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Results: 1-25 | 26-42
Results: 1-25/42
IDENTIFICATION OF 4 NEW MUTATIONS IN THE SHORT-CHAIN ACYL-COA DEHYDROGENASE (SCAD) GENE IN 2 PATIENTS - ONE OF THE VARIANT ALLELES, 511C-]T, IS PRESENT AT AN UNEXPECTEDLY HIGH-FREQUENCY IN THE GENERAL-POPULATION, AS WAS THE CASE FOR 625G-]A, TOGETHER CONFERRING SUSCEPTIBILITY TOETHYLMALONIC ACIDURIA
Authors: GREGERSEN N WINTER VS CORYDON MJ CORYDON TJ RINALDO P RIBES A MARTINEZ G BENNETT MJ VIANEYSABAN C BHALA A HALE DE LEHNERT W KMOCH S ROIG M RIUDOR E EIBERG H ANDRESEN BS BROSS P BOLUND LA KOLVRAA S
Citation: N. Gregersen et al., IDENTIFICATION OF 4 NEW MUTATIONS IN THE SHORT-CHAIN ACYL-COA DEHYDROGENASE (SCAD) GENE IN 2 PATIENTS - ONE OF THE VARIANT ALLELES, 511C-]T, IS PRESENT AT AN UNEXPECTEDLY HIGH-FREQUENCY IN THE GENERAL-POPULATION, AS WAS THE CASE FOR 625G-]A, TOGETHER CONFERRING SUSCEPTIBILITY TOETHYLMALONIC ACIDURIA, Human molecular genetics, 7(4), 1998, pp. 619-627
RETROSPECTIVE BIOCHEMICAL SCREENING OF FATTY-ACID OXIDATION DISORDERSIN POSTMORTEM LIVERS OF 418 CASES OF SUDDEN-DEATH IN THE FIRST-YEAR OF LIFE
Authors: BOLES RG BUCK EA BLITZER MG PLATT MS COWAN TM MARTIN SK YOON HR MADSEN JA REYESMUGICA M RINALDO P
Citation: Rg. Boles et al., RETROSPECTIVE BIOCHEMICAL SCREENING OF FATTY-ACID OXIDATION DISORDERSIN POSTMORTEM LIVERS OF 418 CASES OF SUDDEN-DEATH IN THE FIRST-YEAR OF LIFE, The Journal of pediatrics, 132(6), 1998, pp. 924-933
A NOVEL ASSOCIATION BETWEEN MICROVESICULAR STEATO-HEPATITIS AND A COMMON MUTATION IN THE BETA-OXIDATION CYCLE
Authors: IBDAH JA BENNETT MJ RINALDO P STRAUSS AW
Citation: Ja. Ibdah et al., A NOVEL ASSOCIATION BETWEEN MICROVESICULAR STEATO-HEPATITIS AND A COMMON MUTATION IN THE BETA-OXIDATION CYCLE, Gastroenterology, 114(4), 1998, pp. 252-252
MODULATION OF B-12 DOSAGE AND RESPONSE IN FETAL TREATMENT OF METHYLMALONIC ACIDURIA (MMA) - TITRATION OF TREATMENT DOSE TO SERUM AND URINE MMA
Authors: EVANS MI DUQUETTE DA RINALDO P BAWLE E ROSENBLATT DS WHITTY J QUINTERO RA JOHNSON MP
Citation: Mi. Evans et al., MODULATION OF B-12 DOSAGE AND RESPONSE IN FETAL TREATMENT OF METHYLMALONIC ACIDURIA (MMA) - TITRATION OF TREATMENT DOSE TO SERUM AND URINE MMA, Fetal diagnosis and therapy, 12(1), 1997, pp. 21-23
CLONING, EXPRESSION, AND CHROMOSOMAL ASSIGNMENT OF THE HUMAN MITOCHONDRIAL INTERMEDIATE PEPTIDASE GENE (MIPEP)
Authors: CHEW A BUCK EA PERETZ S SIRUGO G RINALDO P ISAYA G
Citation: A. Chew et al., CLONING, EXPRESSION, AND CHROMOSOMAL ASSIGNMENT OF THE HUMAN MITOCHONDRIAL INTERMEDIATE PEPTIDASE GENE (MIPEP), Genomics, 40(3), 1997, pp. 493-496
ETHYLMALONIC ACIDURIA IN SHORT-CHAIN ACYL COA DEHYDROGENASE-DEFICIENCY - RECOGNITION OF THE PHENOTYPE, GENETIC-POLYMORPHISM, AND CLINICAL IMPLICATIONS
Authors: LAVENSTEIN B BICK D RINALDO P
