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Results: 1-16 |
Results: 16
IDENTIFICATION OF 3 NOVEL OTC GENE-MUTATIONS IN POLISH PATIENTS
Authors: POPOWSKA E CIARA E ROKICKI D PRONICKA E KRAJEWSKAWALASEK M
Citation: E. Popowska et al., IDENTIFICATION OF 3 NOVEL OTC GENE-MUTATIONS IN POLISH PATIENTS, European journal of human genetics, 6, 1998, pp. 4099-4099
PARTIAL BIOTINIDASE DEFICIENCY IS USUALLY DUE TO THE D444H MUTATION IN THE BIOTINIDASE GENE (VOL 102, PG 571, 1998)
Authors: SWANGO KL DEMIRKOL M HUNER G PRONICKA E SYKUTCEGIELSKA J SCHULZE A MAYATEPEK E WOLF B
Citation: Kl. Swango et al., PARTIAL BIOTINIDASE DEFICIENCY IS USUALLY DUE TO THE D444H MUTATION IN THE BIOTINIDASE GENE (VOL 102, PG 571, 1998), Human genetics, 102(6), 1998, pp. 712-712
PARTIAL BIOTINIDASE DEFICIENCY IS USUALLY DUE TO THE D444H MUTATION IN THE BIOTINIDASE GENE
Authors: SWANGO KL DEMIRKOL M HUNER G PRONICKA E SYKUTCEGIELSKA J SCHULZE A WOLF B
Citation: Kl. Swango et al., PARTIAL BIOTINIDASE DEFICIENCY IS USUALLY DUE TO THE D444H MUTATION IN THE BIOTINIDASE GENE, Human genetics, 102(5), 1998, pp. 571-575
DISTRIBUTION OF MUTATIONS IN THE PEX GENE IN FAMILIES WITH X-LINKED HYPOPHOSPHATEMIC RICKETS (HYP)
Authors: ROWE PSN OUDET CL FRANCIS F SINDING C PANNETIER S ECONS MJ STROM TM MEITINGER T GARABEDIAN M DAVID A MACHER MA QUESTIAUX E POPOWSKA E PRONICKA E READ AP MOKRZYCKI A GLORIEUX FH DREZNER MK HANAUER A LEHRACH H GOULDING JN ORIORDAN JLH
Citation: Psn. Rowe et al., DISTRIBUTION OF MUTATIONS IN THE PEX GENE IN FAMILIES WITH X-LINKED HYPOPHOSPHATEMIC RICKETS (HYP), Human molecular genetics, 6(4), 1997, pp. 539-549
PERSISTENT HYPERCALCIURIA AND ELEVATED 25-HYDROXYVITAMIN D-3 IN CHILDREN WITH INFANTILE HYPERCALCEMIA
Authors: PRONICKA E ROWINSKA E KULCZYCKA H LUKASZKIEWICZ J LORENC R JANAS R
Citation: E. Pronicka et al., PERSISTENT HYPERCALCIURIA AND ELEVATED 25-HYDROXYVITAMIN D-3 IN CHILDREN WITH INFANTILE HYPERCALCEMIA, Pediatric nephrology, 11(1), 1997, pp. 2-6
A SURVEY OF THE NEWBORN POPULATIONS IN BELGIUM, GERMANY, POLAND, CZECH-REPUBLIC, HUNGARY, BULGARIA, SPAIN, TURKEY, AND JAPAN FOR THE G985 VARIANT ALLELE WITH HAPLOTYPE ANALYSIS AT THE MEDIUM-CHAIN ACYL-COA DEHYDROGENASE GENE LOCUS - CLINICAL AND EVOLUTIONARY CONSIDERATION
Authors: TANAKA K GREGERSEN N RIBES A KIM J KOLVRAA S WINTER V EIBERG H MARTINEZ G DEUFEL T LEIFERT B SANTER R FRANCOIS B PRONICKA E LASZLO A KMOCH S KREMENSKY I KALAYDJICVA L OZALP I ITO M
Citation: K. Tanaka et al., A SURVEY OF THE NEWBORN POPULATIONS IN BELGIUM, GERMANY, POLAND, CZECH-REPUBLIC, HUNGARY, BULGARIA, SPAIN, TURKEY, AND JAPAN FOR THE G985 VARIANT ALLELE WITH HAPLOTYPE ANALYSIS AT THE MEDIUM-CHAIN ACYL-COA DEHYDROGENASE GENE LOCUS - CLINICAL AND EVOLUTIONARY CONSIDERATION, Pediatric research, 41(2), 1997, pp. 201-209
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - LIKE TRANSFERRIN ISOELECTRIC-FOCUSING PATTERN IN UNTREATED FRUCTOSAEMIA
Authors: ADAMOWICZ M PRONICKA E
Citation: M. Adamowicz et E. Pronicka, CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - LIKE TRANSFERRIN ISOELECTRIC-FOCUSING PATTERN IN UNTREATED FRUCTOSAEMIA, European journal of pediatrics, 155(4), 1996, pp. 347-348
TREATMENT OF 2 CHILDREN WITH HEREDITARY TYROSINEMIA TYPE-I AND LONG-STANDING RENAL-DISEASE WITH A 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE INHIBITOR (NTBC)
Authors: PRONICKA E ROWINSKA E BENTKOWSKI Z ZAWADZKI J HOLME E LINDSTEDT S
Citation: E. Pronicka et al., TREATMENT OF 2 CHILDREN WITH HEREDITARY TYROSINEMIA TYPE-I AND LONG-STANDING RENAL-DISEASE WITH A 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE INHIBITOR (NTBC), Journal of inherited metabolic disease, 19(2), 1996, pp. 234-238
