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Results: 1-25 | 26-26
Results: 1-25/26
SYMPTOMATIC ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY (POINT MUTATIONH202P) WITH NORMAL IN-VITRO ACTIVITY
Authors: STAUDT M WERMUTH B FREISINGER P HASSLER A PONTZ BF
Citation: M. Staudt et al., SYMPTOMATIC ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY (POINT MUTATIONH202P) WITH NORMAL IN-VITRO ACTIVITY, Journal of inherited metabolic disease, 21(1), 1998, pp. 71-72
EFFECT OF INCREASING DIETARY THREONINE INTAKES ON AMINO-ACID-METABOLISM OF THE CENTRAL-NERVOUS-SYSTEM AND PERIPHERAL-TISSUES IN GROWING RATS
Authors: BOEHM G CERVANTES H GEORGI G JELINEK J SAWATZKI G WERMUTH B COLOMBO JP
Citation: G. Boehm et al., EFFECT OF INCREASING DIETARY THREONINE INTAKES ON AMINO-ACID-METABOLISM OF THE CENTRAL-NERVOUS-SYSTEM AND PERIPHERAL-TISSUES IN GROWING RATS, Pediatric research, 44(6), 1998, pp. 900-906
CIRCULATING IONIZED AND TOTAL MAGNESIUM IN END-STAGE KIDNEY-DISEASE
Authors: PEDROZZI NE TRUTTMANN AC FARAONE R DESCOEUDRES CE WERMUTH B LUTHY CM NUOFFER JM FREY FJ BIANCHETTI MG
Citation: Ne. Pedrozzi et al., CIRCULATING IONIZED AND TOTAL MAGNESIUM IN END-STAGE KIDNEY-DISEASE, Nephron, 79(3), 1998, pp. 288-292
DIAGNOSIS AND TREATMENT OF ORNITHINE TRANSCARBAMYLASE (OTC)-DEFICIENCY
Authors: MONCH E HOFFMANN GF PRZYREMBEL H COLOMBO JP WERMUTH B LEONARD JV
Citation: E. Monch et al., DIAGNOSIS AND TREATMENT OF ORNITHINE TRANSCARBAMYLASE (OTC)-DEFICIENCY, Monatsschrift fur Kinderheilkunde, 146(7), 1998, pp. 652-658
ORNITHINE TRANSCARBAMYLASE DEFICIENCY - 10 NEW MUTATIONS AND HIGH PROPORTION OF DE-NOVO MUTATION IN HETEROZYGOUS FEMALES
Authors: LEIBUNDGUT EO LIECHTIGALLATI S COLOMBO JP WERMUTH B
Citation: Eo. Leibundgut et al., ORNITHINE TRANSCARBAMYLASE DEFICIENCY - 10 NEW MUTATIONS AND HIGH PROPORTION OF DE-NOVO MUTATION IN HETEROZYGOUS FEMALES, Human mutation, 9(5), 1997, pp. 409-411
METABOLIC STROKE IN CARBAMYL-PHOSPHATE SYNTHETASE DEFICIENCY
Authors: SPERL W FELBER S SKLADAL D WERMUTH B
Citation: W. Sperl et al., METABOLIC STROKE IN CARBAMYL-PHOSPHATE SYNTHETASE DEFICIENCY, Neuropediatrics, 28(4), 1997, pp. 229-234
N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY RESPONDING TO CARBAMYLGLUTAMATE
Authors: HINNIE J COLOMBO JP WERMUTH B DRYBURGH FJ
Citation: J. Hinnie et al., N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY RESPONDING TO CARBAMYLGLUTAMATE, Journal of inherited metabolic disease, 20(6), 1997, pp. 839-840
MUTATION OF ORNITHINE TRANSCARBAMYLASE (H136R) IN A GIRL WITH SEVERE INTERMITTENT OROTIC ACIDURIA BUT NORMAL ENZYME-ACTIVITY
Authors: VELLA S STEINER F SCHLUMBOM V ZURBRUGG R WIESMANN UN SCHAFFNER T WERMUTH B
Citation: S. Vella et al., MUTATION OF ORNITHINE TRANSCARBAMYLASE (H136R) IN A GIRL WITH SEVERE INTERMITTENT OROTIC ACIDURIA BUT NORMAL ENZYME-ACTIVITY, Journal of inherited metabolic disease, 20(4), 1997, pp. 517-524
MINOR NEUROLOGICAL FINDINGS AS PRIMARY SY MPTOMS IN A CASE OF ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY
Authors: TREFZ FK SCHNEIDER HC FRAUENDIENSTEGGER G WERMUTH B KORALL H
