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Results: 1-25 | 26-43
Results: 1-25/43
DOMINANT INHERITANCE OF CONGENITAL HYPERINSULINISM AND HYPERAMMONEMIADUE TO MUTATIONS IN GLUTAMATE-DEHYDROGENASE
Authors: HISSONG JG FANG J HSU BYHL KHARLIP JN PERLMAN K STANLEY CA
Citation: Jg. Hissong et al., DOMINANT INHERITANCE OF CONGENITAL HYPERINSULINISM AND HYPERAMMONEMIADUE TO MUTATIONS IN GLUTAMATE-DEHYDROGENASE, Journal of investigative medicine, 46(1), 1998, pp. 185-185
LINKAGE-DISEQUILIBRIUM MAPPING WITHOUT GENOTYPING
Authors: CHEUNG VG GREGG JP GOGOLINEWENS KJ BANDONG J STANLEY CA BAKER L HIGGINS MJ NOWAK NJ SHOWS TB EWENS WJ SPIELMAN RS
Citation: Vg. Cheung et al., LINKAGE-DISEQUILIBRIUM MAPPING WITHOUT GENOTYPING, Nature genetics, 18(3), 1998, pp. 225-230
GENETIC-HETEROGENEITY IN FAMILIAL HYPERINSULINISM (VOL 7, PG 1119, 1998)
Authors: NESTOROWICZ A GLASER B WILSON BA SHYNG SL NICHOLS CG STANLEY CA THORNTON PS PERMUTT MA
Citation: A. Nestorowicz et al., GENETIC-HETEROGENEITY IN FAMILIAL HYPERINSULINISM (VOL 7, PG 1119, 1998), Human molecular genetics (Print), 7(9), 1998, pp. 1527-1527
GENETIC-HETEROGENEITY IN FAMILIAL HYPERINSULINISM
Authors: NESTOROWICZ A GLASER B WILSON BA SHYNG SL NICHOLS CG STANLEY CA THORNTON PS PERMUTT MA
Citation: A. Nestorowicz et al., GENETIC-HETEROGENEITY IN FAMILIAL HYPERINSULINISM, Human molecular genetics (Print), 7(7), 1998, pp. 1119-1128
CONGENITAL HYPERINSULINISM AND THE SURGEON - LESSONS LEARNED OVER 35 YEARS
Authors: LOVVORN HN NANCE ML FERRY RJ STOLTE L BAKER L ONEILL JA SCHNAUFER L STANLEY CA ADZICK NS
Citation: Hn. Lovvorn et al., CONGENITAL HYPERINSULINISM AND THE SURGEON - LESSONS LEARNED OVER 35 YEARS, Pediatrics (Evanston), 102(3), 1998, pp. 795-796
FAMILIAL HYPERINSULINISM CAUSED BY AN ACTIVATING GLUCOKINASE MUTATION
Authors: GLASER B KESAVAN P HEYMAN M DAVIS E CUESTA A BUCHS A STANLEY CA THORNTON PS PERMUTT MA MATSCHINSKY FM HEROLD KC
Citation: B. Glaser et al., FAMILIAL HYPERINSULINISM CAUSED BY AN ACTIVATING GLUCOKINASE MUTATION, The New England journal of medicine, 338(4), 1998, pp. 226-230
HYPERINSULINISM AND HYPERAMMONEMIA IN INFANTS WITH REGULATORY MUTATIONS OF THE GLUTAMATE-DEHYDROGENASE GENE
Authors: STANLEY CA LIEU YK HSU BYL BURLINA AB GREENBERG CR HOPWOOD NJ PERLMAN K RICH BH ZAMMARCHI E PONCZ M
Citation: Ca. Stanley et al., HYPERINSULINISM AND HYPERAMMONEMIA IN INFANTS WITH REGULATORY MUTATIONS OF THE GLUTAMATE-DEHYDROGENASE GENE, The New England journal of medicine, 338(19), 1998, pp. 1352-1357
DISSECTING THE SPECTRUM OF FATTY-ACID OXIDATION DISORDERS
Authors: STANLEY CA
Citation: Ca. Stanley, DISSECTING THE SPECTRUM OF FATTY-ACID OXIDATION DISORDERS, The Journal of pediatrics, 132(3), 1998, pp. 384-386
FAMILIAL HYPERINSULINISM WITH APPARENT AUTOSOMAL-DOMINANT INHERITANCE- CLINICAL AND GENETIC-DIFFERENCES FROM THE AUTOSOMAL RECESSIVE VARIANT
