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Results: 1-20 |
Results: 20
STRUCTURE AND MUTATION ANALYSIS OF THE GLYCOGEN-STORAGE-DISEASE TYPE IB GENE
Authors: MARCOLONGO P BARONE V PRIORI G PIROLA B GIGLIO S BIASUCCI G ZAMMARCHI E PARENTI G BURCHELL A BENEDETTI A SORRENTINO V
Citation: P. Marcolongo et al., STRUCTURE AND MUTATION ANALYSIS OF THE GLYCOGEN-STORAGE-DISEASE TYPE IB GENE, FEBS letters, 436(2), 1998, pp. 247-250
A PROTOCOL FOR RAPID AND INEXPENSIVE MUTATION DETECTION IN A LARGE-SCALE SCREENING
Authors: TURRI O BERNINI M BIASUCCI G BASILE F GUAGNELLINI N
Citation: O. Turri et al., A PROTOCOL FOR RAPID AND INEXPENSIVE MUTATION DETECTION IN A LARGE-SCALE SCREENING, Clinical chemistry, 44, 1998, pp. 130-130
DIAGNOSIS, CLASSIFICATION, BASIS OF TREAT MENT OF HYPERPHENYLALANINEMIAS
Authors: ROMANO C BURRONI M CACCIARI E CERONE R CORBETTA C LILLIU F BALSAMO A CARDILLO A CARNEVALE F CARUSO U CIATTI R CIONI M DOTTI L IMPELLIZZERI A LELLI A LEUZZI V PAGLIARDINI S PIAZZI S PRINCIPI R SALARDI S SCHIAFFINO MC ALOISI R ALTAMURA A BIASUCCI G BURLINA AB COTUGNO G FABIANO F GHIRRI P GIOVANNINI M MELI C MOSTARDINI R MUSARO MA PAOLILLO L PERUZZI L PIGNERO A PULITI MT RIVA E SORTINO C SPADA M TERRANOVA D ZAMMARCHI E
Citation: C. Romano et al., DIAGNOSIS, CLASSIFICATION, BASIS OF TREAT MENT OF HYPERPHENYLALANINEMIAS, Rivista italiana di pediatria, 23(6), 1997, pp. 1040-1044
2 NOVEL PAH GENE-MUTATIONS DETECTED IN ITALIAN PHENYLKETONURIC PATIENTS
Authors: ARGIOLAS A BOSCO P CALI F CERATTO N ANELLO G RIVA E BIASUCCI G CARDUCCI C ROMANO V
Citation: A. Argiolas et al., 2 NOVEL PAH GENE-MUTATIONS DETECTED IN ITALIAN PHENYLKETONURIC PATIENTS, Human genetics, 99(2), 1997, pp. 275-278
ANALYSIS OF OTC MESSENGER-RNA FROM LYMPHOCYTES LEADS TO THE IDENTIFICATION OF NEW MUTATIONS IN ITALIAN OTCD PATIENTS
Authors: GIORGI M MORRONE A DONATI MA BARDELLI T CIANI F BIASUCCI G GIOVANNINI M ZAMMARCHI E
Citation: M. Giorgi et al., ANALYSIS OF OTC MESSENGER-RNA FROM LYMPHOCYTES LEADS TO THE IDENTIFICATION OF NEW MUTATIONS IN ITALIAN OTCD PATIENTS, American journal of human genetics, 61(4), 1997, pp. 1460-1460
EARLY BREAST-FEEDING IS LINKED TO HIGHER INTELLIGENCE QUOTIENT SCORESIN DIETARY TREATED PHENYLKETONURIC CHILDREN
Authors: RIVA E AGOSTONI C BIASUCCI G TROJAN S LUOTTI D FIORI L GIOVANNINI M
Citation: E. Riva et al., EARLY BREAST-FEEDING IS LINKED TO HIGHER INTELLIGENCE QUOTIENT SCORESIN DIETARY TREATED PHENYLKETONURIC CHILDREN, Acta paediatrica, 85(1), 1996, pp. 56-58
FATTY-ACID METABOLISM IN PHENYLKETONURIA
Authors: GIOVANNINI M AGOSTONI C BIASUCCI G ROTTOLI A LUOTTI D TROJAN S RIVA E
Citation: M. Giovannini et al., FATTY-ACID METABOLISM IN PHENYLKETONURIA, European journal of pediatrics, 155, 1996, pp. 132-135
GRANULOCYTE-COLONY-STIMULATING FACTOR AND ERYTHROPOIETIN THERAPY IN CHILDREN WITH HUMAN-IMMUNODEFICIENCY-VIRUS INFECTION
Authors: ZUCCOTTI GV PLEBANI A BIASUCCI G CLERICISCHOELLER M BANDERALI G DECARLIS S STARTARI R RIVA E
Citation: Gv. Zuccotti et al., GRANULOCYTE-COLONY-STIMULATING FACTOR AND ERYTHROPOIETIN THERAPY IN CHILDREN WITH HUMAN-IMMUNODEFICIENCY-VIRUS INFECTION, Journal of international medical research, 24(1), 1996, pp. 115-121
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
THE EFFECTS OF N-3 AND N-6 POLYUNSATURATED FATTY-ACIDS ON PLASMA-LIPIDS AND FATTY-ACIDS OF TREATED PHENYLKETONURIC CHILDREN