Citation: Fk. Trefz et al., MINOR NEUROLOGICAL FINDINGS AS PRIMARY SY MPTOMS IN A CASE OF ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY, Monatsschrift fur Kinderheilkunde, 145(3), 1997, pp. 238-241
ORNITHINE TRANSCARBAMYLASE DEFICIENCY - CHARACTERIZATION OF GENE-MUTATIONS AND POLYMORPHISMS
Authors: LEIBUNDGUT EO WERMUTH B COLOMBO JP LIECHTIGALLATI S
Citation: Eo. Leibundgut et al., ORNITHINE TRANSCARBAMYLASE DEFICIENCY - CHARACTERIZATION OF GENE-MUTATIONS AND POLYMORPHISMS, Human mutation, 8(4), 1996, pp. 333-339
COMBINED 3-METHYLGLUTACONIC AND 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA WITH ENDOCARDIAL FIBROELASTOSIS AND DILATATIVE CARDIOMYOPATHY IN MALE AND FEMALE SIBLINGS WITH PARTIAL DEFICIENCY OF COMPLEX II III IN FIBROBLASTS/
Authors: RUESCH S KRAHENBUHL S KLEINLE S LIECHTIGALLATI S SCHAFFNER T WERMUTH B WEBER J WIESMANN UN
Citation: S. Ruesch et al., COMBINED 3-METHYLGLUTACONIC AND 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA WITH ENDOCARDIAL FIBROELASTOSIS AND DILATATIVE CARDIOMYOPATHY IN MALE AND FEMALE SIBLINGS WITH PARTIAL DEFICIENCY OF COMPLEX II III IN FIBROBLASTS/, Enzyme & protein, 49(5-6), 1996, pp. 321-329
IDENTIFICATION OF 4 NOVEL SPLICE-SITE MUTATIONS IN THE ORNITHINE TRANSCARBAMYLASE GENE
Authors: LEIBUNDGUT EO WERMUTH B COLOMBO JP LIECHTIGALLATI S
Citation: Eo. Leibundgut et al., IDENTIFICATION OF 4 NOVEL SPLICE-SITE MUTATIONS IN THE ORNITHINE TRANSCARBAMYLASE GENE, Human genetics, 97(2), 1996, pp. 209-213
A NOVEL 2-NUCLEOTIDE DELETION IN THE ORNITHINE TRANSCARBAMYLASE GENE CAUSING FATAL HYPERAMMONIA IN EARLY-PREGNANCY
Authors: SCHIMANSKI U KRIEGER D HORN M STREMMEL W WERMUTH B THEILMANN L
Citation: U. Schimanski et al., A NOVEL 2-NUCLEOTIDE DELETION IN THE ORNITHINE TRANSCARBAMYLASE GENE CAUSING FATAL HYPERAMMONIA IN EARLY-PREGNANCY, Hepatology, 24(6), 1996, pp. 1413-1415
A NOVEL 2 NUCLEOTIDE DELETION IN THE ORNITHINE TRANSCARBAMYLASE GENE CAUSING FATAL HYPERAMMONIA IN EARLY-PREGNANCY
Authors: SCHIMANSKI U KRIEGER D HORN M STREMMEL W WERMUTH B THEILMANN L
Citation: U. Schimanski et al., A NOVEL 2 NUCLEOTIDE DELETION IN THE ORNITHINE TRANSCARBAMYLASE GENE CAUSING FATAL HYPERAMMONIA IN EARLY-PREGNANCY, Hepatology, 24(4), 1996, pp. 301-301
EFFECTIVENESS OF CYSTEAMINE AND MESNA IN DECREASING INTRACELLULAR CYSTINE CONTENT IN CYSTINOSIS
Authors: KERNLAND K LUTHY CM WERMUTH B BIANCHETTI MG
Citation: K. Kernland et al., EFFECTIVENESS OF CYSTEAMINE AND MESNA IN DECREASING INTRACELLULAR CYSTINE CONTENT IN CYSTINOSIS, Nephron, 74(1), 1996, pp. 250-250
ORNITHINE TRANSCARBAMYLASE DEFICIENCY - NEW SITES WITH INCREASED PROBABILITY OF MUTATION
Authors: LEIBUNDGUT EO LIECHTIGALLATI S COLOMBO JP WERMUTH B
Citation: Eo. Leibundgut et al., ORNITHINE TRANSCARBAMYLASE DEFICIENCY - NEW SITES WITH INCREASED PROBABILITY OF MUTATION, Human genetics, 95(2), 1995, pp. 191-196
CLONING AND EXPRESSION OF CARBONYL REDUCTASE FROM RAT TESTIS
Authors: WERMUTH B MADERHEINEMANN G ERNST E
Citation: B. Wermuth et al., CLONING AND EXPRESSION OF CARBONYL REDUCTASE FROM RAT TESTIS, European journal of biochemistry, 228(2), 1995, pp. 473-479
