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Results: 1-25 | 26-50 | 51-51
Results: 1-25/51
A CASE OF AROMATIC LEVO-AMINO ACID DECARBOXYLASE DEFICIENCY AND EPISODIC HYPOGLYCEMIA
Authors: THORARENSEN O ROBERTS C BROOKS D BERRY GT KAYE EM TENNEKOON G
Citation: O. Thorarensen et al., A CASE OF AROMATIC LEVO-AMINO ACID DECARBOXYLASE DEFICIENCY AND EPISODIC HYPOGLYCEMIA, Annals of neurology, 44(3), 1998, pp. 35-35
H-1 MR SPECTROSCOPY OF THE BASAL GANGLIA IN CHILDHOOD - A SEMIQUANTITATIVE ANALYSIS
Authors: LAM WWM WANG ZJ ZHAO H BERRY GT KAPLAN P GIBSON J KAPLAN BS BILANIUK LT HUNTER JV HASELGROVE JC ZIMMERMANN RA
Citation: Wwm. Lam et al., H-1 MR SPECTROSCOPY OF THE BASAL GANGLIA IN CHILDHOOD - A SEMIQUANTITATIVE ANALYSIS, Neuroradiology, 40(5), 1998, pp. 315-323
CHRONIC INTESTINAL PSEUDOOBSTRUCTION AS A PRESENTING FEATURE IN MITOCHONDRIAL ENCEPHALOMYOPATHIES
Authors: VERMA A BERRY GT PICCOLI DA MORAES CT
Citation: A. Verma et al., CHRONIC INTESTINAL PSEUDOOBSTRUCTION AS A PRESENTING FEATURE IN MITOCHONDRIAL ENCEPHALOMYOPATHIES, Neurology, 50(4), 1998, pp. 3003-3003
ELEVATION OF ERYTHROCYTE REDOX POTENTIAL LINKED TO GALACTONATE BIOSYNTHESIS - ELIMINATION BY TOLRESTAT
Authors: BERRY GT WEHRLI S REYNOLDS R PALMIERI M FRANGOS M WILLIAMSON JR SEGAL S
Citation: Gt. Berry et al., ELEVATION OF ERYTHROCYTE REDOX POTENTIAL LINKED TO GALACTONATE BIOSYNTHESIS - ELIMINATION BY TOLRESTAT, Metabolism, clinical and experimental, 47(11), 1998, pp. 1423-1428
TRANSCRIPTION OF THE SODIUM MYO-INOSITOL COTRANSPORTER GENE IS REGULATED BY MULTIPLE TONICITY-RESPONSIVE ENHANCERS SPREAD OVER 50 KILOBASE PAIRS IN THE 5'-FLANKING REGION/
Authors: RIM JS ATTA MG DAHL SC BERRY GT HANDLER JS KWON HM
Citation: Js. Rim et al., TRANSCRIPTION OF THE SODIUM MYO-INOSITOL COTRANSPORTER GENE IS REGULATED BY MULTIPLE TONICITY-RESPONSIVE ENHANCERS SPREAD OVER 50 KILOBASE PAIRS IN THE 5'-FLANKING REGION/, The Journal of biological chemistry, 273(32), 1998, pp. 20615-20621
LETHAL HYPERAMMONEMIA FOLLOWING ORTHOTOPIC LUNG TRANSPLANTATION (OLT)
Authors: YANG YX BERRY GT NUNES FA PALEVSKY HI TUCHMAN M KAISER LR KOTLOFF R FURTH EE BAVARIA JE STECKER MM KAPLAN P LICHTENSTEIN GR
Citation: Yx. Yang et al., LETHAL HYPERAMMONEMIA FOLLOWING ORTHOTOPIC LUNG TRANSPLANTATION (OLT), Gastroenterology, 114(4), 1998, pp. 697-697
INHIBITION OF GALACTONATE SYNTHESIS (BY TOLRESTAT) PREVENTS GALACTOSE-INDUCED REDUCTIVE STRESS IN HUMAN ERYTHROCYTES
Authors: BERRY GT WEHRLI S REYNOLDS R PALMIERI M FRANGOS M WILLIAMSON JR SEGAL S
Citation: Gt. Berry et al., INHIBITION OF GALACTONATE SYNTHESIS (BY TOLRESTAT) PREVENTS GALACTOSE-INDUCED REDUCTIVE STRESS IN HUMAN ERYTHROCYTES, Diabetes, 47, 1998, pp. 1067-1067
CLONING OF THE HUMAN NA+ MYO-INOSITOL COTRANSPORTER (SMIT) GENE AND IDENTIFICATION OF REGIONS REGULATING TRANSCRIPTION IN RESPONSE TO HYPERTONICITY/
Authors: ATTA MG RIM JS LORICA V MALLEE J BERRY GT HANDLER JS KWON HM
Citation: Mg. Atta et al., CLONING OF THE HUMAN NA+ MYO-INOSITOL COTRANSPORTER (SMIT) GENE AND IDENTIFICATION OF REGIONS REGULATING TRANSCRIPTION IN RESPONSE TO HYPERTONICITY/, Journal of the American Society of Nephrology, 8, 1997, pp. 236-236