Citation: B. Lavenstein et al., ETHYLMALONIC ACIDURIA IN SHORT-CHAIN ACYL COA DEHYDROGENASE-DEFICIENCY - RECOGNITION OF THE PHENOTYPE, GENETIC-POLYMORPHISM, AND CLINICAL IMPLICATIONS, Annals of neurology, 42(3), 1997, pp. 118-118
MEDIUM-CHAIN 3-KETOACYL-COENZYME A THIOLASE DEFICIENCY - A NEW DISORDER OF MITOCHONDRIAL FATTY-ACID BETA-OXIDATION
Authors: KAMIJO T INDO Y SOURI M AOYAMA T HARA T YAMAMOTO S USHIKUBO S RINALDO P MATSUDA I KOMIYAMA A HASHIMOTO T
Citation: T. Kamijo et al., MEDIUM-CHAIN 3-KETOACYL-COENZYME A THIOLASE DEFICIENCY - A NEW DISORDER OF MITOCHONDRIAL FATTY-ACID BETA-OXIDATION, Pediatric research, 42(5), 1997, pp. 569-576
LIVER-DISEASE IN PREGNANCY
Authors: RINALDO P TREEM WR RIELY CA
Citation: P. Rinaldo et al., LIVER-DISEASE IN PREGNANCY, The New England journal of medicine, 336(5), 1997, pp. 377-378
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
CLONING AND CHARACTERIZATION OF A NOVEL PEPTIDASE FROM RAT AND HUMAN ILEUM
Authors: SHNEIDER BL THEVANANTHER S MOYER MS WALTERS HC RINALDO P DEVARAJAN P SUN AQ DAWSON PA ANANTHANARAYANAN M
Citation: Bl. Shneider et al., CLONING AND CHARACTERIZATION OF A NOVEL PEPTIDASE FROM RAT AND HUMAN ILEUM, The Journal of biological chemistry, 272(49), 1997, pp. 31006-31015
SUDDEN-DEATH BEYOND SIDS
Authors: BOLES RG BOESEL C RINALDO P
Citation: Rg. Boles et al., SUDDEN-DEATH BEYOND SIDS, PEDIATRIC PATHOLOGY & LABORATORY MEDICINE, 16(4), 1996, pp. 691-693
DIAGNOSIS OF METABOLIC DISORDERS IN SUDDEN-DEATH CASES BY ACYLCARNITINE ANALYSIS OF POSTMORTEM BILE
Authors: RINALDO P GOVINDARAJU DR RASHED M BENNETT MJ
Citation: P. Rinaldo et al., DIAGNOSIS OF METABOLIC DISORDERS IN SUDDEN-DEATH CASES BY ACYLCARNITINE ANALYSIS OF POSTMORTEM BILE, The FASEB journal, 10(3), 1996, pp. 2712-2712
ABNORMAL FATTY-ACID TRANSPORT IN FIBROBLASTS FROM A PATIENT WITH RECURRENT LIVER-FAILURE
Authors: ALODAIB A SHNEIDER BL BENNETT MJ AMESSE L FRIEDMAN AL POBER BP SUCHY FJ RINALDO P
Citation: A. Alodaib et al., ABNORMAL FATTY-ACID TRANSPORT IN FIBROBLASTS FROM A PATIENT WITH RECURRENT LIVER-FAILURE, Hepatology, 24(4), 1996, pp. 299-299
NONINVASIVE PROBING OF CITRIC-ACID CYCLE INTERMEDIATES IN PRIMATE LIVER WITH PHENYLACETYLGLUTAMINE
Authors: YANG DW PREVIS SF FERNANDEZ CA DUGELAY S SOLOVIEV MV HAZEY JW AGARWAL KC LEVINE WC DAVID F RINALDO P BEYLOT M BRUNENGRABER H
Citation: Dw. Yang et al., NONINVASIVE PROBING OF CITRIC-ACID CYCLE INTERMEDIATES IN PRIMATE LIVER WITH PHENYLACETYLGLUTAMINE, American journal of physiology: endocrinology and metabolism, 33(5), 1996, pp. 882-889
FITTING IN THE POOR AT A PRICE
Authors: RINALDO P
Citation: P. Rinaldo, FITTING IN THE POOR AT A PRICE, Technology review, 99(2), 1996, pp. 10-10
ETHYLMALONIC ACIDURIA IS ASSOCIATED WITH AN AMINO-ACID VARIANT OF SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE
