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Results: 1-14 |
Results: 14
MUTATIONAL SPECTRUM OF PHENYLKETONURIA IN THE POPULATION RESIDENT IN CATALONIA
Authors: MALLOLAS J CAMPISTOL J LAMBRUSCHINI N VILASECA MA CAMBRA FJ BADENAS C ESTIVILL X MILA M
Citation: J. Mallolas et al., MUTATIONAL SPECTRUM OF PHENYLKETONURIA IN THE POPULATION RESIDENT IN CATALONIA, European journal of human genetics, 6, 1998, pp. 4164-4164
FEASIBILITY OF MOLECULAR PRENATAL-DIAGNOSIS OF GLUTARIC ACIDURIA TYPE-I IN CHORIONIC VILLI
Authors: BUSQUETS C COLL MJ CHRISTENSEN E CAMPISTOL J CLUSELLAS N VILASECA MA RIBES A
Citation: C. Busquets et al., FEASIBILITY OF MOLECULAR PRENATAL-DIAGNOSIS OF GLUTARIC ACIDURIA TYPE-I IN CHORIONIC VILLI, Journal of inherited metabolic disease, 21(3), 1998, pp. 243-246
SELECTIVE SCREENING FOR HYPERHOMOCYSTEINEMIA IN PEDIATRIC-PATIENTS
Authors: VILASECA MA MOYANO D ARTUCH R FERRER I PINEDA M CARDO E CAMPISTOL J PAVIA C CAMACHO JA
Citation: Ma. Vilaseca et al., SELECTIVE SCREENING FOR HYPERHOMOCYSTEINEMIA IN PEDIATRIC-PATIENTS, Clinical chemistry, 44(3), 1998, pp. 662-664
ANTIOXIDANT STATUS IN HYPERPHENYLALANINEMIA
Authors: SIERRA C VILASECA MA MOYANO D BRANDI N CAMPISTOL J LAMBRUSCHINI N CAMBRA J DEULOFEU R MIRA A
Citation: C. Sierra et al., ANTIOXIDANT STATUS IN HYPERPHENYLALANINEMIA, Clinica chimica acta, 276(1), 1998, pp. 1-9
RELATIONSHIP BETWEEN MUTATION GENOTYPE AND BIOCHEMICAL PHENOTYPE IN AHETEROGENEOUS SPANISH PHENYLKETONURIA POPULATION
Authors: DESVIAT LR PEREZ B GARCIA MJ MARTINEZPARDO M BALDELLOU A ARENA J SANJURJO P CAMPISTOL J COUCE ML FERNANDEZ A CARDESA J UGARTE M
Citation: Lr. Desviat et al., RELATIONSHIP BETWEEN MUTATION GENOTYPE AND BIOCHEMICAL PHENOTYPE IN AHETEROGENEOUS SPANISH PHENYLKETONURIA POPULATION, European journal of human genetics, 5(4), 1997, pp. 196-202
TOCOPHEROL IN INBORN-ERRORS OF INTERMEDIARY METABOLISM
Authors: MOYANO D VILASECA MA PINEDA M CAMPISTOL J VERNET A POO P ARTUCH R SIERRA C
Citation: D. Moyano et al., TOCOPHEROL IN INBORN-ERRORS OF INTERMEDIARY METABOLISM, Clinica chimica acta, 263(2), 1997, pp. 147-155
VIGABATRIN AS INITIAL THERAPY FOR INFANTILE SPASMS - A EUROPEAN RETROSPECTIVE SURVEY
Authors: AICARDI J HAUSER E STEINBOCK H SZYPER M HOLSTEEN V OSTERGAARD J PEDERSEN SA TAUDORF K BARTHEZCARPENTIER MA BADINANDHUBERT N BERQUIN P BOULLOCHE J BOURGEOIS M CARRIERE JP CHABROL B CHIRON C CLARIS O ECHENNE B GAUTHIERMOREL D LIVET MO LOPEZ N MANCINI J NETTER JC QUILLEROU D RICHELME CH ROUSSELLE C DESTMARTIN A DESWARTE M AUERSWALD G BRANDL U KURLEMANN G SIEMES H SPOHR HL AARTS WFM BEGEER JH HEERSMA