MOLECULAR AND BIOCHEMICAL-ANALYSIS OF PROTECTIVE PROTEIN CATHEPSIN A MUTATIONS - CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS (VOL 5, PG 1977, 1996)/
Authors: ZHOU XY VANDERSPOEL A ROTTIER R HALE G WILLEMSEN R BERRY GT STRISCIUGLIO P MORRONE A ZAMMARCHI E ANDRIA G DAZZO A
Citation: Xy. Zhou et al., MOLECULAR AND BIOCHEMICAL-ANALYSIS OF PROTECTIVE PROTEIN CATHEPSIN A MUTATIONS - CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS (VOL 5, PG 1977, 1996)/, Human molecular genetics, 6(1), 1997, pp. 146-146
THE STRUCTURAL ORGANIZATION OF THE HUMAN NA+ MYO-INOSITOL COTRANSPORTER (SLC5A3) GENE AND CHARACTERIZATION OF THE PROMOTER/
Authors: MALLEE JJ ATTA MG LORICA V RIM JS KWON HM LUCENTE AD WANG Y BERRY GT
Citation: Jj. Mallee et al., THE STRUCTURAL ORGANIZATION OF THE HUMAN NA+ MYO-INOSITOL COTRANSPORTER (SLC5A3) GENE AND CHARACTERIZATION OF THE PROMOTER/, Genomics, 46(3), 1997, pp. 459-465
QUANTITATIVE ASSESSMENT OF WHOLE-BODY GALACTOSE METABOLISM IN GALACTOSEMIC PATIENTS
Authors: BERRY GT NISSIM I GIBSON JB MAZUR AT LIN Z ELSAS LJ SINGH RH KLEIN PD SEGAL S
Citation: Gt. Berry et al., QUANTITATIVE ASSESSMENT OF WHOLE-BODY GALACTOSE METABOLISM IN GALACTOSEMIC PATIENTS, European journal of pediatrics, 156, 1997, pp. 43-49
URINARY GALACTONATE IN PATIENTS WITH GALACTOSEMIA - QUANTITATION BY NUCLEAR-MAGNETIC-RESONANCE SPECTROSCOPY
Authors: WEHRLI SL BERRY GT PALMIERI M MAZUR A ELSAS L SEGAL S
Citation: Sl. Wehrli et al., URINARY GALACTONATE IN PATIENTS WITH GALACTOSEMIA - QUANTITATION BY NUCLEAR-MAGNETIC-RESONANCE SPECTROSCOPY, Pediatric research, 42(6), 1997, pp. 855-861
A NOVEL MITOCHONDRIAL G8313A MUTATION ASSOCIATED WITH PROMINENT INITIAL GASTROINTESTINAL SYMPTOMS AND PROGRESSIVE ENCEPHALONEUROPATHY
Authors: VERMA A PICCOLI DA BONILLA E BERRY GT DIMAURO S MORAES CT
Citation: A. Verma et al., A NOVEL MITOCHONDRIAL G8313A MUTATION ASSOCIATED WITH PROMINENT INITIAL GASTROINTESTINAL SYMPTOMS AND PROGRESSIVE ENCEPHALONEUROPATHY, Pediatric research, 42(4), 1997, pp. 448-454
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
FATAL HYPERAMMONEMIA FOLLOWING ORTHOTOPIC LUNG TRANSPLANTATION
Authors: LICHTENSTEIN GR KAISER LR TUCHMAN M PALEVSKY HI KOTLOFF RM OBRIEN CB FURTH EE RAPS EC BERRY GT
Citation: Gr. Lichtenstein et al., FATAL HYPERAMMONEMIA FOLLOWING ORTHOTOPIC LUNG TRANSPLANTATION, Gastroenterology, 112(1), 1997, pp. 236-240
HEPATIC GLUTAMINE-SYNTHETASE DEFICIENCY IN FATAL HYPERAMMONEMIA AFTERLUNG TRANSPLANTATION
Authors: TUCHMAN M LICHTENSTEIN GR RAJAGOPAL BS MCCANN MT FURTH EE BAVARIA J KAPLAN PB GIBSON JB BERRY GT
Citation: M. Tuchman et al., HEPATIC GLUTAMINE-SYNTHETASE DEFICIENCY IN FATAL HYPERAMMONEMIA AFTERLUNG TRANSPLANTATION, Annals of internal medicine, 127(6), 1997, pp. 446-449
STRUCTURE OF THE HUMAN NA+ MYO-INOSITOL COTRANSPORTER (SLC5A3) GENE/
Authors: MALLEE JJ ATTA MG LORICA V RIM JS KWON HM LUCENTE AD WANG Y BERRY GT