Authors: AGOSTONI C RIVA E BIASUCCI G LUOTTI D BRUZZESE MG MARANGONI F GIOVANNINI M
Citation: C. Agostoni et al., THE EFFECTS OF N-3 AND N-6 POLYUNSATURATED FATTY-ACIDS ON PLASMA-LIPIDS AND FATTY-ACIDS OF TREATED PHENYLKETONURIC CHILDREN, Prostaglandins, leukotrienes and essential fatty acids, 53(6), 1995, pp. 401-404
MEAT ALLERGY .2. EFFECTS OF FOOD-PROCESSING AND ENZYMATIC DIGESTION ON THE ALLERGENICITY OF BOVINE AND OVINE MEATS
Authors: FIOCCHI A RESTANI P RIVA E RESTELLI AR BIASUCCI G GALLI CL GIOVANNINI M
Citation: A. Fiocchi et al., MEAT ALLERGY .2. EFFECTS OF FOOD-PROCESSING AND ENZYMATIC DIGESTION ON THE ALLERGENICITY OF BOVINE AND OVINE MEATS, Journal of the American College of Nutrition, 14(3), 1995, pp. 245-250
LIPID STATUS AND FATTY-ACID METABOLISM IN PHENYLKETONURIA
Authors: GIOVANNINI M BIASUCCI G AGOSTONI C LUOTTI D RIVA E
Citation: M. Giovannini et al., LIPID STATUS AND FATTY-ACID METABOLISM IN PHENYLKETONURIA, Journal of inherited metabolic disease, 18(3), 1995, pp. 265-272
DEFECTIVE NEUTROPHIL ACTIVITY IN FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY
Authors: BIASUCCI G GIGLIOTTI M LUOTTI D BERTAGNOLIO B RIVA E
Citation: G. Biasucci et al., DEFECTIVE NEUTROPHIL ACTIVITY IN FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY, Journal of inherited metabolic disease, 18(2), 1995, pp. 162-164
EFFECT OF HEPATITIS-C GENOTYPE ON MOTHER-TO-INFANT TRANSMISSION OF VIRUS
Authors: ZUCCOTTI GV RIBERO ML GIOVANNINI M FASOLA M RIVA E PORTERA G BIASUCCI G DECARLIS S PROFETA ML TAGGER A
Citation: Gv. Zuccotti et al., EFFECT OF HEPATITIS-C GENOTYPE ON MOTHER-TO-INFANT TRANSMISSION OF VIRUS, The Journal of pediatrics, 127(2), 1995, pp. 278-280
LIPIDIC AND FATTY-ACID STATUS IN TREATED HYPERPHENYLALANINEMIC CHILDREN
Authors: RIVA E AGOSTONI C BIASUCCI G GIOVANNINI M
Citation: E. Riva et al., LIPIDIC AND FATTY-ACID STATUS IN TREATED HYPERPHENYLALANINEMIC CHILDREN, Acta paediatrica, 83(2), 1994, pp. 132-132
PKU-RELATED DYSGAMMAGLOBULINEMIA - THE EFFECT OF DIET THERAPY ON IGE AND ALLERGIC SENSITIZATION
Authors: RIVA E FIOCCHI A AGOSTONI C BIASUCCI G SALA M BANDERALI G LUOTTI D GIOVANNINI M
Citation: E. Riva et al., PKU-RELATED DYSGAMMAGLOBULINEMIA - THE EFFECT OF DIET THERAPY ON IGE AND ALLERGIC SENSITIZATION, Journal of inherited metabolic disease, 17(6), 1994, pp. 710-717
FATTY-ACID SUPPLEMENTATION IN A CASE OF MATERNAL PHENYLKETONURIA
Authors: GIOVANNINI M BIASUCCI G AGOSTONI C BELLU R RIVA E
Citation: M. Giovannini et al., FATTY-ACID SUPPLEMENTATION IN A CASE OF MATERNAL PHENYLKETONURIA, Journal of inherited metabolic disease, 17(5), 1994, pp. 630-631
FATTY-ACID STATUS IN TREATED GALACTOSEMIA
Authors: AGOSTONI C RIVA E BIASUCCI G LUOTTI D ROTTOLI A GIOVANNINI M
Citation: C. Agostoni et al., FATTY-ACID STATUS IN TREATED GALACTOSEMIA, Journal of inherited metabolic disease, 17(2), 1994, pp. 247-248
MUTATIONAL SPECTRUM OF PHENYLALANINE-HYDROXYLASE DEFICIENCY IN SICILY- IMPLICATIONS FOR DIAGNOSIS OF HYPERPHENYL-ALANINEMIA IN SOUTHERN EUROPE
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
TYROSINEMIA TYPE IA WITHOUT EXCESS OF URINARY SUCCINYLACETONE
Authors: BIASUCCI G GIUFFRE B LAGRUTTA S RIVA E
Citation: G. Biasucci et al., TYROSINEMIA TYPE IA WITHOUT EXCESS OF URINARY SUCCINYLACETONE, Journal of inherited metabolic disease, 16(6), 1993, pp. 1056-1057
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