ACNP - Italian Periodicals Catalogue

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Results: 1-25 | 26-26

Results: 1-25/26

A GENE ENCODING A P-TYPE ATPASE MUTATED IN 2 FORMS OF HEREDITARY CHOLESTASIS

Authors: BULL LN VANEIJK MJT PAWLIKOWSKA L DEYOUNG JA JUIJN JA LIAO M KLOMP LWJ LOMRI N BERGER R SCHARSCHMIDT BF KNISELY AS HOUWEN RHJ FREIMER NB

Citation: Ln. Bull et al., A GENE ENCODING A P-TYPE ATPASE MUTATED IN 2 FORMS OF HEREDITARY CHOLESTASIS, Nature genetics, 18(3), 1998, pp. 219-224

RECURRENT FAMILIAL INTRAHEPATIC CHOLESTASIS IN THE FAROE-ISLANDS - PHENOTYPIC HETEROGENEITY BUT GENETIC HOMOGENEITY

Authors: TYGSTRUP N STEIG BA BULL LN JUJN JA HOUWEN RHJ

Citation: N. Tygstrup et al., RECURRENT FAMILIAL INTRAHEPATIC CHOLESTASIS IN THE FAROE-ISLANDS - PHENOTYPIC HETEROGENEITY BUT GENETIC HOMOGENEITY, Hepatology, 28(4), 1998, pp. 1461-1461

BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS (BRIC) - EVIDENCE OF GENETIC-HETEROGENEITY AND DELIMITATION OF THE BRIC LOCUS TO A 7-CM INTERVAL BETWEEN D18S69 AND D18S64

Authors: SINKE RJ CARLTON VEH JUIJN JA DELHAAS T BULL L HENEGOUWEN GPV VANHATTUM J KELLER KM SINAASAPPEL M BIJLEVELD CMA KNOL IE VANAMSTEL HKP PEARSON PL BERGER R FREIMER NB HOUWEN RHJ

Citation: Rj. Sinke et al., BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS (BRIC) - EVIDENCE OF GENETIC-HETEROGENEITY AND DELIMITATION OF THE BRIC LOCUS TO A 7-CM INTERVAL BETWEEN D18S69 AND D18S64, Human genetics, 100(3-4), 1997, pp. 382-387

TOTAL-ENERGY EXPENDITURE IN INFANTS WITH BRONCHOPULMONARY DYSPLASIA IS ASSOCIATED WITH RESPIRATORY STATUS

Authors: DEMEER K WESTERTERP KR HOUWEN RHJ BROUWERS HAA BERGER R OKKEN A

Citation: K. Demeer et al., TOTAL-ENERGY EXPENDITURE IN INFANTS WITH BRONCHOPULMONARY DYSPLASIA IS ASSOCIATED WITH RESPIRATORY STATUS, European journal of pediatrics, 156(4), 1997, pp. 299-304

VERY HIGH-FREQUENCY OF THE HIS1069GLN MUTATION IN POLISH WILSON-DISEASE PATIENTS

Authors: CZLONKOWSKA A RODO M GAJDA J VANAMSTEL HKP JUYN J HOUWEN RHJ

Citation: A. Czlonkowska et al., VERY HIGH-FREQUENCY OF THE HIS1069GLN MUTATION IN POLISH WILSON-DISEASE PATIENTS, Journal of neurology, 244(9), 1997, pp. 591-592

GENETICS OF PFIC-1 (BYLER-DISEASE), A FORM OF PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS

Authors: BULL LN VANEIJK MJT LIAO M PAWLIKOWSKA L DEYOUNG J STRICKER N JUIJN JA CARLTON V WHITINGTON P PAWLOWSKA J JANKOWSKA I LOMRI N SCHARSCHMIDT B KNISELY AS HOUWEN RHJ FREIMER NB

Citation: Ln. Bull et al., GENETICS OF PFIC-1 (BYLER-DISEASE), A FORM OF PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS, Hepatology, 26(4), 1997, pp. 961-961

GENETICS OF BRIC (BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS)

Authors: HOUWEN RHJ BULL LN LIAO M JUYN JA TYGSTRUP N CARLTON V KNISELY A SINKE R BERGER R VANEIJK MJT FREIMER N

Citation: Rhj. Houwen et al., GENETICS OF BRIC (BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS), Hepatology, 26(4), 1997, pp. 962-962

BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS AND PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS LINKED TO PFIC1 - POINTS ON A CONTINUUM

Authors: BERMAN L MARKOWITZ J KAHN E KOCOSHIS SA AGOSTINI RM HOUWEN RHJ VANNIEUWKERK CMJ OCONNELL NC SETCHELL KDR BULL LN FREIMER NB KNISELY AS

