE CR
KOLVRAA S
SCHNEIDERMAN K
ANDRESEN BS
BROSS P
BOLUND L
Citation: N. Gregersen et al., MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY - THE PREVALENTMUTATION G985 (K304E) IS SUBJECT TO A STRONG FOUNDER EFFECT FROM NORTHWESTERN EUROPE, Human heredity, 43(6), 1993, pp. 342-350