Authors: THORNTON PS SATINSMITH MS HEROLD K GLASER B CHIU KC NESTOROWICZ A PERMUTT MA BAKER L STANLEY CA
Citation: Ps. Thornton et al., FAMILIAL HYPERINSULINISM WITH APPARENT AUTOSOMAL-DOMINANT INHERITANCE- CLINICAL AND GENETIC-DIFFERENCES FROM THE AUTOSOMAL RECESSIVE VARIANT, The Journal of pediatrics, 132(1), 1998, pp. 9-14
CARNITINE EFFECTS ON COENZYME-A PROFILES IN RAT-LIVER WITH HYPOGLYCININHIBITION OF MULTIPLE DEHYDROGENASES
Authors: LIEU YK HSU BYL PRICE WA CORKEY BE STANLEY CA
Citation: Yk. Lieu et al., CARNITINE EFFECTS ON COENZYME-A PROFILES IN RAT-LIVER WITH HYPOGLYCININHIBITION OF MULTIPLE DEHYDROGENASES, American journal of physiology: endocrinology and metabolism, 35(3), 1997, pp. 359-366
HYPERINSULINISM IN INFANTS AND CHILDREN
Authors: STANLEY CA
Citation: Ca. Stanley, HYPERINSULINISM IN INFANTS AND CHILDREN, The Pediatric clinics of North America, 44(2), 1997, pp. 363
FASTING HYPOKETOTIC COMA IN A CHILD WITH DEFICIENCY OF MITOCHONDRIAL 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE
Authors: THOMPSON GN HSU BYL PITT JJ TREACY E STANLEY CA
Citation: Gn. Thompson et al., FASTING HYPOKETOTIC COMA IN A CHILD WITH DEFICIENCY OF MITOCHONDRIAL 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE, The New England journal of medicine, 337(17), 1997, pp. 1203-1207
INSULIN-LIKE-GROWTH-FACTOR BINDING PROTEIN-1 LEVELS IN THE DIAGNOSIS OF HYPOGLYCEMIA CAUSED BY HYPERINSULINISM
Authors: KATZ LEL SATINSMITH MS COLLETTSOLBERG P THORTON PS BAKER L STANLEY CA COHEN P
Citation: Lel. Katz et al., INSULIN-LIKE-GROWTH-FACTOR BINDING PROTEIN-1 LEVELS IN THE DIAGNOSIS OF HYPOGLYCEMIA CAUSED BY HYPERINSULINISM, The Journal of pediatrics, 131(2), 1997, pp. 193-199
MITOCHONDRIAL CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY PRESENTING AS SUDDEN NEONATAL DEATH
Authors: CHALMERS RA STANLEY CA ENGLISH N WIGGLESWORTH JS
Citation: Ra. Chalmers et al., MITOCHONDRIAL CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY PRESENTING AS SUDDEN NEONATAL DEATH, The Journal of pediatrics, 131(2), 1997, pp. 220-225
SUDDEN NEONATAL DEATH IN CARNITINE TRANSPORTER DEFICIENCY
Authors: RINALDO P STANLEY CA HSU BYL SANCHEZ LA STERN HJ
Citation: P. Rinaldo et al., SUDDEN NEONATAL DEATH IN CARNITINE TRANSPORTER DEFICIENCY, The Journal of pediatrics, 131(2), 1997, pp. 304-305
A SYNDROME OF CONGENITAL HYPERINSULINISM AND HYPERAMMONEMIA
Authors: WEINZIMER SA STANLEY CA BERRY GT YUDKOFF M TUCHMAN M THORNTON PS
Citation: Sa. Weinzimer et al., A SYNDROME OF CONGENITAL HYPERINSULINISM AND HYPERAMMONEMIA, The Journal of pediatrics, 130(4), 1997, pp. 661-664
FREQUENCY OF SUR1 AND KIR6.2 MUTATIONS ASSOCIATED WITH FAMILIAL HYPERINSULINISM (HI)
Authors: NESTOROWICZ A BEHN P GLASER B WILSON BA SCHOOR KP LANDAU H STANLEY CA THORNTON PS PERMUTT MA
Citation: A. Nestorowicz et al., FREQUENCY OF SUR1 AND KIR6.2 MUTATIONS ASSOCIATED WITH FAMILIAL HYPERINSULINISM (HI), Diabetologia, 40, 1997, pp. 12-12
