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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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