DJ LAAN LAEM PETERS ACB CAVAZZUTTI GB CURATOLO P FOIS A FRANZONI E GOBBI G INCORPORA G VIGEVANO F CAMPISTOL J CAMPOS J CASAS C HERRANZ JL NIETO M PRATS JM AMARK P BLENNOW G THEORELL K TONNBY B HAENGGELI CA WEISSERT M APPLETON UKR ROBINSON R DESOUSA C THOMAS N ANDERMANN F APPLETON R",ARZIMANOGLOU,"BOYD S BRANDT W BUTI D DULAC O FARRELL K MOSHE S MOTTE J PLOUIN P SHIELDS WD MUMFORD JP DUMAS C WOOD S
Citation: J. Aicardi et al., VIGABATRIN AS INITIAL THERAPY FOR INFANTILE SPASMS - A EUROPEAN RETROSPECTIVE SURVEY, Epilepsia, 37(7), 1996, pp. 638-642
HIGH PHOSPHORUS DIRECTLY STIMULATES PTH SECRETION BY HUMAN PARATHYROID TISSUE
Authors: ALMADEN Y HERNANDEZ A TORREGROSA V CAMPISTOL J TORRES A RODRIGUEZ MS NEFROLOGIA H
Citation: Y. Almaden et al., HIGH PHOSPHORUS DIRECTLY STIMULATES PTH SECRETION BY HUMAN PARATHYROID TISSUE, Journal of the American Society of Nephrology, 6(3), 1995, pp. 957-957
AN ATYPICAL FRENCH FORM OF PYRUVATE-CARBOXYLASE DEFICIENCY
Authors: PINEDA M CAMPISTOL J VILASECA MA BRIONES P RIBES A TEMUDO T PONS M CUSI V ROLLAND MO
Citation: M. Pineda et al., AN ATYPICAL FRENCH FORM OF PYRUVATE-CARBOXYLASE DEFICIENCY, Brain & development, 17(4), 1995, pp. 276-279
LAMOTRIGINE IN 68 CHILDREN WITH REFRACTORY EPILEPSY
Authors: SANMARTI F PIRES M PINEDA M CONILL J VERNET A CAMPISTOL J FERNANDEZALVAREZ E
Citation: F. Sanmarti et al., LAMOTRIGINE IN 68 CHILDREN WITH REFRACTORY EPILEPSY, Epilepsia, 36, 1995, pp. 111-111
NEONATAL SEIZURES - A 10-YEAR REVIEW
Authors: CAMPISTOL J DEHARO P POO P KRAUEL X FERNANDEZALVAREZ E
Citation: J. Campistol et al., NEONATAL SEIZURES - A 10-YEAR REVIEW, Epilepsia, 36, 1995, pp. 192-192
POLYUNSATURATED FATTY-ACID STATUS IN PATIENTS WITH PHENYLKETONURIA
Authors: SANJURJO P PERTEAGUDO L SORIANO JR VILASECA A CAMPISTOL J
Citation: P. Sanjurjo et al., POLYUNSATURATED FATTY-ACID STATUS IN PATIENTS WITH PHENYLKETONURIA, Journal of inherited metabolic disease, 17(6), 1994, pp. 704-709
THE ALLOPURINOL TEST IN PATIENTS WITH RETT-SYNDROME
Authors: PINEDA M VILASECA MA VERNET A CAMPISTOL J MAS A FABREGA C
Citation: M. Pineda et al., THE ALLOPURINOL TEST IN PATIENTS WITH RETT-SYNDROME, Journal of inherited metabolic disease, 16(3), 1993, pp. 577-580
BENIGN PAROXYSMAL TONIC UPGAZE OF CHILDHOOD WITH ATAXIA - A NEUROOPHTHALMOLOGICAL SYNDROME OF FAMILIAL ORIGIN
Authors: CAMPISTOL J PRATS JM GARAIZAR C
Citation: J. Campistol et al., BENIGN PAROXYSMAL TONIC UPGAZE OF CHILDHOOD WITH ATAXIA - A NEUROOPHTHALMOLOGICAL SYNDROME OF FAMILIAL ORIGIN, Developmental Medicine and Child Neurology, 35(5), 1993, pp. 436-439
Risultati: 1-14 |