Citation: L. Berman et al., BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS AND PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS LINKED TO PFIC1 - POINTS ON A CONTINUUM, Hepatology, 26(4), 1997, pp. 1023-1023

THE ENDEMIC TYROLEAN INFANTILE CIRRHOSIS LOCUS IS NOT ON 13Q14.3, THEWILSON DISEASE LOCUS

Authors: HOUWEN RHJ MULLER T BRUNT T FEICHTINGER H MULLER W SANDKUIJL LA PEARSON PL WIJMENGA C

Citation: Rhj. Houwen et al., THE ENDEMIC TYROLEAN INFANTILE CIRRHOSIS LOCUS IS NOT ON 13Q14.3, THEWILSON DISEASE LOCUS, Hepatology, 26(4), 1997, pp. 1591-1591

LOW-DOSE VERSUS HIGH-DOSE URSODEOXYCHOLIC ACID IN CYSTIC FIBROSIS-RELATED CHOLESTATIC LIVER-DISEASE - RESULTS OF A RANDOMIZED STUDY WITH 1-YEAR FOLLOW-UP

Authors: VANDEMEEBERG PC HOUWEN RHJ SINAASAPPEL M HEIJERMAN HGM BIJLEVELD CMA VANBERGEHENEGOUWEN GP

Citation: Pc. Vandemeeberg et al., LOW-DOSE VERSUS HIGH-DOSE URSODEOXYCHOLIC ACID IN CYSTIC FIBROSIS-RELATED CHOLESTATIC LIVER-DISEASE - RESULTS OF A RANDOMIZED STUDY WITH 1-YEAR FOLLOW-UP, Scandinavian journal of gastroenterology, 32(4), 1997, pp. 369-373

20 YEARS OF CHILDHOOD CELIAC-DISEASE IN THE NETHERLANDS - A RAPIDLY INCREASING INCIDENCE

Authors: GEORGE EK MEARIN ML FRANKEN HCM HOUWEN RHJ HIRASING RA VANDENBROUCKE JP

Citation: Ek. George et al., 20 YEARS OF CHILDHOOD CELIAC-DISEASE IN THE NETHERLANDS - A RAPIDLY INCREASING INCIDENCE, Gut, 40(1), 1997, pp. 61-66

LOCALIZATION OF THE BRIC PFIC1 GENE TO A 250 KB INTERVAL THROUGH HAPLOTYPE ANALYSIS/

Authors: BULL LN VANEIJK MJT LIAO M PAWLIKOWSKA L DEYOUNG J STRICKER N JUIJN JA CARLTON V TYGSTRUP N WHITINGTON P BARTON DE BOURKE B PAWLOWSKA J JANKOWSKA I LOMRI N SCHARSCHMIDT B BERGER R KNISELY AS HOUWEN RHJ FREIMER NB

Citation: Ln. Bull et al., LOCALIZATION OF THE BRIC PFIC1 GENE TO A 250 KB INTERVAL THROUGH HAPLOTYPE ANALYSIS/, American journal of human genetics, 61(4), 1997, pp. 1569-1569

RESPIRATORY STATUS, TOTAL-ENERGY EXPENDITURE, AND GROWTH IN INFANTS WITH BRONCHOPULMONARY DYSPLASIA

Authors: DEMEER L WESTERTERP KR HOUWEN RHJ BROUWERS HAA BERGER R OKKEN A

Citation: L. Demeer et al., RESPIRATORY STATUS, TOTAL-ENERGY EXPENDITURE, AND GROWTH IN INFANTS WITH BRONCHOPULMONARY DYSPLASIA, Pediatric research, 39(4), 1996, pp. 1967-1967

EFFECTS OF EXERCISE TRAINING ON PROTEIN KINETICS IN CHILDREN WITH CYSTIC-FIBROSIS (CF)

Authors: DEMEER K GULMANS VAM BRACKEL HJL VANDENBERG JWO HOUWEN RHJ BERGER R

Citation: K. Demeer et al., EFFECTS OF EXERCISE TRAINING ON PROTEIN KINETICS IN CHILDREN WITH CYSTIC-FIBROSIS (CF), Pediatric research, 39(4), 1996, pp. 2293-2293

FINE MAPPING OF THE GENE FOR BRIC AND BYLER DISEASE

Authors: SINKE R JUYN J FREIMER N BERGER R HOUWEN RHJ

Citation: R. Sinke et al., FINE MAPPING OF THE GENE FOR BRIC AND BYLER DISEASE, Gastroenterology, 110(4), 1996, pp. 1329-1329