Citation: Jj. Mallee et al., STRUCTURE OF THE HUMAN NA+ MYO-INOSITOL COTRANSPORTER (SLC5A3) GENE/, American journal of human genetics, 61(4), 1997, pp. 1019-1019
LIVER-TRANSPLANTATION FOR MAPLE-SYRUP-URINE-DISEASE (MSUD) AND METHYLMALONIC ACIDOPATHY (MMA)
Authors: KAPLAN P MAZUR A SMITH R OLTHOFF K MALLER E PALMIERI M BERRY GT
Citation: P. Kaplan et al., LIVER-TRANSPLANTATION FOR MAPLE-SYRUP-URINE-DISEASE (MSUD) AND METHYLMALONIC ACIDOPATHY (MMA), American journal of human genetics, 61(4), 1997, pp. 1477-1477
EFFECT OF GALACTOSE LOADING ON GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE (GALT) TARGETED MICE
Authors: LESLIE ND MCNAMARA PD BERRY GT SEGAL S
Citation: Nd. Leslie et al., EFFECT OF GALACTOSE LOADING ON GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE (GALT) TARGETED MICE, American journal of human genetics, 61(4), 1997, pp. 1489-1489
MOLECULAR AND BIOCHEMICAL-ANALYSIS OF PROTECTIVE PROTEIN CATHEPSIN-A MUTATIONS - CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS/
Authors: ZHOU XY VANDERSPOEL A ROTTIER R HALE G WILLEMSEN R BERRY GT STRISCIUGLIO P ANDRIA G DAZZO A
Citation: Xy. Zhou et al., MOLECULAR AND BIOCHEMICAL-ANALYSIS OF PROTECTIVE PROTEIN CATHEPSIN-A MUTATIONS - CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS/, Human molecular genetics, 5(12), 1996, pp. 1977-1987
MULTIPLE COMPARISON OF PRIMARY STRUCTURE OF THE OSMOREGULATORY NA(+) MYO-INOSITOL COTRANSPORTER FROM BOVINE, HUMAN, AND CANINE SPECIES/
Authors: MALLEE JJ PARELLA T KWON HM BERRY GT
Citation: Jj. Mallee et al., MULTIPLE COMPARISON OF PRIMARY STRUCTURE OF THE OSMOREGULATORY NA(+) MYO-INOSITOL COTRANSPORTER FROM BOVINE, HUMAN, AND CANINE SPECIES/, Mammalian genome, 7(3), 1996, pp. 252-252
A NOVEL MITOCHONDRIAL-DNA G8313A MUTATION ASSOCIATED WITH SEVERE CHILDHOOD ENCEPHALOMYOPATHY
Authors: VERMA A MORAES CT PICCOLI DA BERRY GT
Citation: A. Verma et al., A NOVEL MITOCHONDRIAL-DNA G8313A MUTATION ASSOCIATED WITH SEVERE CHILDHOOD ENCEPHALOMYOPATHY, Annals of neurology, 40(3), 1996, pp. 204-204
THE 21Q22.1-STS-MARKER, VN02 (EST00541 CDNA), IS PART OF THE 3' SEQUENCE OF THE HUMAN NA+ MYO-INOSITOL COTRANSPORTER (SLC5A3)/
Authors: BERRY GT MALLEE JJ BLOUIN JL ANTONARAKIS SE
Citation: Gt. Berry et al., THE 21Q22.1-STS-MARKER, VN02 (EST00541 CDNA), IS PART OF THE 3' SEQUENCE OF THE HUMAN NA+ MYO-INOSITOL COTRANSPORTER (SLC5A3)/, Cytogenetics and cell genetics, 73(1-2), 1996, pp. 77-78
MYOINOSITOL LEVELS IN TRISOMY-21 CELLS
Authors: MALLEE JJ WANG Y PARRELLA T WEHRLI S STATES B REYNOLDS RA BERRY GT
Citation: Jj. Mallee et al., MYOINOSITOL LEVELS IN TRISOMY-21 CELLS, Pediatric research, 39(4), 1996, pp. 865-865
ELEVATED METHYLMALONIC ACID AND TOTAL HOMOCYSTEINE LEVELS SHOW HIGH PREVALENCE OF VITAMIN-B-12 DEFICIENCY AFTER GASTRIC-SURGERY
Authors: SUMNER AE CHIN MM ABRAHM JL BERRY GT GRACELY EJ ALLEN RH STABLER SP
Citation: Ae. Sumner et al., ELEVATED METHYLMALONIC ACID AND TOTAL HOMOCYSTEINE LEVELS SHOW HIGH PREVALENCE OF VITAMIN-B-12 DEFICIENCY AFTER GASTRIC-SURGERY, Annals of internal medicine, 124(5), 1996, pp. 469
Risultati: 1-25 | 26-50 | 51-51