FIBRINOGEN MILANO-V - A CONGENITAL DYSFIBRINOGENEMIA WITH A GAMMA-275ARG-]CYS SUBSTITUTION
Authors: STEINMANN C BOGLI C JUNGO M LAMMLE B HEINEMANN G WERMUTH B REDAELLI R BAUDO F FURLAN M
Citation: C. Steinmann et al., FIBRINOGEN MILANO-V - A CONGENITAL DYSFIBRINOGENEMIA WITH A GAMMA-275ARG-]CYS SUBSTITUTION, Blood coagulation & fibrinolysis, 5(4), 1994, pp. 463-471
MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY DOES NOT CORRELATE WITH APPARENT LIFE-THREATENING EVENTS AND THE SUDDEN-INFANT-DEATH-SYNDROME - RESULTS FROM PHENYLPROPIONATE LOADING TESTS AND DNA ANALYSIS
Authors: PENZIEN JM MOLZ G WIESMANN UN COLOMBO JP BUHLMANN R WERMUTH B
Citation: Jm. Penzien et al., MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY DOES NOT CORRELATE WITH APPARENT LIFE-THREATENING EVENTS AND THE SUDDEN-INFANT-DEATH-SYNDROME - RESULTS FROM PHENYLPROPIONATE LOADING TESTS AND DNA ANALYSIS, European journal of pediatrics, 153(5), 1994, pp. 352-357
PROPHYLAXIS AND REVERSAL OF IFOSFAMIDE ENCEPHALOPATHY WITH METHYLENE-BLUE
Authors: KUPFER A AESCHLIMANN C WERMUTH B CERNY T
Citation: A. Kupfer et al., PROPHYLAXIS AND REVERSAL OF IFOSFAMIDE ENCEPHALOPATHY WITH METHYLENE-BLUE, Lancet, 343(8900), 1994, pp. 763-764
EXPRESSION, CRYSTALLIZATION AND PRELIMINARY CRYSTALLOGRAPHIC ANALYSISOF HUMAN CARBONYL REDUCTASE
Authors: BOHREN KM WERMUTH B HARRISON D RINGE D PETSKO GA GABBAY KH
Citation: Km. Bohren et al., EXPRESSION, CRYSTALLIZATION AND PRELIMINARY CRYSTALLOGRAPHIC ANALYSISOF HUMAN CARBONYL REDUCTASE, Journal of Molecular Biology, 244(5), 1994, pp. 659-664
NEW SUBSTITUTION, GAMMA-358-SER-]CYS, IN FIBRINOGEN MILANO-VII CAUSESDEFECTIVE FIBRIN POLYMERIZATION
Authors: STEINMANN C BOGLI C JUNGO M LAMMLE B HEINEMANN G WERMUTH B REDAELLI R BAUDO F FURLAN M
Citation: C. Steinmann et al., NEW SUBSTITUTION, GAMMA-358-SER-]CYS, IN FIBRINOGEN MILANO-VII CAUSESDEFECTIVE FIBRIN POLYMERIZATION, Blood, 84(6), 1994, pp. 1874-1880
FIBRINOGEN BERN-I - SUBSTITUTION GAMMA 337 ASN-]LYS IS RESPONSIBLE FOR DEFECTIVE FIBRIN MONOMER POLYMERIZATION
Authors: STEINMANN C REBER P JUNGO M LAMMLE B HEINEMANN G WERMUTH B FURLAN M
Citation: C. Steinmann et al., FIBRINOGEN BERN-I - SUBSTITUTION GAMMA 337 ASN-]LYS IS RESPONSIBLE FOR DEFECTIVE FIBRIN MONOMER POLYMERIZATION, Thrombosis and haemostasis, 69(6), 1993, pp. 818-818
A NEW SUBSTITUTION, GAMMA 358 SER-]CYS, IN FIBRINOGEN MILANO-VII CAUSES DEFECTIVE FIBRIN POLYMERIZATION
Authors: STEINMANN C BOGLI C JUNGO M LAMMIE B HEINEMANN G WERMUTH B REDAELLI R BAUDO F FURLAN M
Citation: C. Steinmann et al., A NEW SUBSTITUTION, GAMMA 358 SER-]CYS, IN FIBRINOGEN MILANO-VII CAUSES DEFECTIVE FIBRIN POLYMERIZATION, Thrombosis and haemostasis, 69(6), 1993, pp. 962-962
AUTOCATALYTIC MODIFICATION OF HUMAN CARBONYL REDUCTASE BY 2-OXOCARBOXYLIC ACIDS
Authors: WERMUTH B BOHREN KM ERNST E
Citation: B. Wermuth et al., AUTOCATALYTIC MODIFICATION OF HUMAN CARBONYL REDUCTASE BY 2-OXOCARBOXYLIC ACIDS, FEBS letters, 335(2), 1993, pp. 151-154
Risultati: 1-25 | 26-26