INHIBITION OF PHOSPHOMANNOSE ISOMERASE BY FRUCTOSE 1-PHOSPHATE - AN EXPLANATION FOR DEFECTIVE N-GLYCOSYLATION - IN HEREDITARY FRUCTOSE INTOLERANCE
Authors: JAEKEN J PIRARD M ADAMOWICZ M PRONICKA E VANSCHAFTINGEN E
Citation: J. Jaeken et al., INHIBITION OF PHOSPHOMANNOSE ISOMERASE BY FRUCTOSE 1-PHOSPHATE - AN EXPLANATION FOR DEFECTIVE N-GLYCOSYLATION - IN HEREDITARY FRUCTOSE INTOLERANCE, Pediatric research, 40(5), 1996, pp. 764-766
ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY IN MALES OF A 5-GENERATION FAMILY, CAUSED BY AN A208T MUTATION
Authors: VANDIGGELEN OP ZAREMBA J HE W KEULEMANS JLM BOER AM REUSER AJJ AUSEMS MGEM SMEITINK JAM KOWALCZYK J PRONICKA E ROKICKI D TARNOWSKADZIDUSZKO E KNEPPERS ALJ BAKKER E
Citation: Op. Vandiggelen et al., ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY IN MALES OF A 5-GENERATION FAMILY, CAUSED BY AN A208T MUTATION, Clinical genetics, 50(5), 1996, pp. 310-316
LINKAGE DISEQUILIBRIUM ANALYSIS IN YOUNG-POPULATIONS - PSEUDO VITAMIN-D DEFICIENCY RICKETS AND THE FOUNDER EFFECT IN FRENCH-CANADIANS
Authors: LABUDA M LABUDA D KORABLASKOWSKA M COLE DEC ZIETKIEWICZ E WEISSENBACH J POPOWSKA E PRONICKA E ROOT AW GLORIEUX FH
Citation: M. Labuda et al., LINKAGE DISEQUILIBRIUM ANALYSIS IN YOUNG-POPULATIONS - PSEUDO VITAMIN-D DEFICIENCY RICKETS AND THE FOUNDER EFFECT IN FRENCH-CANADIANS, American journal of human genetics, 59(3), 1996, pp. 633-643
A GENE (PEX) WITH HOMOLOGIES TO ENDOPEPTIDASES IS MUTATED IN PATIENTSWITH X-LINKED HYPOPHOSPHATEMIC RICKETS
Authors: FRANCIS F HENNIG S KORN B REINHARDT R DEJONG P POUSTKA A LEHRACH H ROWE PSN GOULDING JN SUMMERFIELD T MOUNTFORD R READ AP POPOWSKA E PRONICKA E DAVIES KE ORIORDAN JLH ECONS MJ NESBITT T DREZNER MK OUDET C PANNETIER S HANAUER A STROM TM MEINDL A LORENZ B CAGNOLI M MOHNIKE KL MURKEN J MEITINGER T
Citation: F. Francis et al., A GENE (PEX) WITH HOMOLOGIES TO ENDOPEPTIDASES IS MUTATED IN PATIENTSWITH X-LINKED HYPOPHOSPHATEMIC RICKETS, Nature genetics, 11(2), 1995, pp. 130-136
THE MOLECULAR-BASIS OF CANAVAN-DISEASE IN EUROPEAN NON-JEWISH PATIENTS
Authors: ANIKSTER Y SHAAG A CHRISTENSEN E GLUSTEIN JZ FOIS A MICHELAKAKIS H NIGRO F PRONICKA E RIBES A ZABOT MT
Citation: Y. Anikster et al., THE MOLECULAR-BASIS OF CANAVAN-DISEASE IN EUROPEAN NON-JEWISH PATIENTS, Pediatric research, 37(4), 1995, pp. 146-146
PANCREATIC GLUCAGON-LEVELS IN INFANTS AND CHILDREN WITH HYPERINSULINEMIA
Authors: PRONICKA E GRUSZCZYNSKA B WOZNIEWICZ B CEDRO A KAMINSKI W LESNIEWSKA A
Citation: E. Pronicka et al., PANCREATIC GLUCAGON-LEVELS IN INFANTS AND CHILDREN WITH HYPERINSULINEMIA, The Journal of pediatrics, 126(6), 1995, pp. 948-951
THE MOLECULAR-BASIS OF ASPARTOACYLASE DEFICIENCY IN EUROPEAN NON-JEWISH PATIENTS
Authors: SHAAG A ANIKSTER Y CHRISTENSEN E GLUSTEIN JZ FOIS A MICHELAKAKIS H NIGRO F PRONICKA E RIBES A ZABOT MT ELPELEG ON
Citation: A. Shaag et al., THE MOLECULAR-BASIS OF ASPARTOACYLASE DEFICIENCY IN EUROPEAN NON-JEWISH PATIENTS, American journal of human genetics, 57(4), 1995, pp. 1315-1315
THE MOLECULAR-BASIS OF CANAVAN (ASPARTOACYLASE DEFICIENCY) DISEASE INEUROPEAN NON-JEWISH PATIENTS
Authors: SHAAG A ANIKSTER Y CHRISTENSEN E GLUSTEIN JZ FOIS A MICHELAKAKIS H NIGRO F PRONICKA E RIBES A ZABOT MT ELPELEG ON
Citation: A. Shaag et al., THE MOLECULAR-BASIS OF CANAVAN (ASPARTOACYLASE DEFICIENCY) DISEASE INEUROPEAN NON-JEWISH PATIENTS, American journal of human genetics, 57(3), 1995, pp. 572-580
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