A NONSENSE MUTATION IN THE INWARD RECTIFIER POTASSIUM CHANNEL GENE, KIR6.2, IS ASSOCIATED WITH FAMILIAL HYPERINSULINISM
Authors: NESTOROWICZ A INAGAKI N GONOI T SCHOOR KP WILSON BA GLASER B LANDAU H STANLEY CA THORNTON PS SEINO S PERMUTT MA
Citation: A. Nestorowicz et al., A NONSENSE MUTATION IN THE INWARD RECTIFIER POTASSIUM CHANNEL GENE, KIR6.2, IS ASSOCIATED WITH FAMILIAL HYPERINSULINISM, Diabetes, 46(11), 1997, pp. 1743-1748
HYPOGLYCEMIA IN INFANTS WITH HYPERINSULINISM GI HYPERAMMONEMIA - GAINOF FUNCTION MUTATIONS IN THE PATHWAY OF LEUCINE-MEDIATED INSULIN-SECRETION
Authors: STANLEY CA LIEU Y HSU B PONCZ M
Citation: Ca. Stanley et al., HYPOGLYCEMIA IN INFANTS WITH HYPERINSULINISM GI HYPERAMMONEMIA - GAINOF FUNCTION MUTATIONS IN THE PATHWAY OF LEUCINE-MEDIATED INSULIN-SECRETION, Diabetes, 46, 1997, pp. 833-833
HYPOGLYCEMIA IS A FEATURE OF KABUKI-SYNDROME AND CAN BE DUE TO HYPERINSULINISM
Authors: MING JE SATINSMITH M BASON L STANLEY CA ZACKAL EH
Citation: Je. Ming et al., HYPOGLYCEMIA IS A FEATURE OF KABUKI-SYNDROME AND CAN BE DUE TO HYPERINSULINISM, American journal of human genetics, 61(4), 1997, pp. 604-604
MUTATIONS IN THE SULFONYLUREA RECEPTOR GENE ARE ASSOCIATED WITH FAMILIAL HYPERINSULINISM IN ASHKENAZI JEWS
Authors: NESTOROWICZ A WILSON BA SCHOOR KP INOUE H GLASER B LANDAU H STANLEY CA THORNTON PS CLEMENT JP BRYAN J AGUILARBRYAN L PERMUTT MA
Citation: A. Nestorowicz et al., MUTATIONS IN THE SULFONYLUREA RECEPTOR GENE ARE ASSOCIATED WITH FAMILIAL HYPERINSULINISM IN ASHKENAZI JEWS, Human molecular genetics, 5(11), 1996, pp. 1813-1822
PHONON EMISSION IN RESONANT-TUNNELING STRUCTURES
Authors: WIGMORE JK GILTROW M SAHRAOUITAHAR M KOZOREZOV AG DAVIES JH STANLEY CA VOGEL B WILKINSON CDW
Citation: Jk. Wigmore et al., PHONON EMISSION IN RESONANT-TUNNELING STRUCTURES, Physica. B, Condensed matter, 220, 1996, pp. 31-33
ENDOCARDIAL FIBROELASTOSIS AND PRIMARY CARNITINE DEFICIENCY DUE TO A DEFECT IN THE PLASMA-MEMBRANE CARNITINE TRANSPORTER
Authors: BENNETT MJ HALE DE POLLITT RJ STANLEY CA VARIEND S
Citation: Mj. Bennett et al., ENDOCARDIAL FIBROELASTOSIS AND PRIMARY CARNITINE DEFICIENCY DUE TO A DEFECT IN THE PLASMA-MEMBRANE CARNITINE TRANSPORTER, Clinical cardiology, 19(3), 1996, pp. 243-246
FIRST PRENATAL-DIAGNOSIS OF THE CARNITINE TRANSPORTER DEFECT
Authors: CHRISTODOULOU J TEO SH HAMMOND J SIM KG HSU BYL STANLEY CA WATSON B LAU KC WILCKEN B
Citation: J. Christodoulou et al., FIRST PRENATAL-DIAGNOSIS OF THE CARNITINE TRANSPORTER DEFECT, American journal of medical genetics, 66(1), 1996, pp. 21-24
USE OF A SENSITIVE ASSAY TO DOCUMENT ELEVATED INSULIN LEVELS IN CONGENITAL HYPERINSULINISM
Authors: SATINSMITH MS KATZ LEL DROTT HR COLLETSOLBERG P WEINZIMER SA THORNTON PS BAKER L STANLEY CA
Citation: Ms. Satinsmith et al., USE OF A SENSITIVE ASSAY TO DOCUMENT ELEVATED INSULIN LEVELS IN CONGENITAL HYPERINSULINISM, Pediatric research, 39(4), 1996, pp. 575-575
Risultati: 1-25 | 26-43