CASE-REPORT - URINARY-TRACT INFECTIONS AND CHOLELITHIASIS IN EARLY-CHILDHOOD

Authors: HES FJ DEJONG TPVM BAX NMA HOUWEN RHJ

Citation: Fj. Hes et al., CASE-REPORT - URINARY-TRACT INFECTIONS AND CHOLELITHIASIS IN EARLY-CHILDHOOD, Journal of pediatric gastroenterology and nutrition, 21(3), 1995, pp. 319-321

AUTOSOMAL-RECESSIVE INHERITANCE OF BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS

Authors: DEKONING TJ SANDKUIJL LA DESCHRYVER JEAR HENNEKAM EAM BEEMER FA HOUWEN RHJ

Citation: Tj. Dekoning et al., AUTOSOMAL-RECESSIVE INHERITANCE OF BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS, American journal of medical genetics, 57(3), 1995, pp. 479-482

LOW INCIDENCE OF CHILDHOOD CELIAC-DISEASE IN THE NETHERLANDS

Authors: GEORGE EK MEARIN ML VANDERVELDE EA HOUWEN RHJ BOUQUET J GIJSBERS CFM VANDENBROUCKE JP

Citation: Ek. George et al., LOW INCIDENCE OF CHILDHOOD CELIAC-DISEASE IN THE NETHERLANDS, Pediatric research, 37(2), 1995, pp. 213-218

UNEXPECTED LETHAL PULMONARY-HYPERTENSION IN A 5-YEAR-OLD GIRL SUCCESSFULLY TREATED FOR BILIARY ATRESIA

Authors: SCHUIJTVLOT ET BAX NMA HOUWEN RHJ HRUDA J

Citation: Et. Schuijtvlot et al., UNEXPECTED LETHAL PULMONARY-HYPERTENSION IN A 5-YEAR-OLD GIRL SUCCESSFULLY TREATED FOR BILIARY ATRESIA, Journal of pediatric surgery, 30(4), 1995, pp. 589-590

H714Q MUTATION IN WILSON DISEASE IS ASSOCIATED WITH LATE, NEUROLOGICAL PRESENTATION

Authors: HOUWEN RHJ JUYN J HOOGENRAAD TU VANAMSTEL JKP BERGER R

Citation: Rhj. Houwen et al., H714Q MUTATION IN WILSON DISEASE IS ASSOCIATED WITH LATE, NEUROLOGICAL PRESENTATION, Journal of Medical Genetics, 32(6), 1995, pp. 480-482

USING 2 DISEASE IN CONCERT TO FURTHER NARROW DOWN THE BRIC PFIC REGION/

Authors: BAHARLOO S CARLTON VEH HUYNH N KNISELY AS HOUWEN RHJ FREIMER NB

Citation: S. Baharloo et al., USING 2 DISEASE IN CONCERT TO FURTHER NARROW DOWN THE BRIC PFIC REGION/, American journal of human genetics, 57(4), 1995, pp. 1066-1066

GENOME SCREENING BY SEARCHING FOR SHARED SEGMENTS - MAPPING A GENE FOR BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS

Authors: HOUWEN RHJ BAHARLOO S BLANKENSHIP K RAEYMAEKERS P JUYN J SANDKUIJL LA FREIMER NB

Citation: Rhj. Houwen et al., GENOME SCREENING BY SEARCHING FOR SHARED SEGMENTS - MAPPING A GENE FOR BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS, Nature genetics, 8(4), 1994, pp. 380-386

CHILDHOOD CELIAC-DISEASE IN THE NETHERLANDS

Authors: MEARIN ML GEORGE EK VANDERVELDE EA FRANKEN HCM HOUWEN RHJ BOUQUET J GIJSBERS CFM FLAPPER BCT VANDENBROUCKE JP

Citation: Ml. Mearin et al., CHILDHOOD CELIAC-DISEASE IN THE NETHERLANDS, Gastroenterology, 106(4), 1994, pp. 10000017-10000017

DOWN-SYNDROME AND CELIAC-DISEASE - 5 NEW CASES WITH A REVIEW OF THE LITERATURE

Authors: HILHORST MI BRINK M WAUTERS EAK HOUWEN RHJ

Citation: Mi. Hilhorst et al., DOWN-SYNDROME AND CELIAC-DISEASE - 5 NEW CASES WITH A REVIEW OF THE LITERATURE, European journal of pediatrics, 152(11), 1993, pp. 884-887

WILSON DISEASE

Authors: HOUWEN RHJ VANHATTUM J HOOGENRAAD TU

Citation: Rhj. Houwen et al., WILSON DISEASE, Netherlands journal of medicine, 43(1-2), 1993, pp. 26-37

Risultati: 1-25 | 26-26