Authors: CORYDON MJ GREGERSEN N LEHNERT W RIBES A RINALDO P KMOCH S CHRISTENSEN E KRISTENSEN TJ ANDRESEN BS BROSS P WINTER V MARTINEZ G NEVE S JENSEN TG BOLUND L KOLVRAA S
Citation: Mj. Corydon et al., ETHYLMALONIC ACIDURIA IS ASSOCIATED WITH AN AMINO-ACID VARIANT OF SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE, Pediatric research, 39(6), 1996, pp. 1059-1066
MITOCHONDRIAL SHORT-CHAIN L-3-HYDROXYACYL-COENZYME A DEHYDROGENASE-DEFICIENCY - A NEW DEFECT OF FATTY-ACID OXIDATION
Authors: BENNETT MJ WEINBERGER MJ KOBORI JA RINALDO P BURLINA AB
Citation: Mj. Bennett et al., MITOCHONDRIAL SHORT-CHAIN L-3-HYDROXYACYL-COENZYME A DEHYDROGENASE-DEFICIENCY - A NEW DEFECT OF FATTY-ACID OXIDATION, Pediatric research, 39(1), 1996, pp. 185-188
ISOVALERIC ACIDEMIA - RESPONSE TO A LEUCINE LOAD AFTER 3 WEEKS OF SUPPLEMENTATION WITH GLYCINE, L-CARNITINE, AND COMBINED GLYCINE-CARNITINETHERAPY
Authors: FRIES MH RINALDO P SCHMIDTSOMMERFELD E JURECKI E PACKMAN S
Citation: Mh. Fries et al., ISOVALERIC ACIDEMIA - RESPONSE TO A LEUCINE LOAD AFTER 3 WEEKS OF SUPPLEMENTATION WITH GLYCINE, L-CARNITINE, AND COMBINED GLYCINE-CARNITINETHERAPY, The Journal of pediatrics, 129(3), 1996, pp. 449-452
MOLECULAR CHARACTERIZATION OF MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY - FORMATION OF THE ENZYME COMPLEX IS IMPORTANT FOR STABILIZATION OF BOTH ALPHA-SUBUNIT AND BETA-SUBUNIT
Authors: USHIKUBO S AOYAMA T KAMIJO T WANDERS RJA RINALDO P VOCKLEY J HASHIMOTO T
Citation: S. Ushikubo et al., MOLECULAR CHARACTERIZATION OF MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY - FORMATION OF THE ENZYME COMPLEX IS IMPORTANT FOR STABILIZATION OF BOTH ALPHA-SUBUNIT AND BETA-SUBUNIT, American journal of human genetics, 58(5), 1996, pp. 979-988
ACUTE FATTY LIVER OF PREGNANCY, HEMOLYSIS, ELEVATED LIVER-ENZYMES, AND LOW PLATELETS SYNDROME, AND LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY
Authors: TREEM WR SHOUP ME HALE DE BENNETT MJ RINALDO P MILLINGTON DS STANLEY CA RIELY CA HYAMS JS
Citation: Wr. Treem et al., ACUTE FATTY LIVER OF PREGNANCY, HEMOLYSIS, ELEVATED LIVER-ENZYMES, AND LOW PLATELETS SYNDROME, AND LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY, The American journal of gastroenterology, 91(11), 1996, pp. 2293-2300
CLINICAL AND BIOCHEMICAL-CHARACTERIZATION OF SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY
Authors: BHALA A WILLI SM RINALDO P BENNETT MJ SCHMIDTSOMMERFELD E HALE DE
Citation: A. Bhala et al., CLINICAL AND BIOCHEMICAL-CHARACTERIZATION OF SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY, The Journal of pediatrics, 126(6), 1995, pp. 910-915
2 ALPHA-SUBUNIT DONOR SPLICE-SITE MUTATIONS CAUSE HUMAN TRIFUNCTIONALPROTEIN-DEFICIENCY
Authors: BRACKETT JC SIMS HF RINALDO P SHAPIRO S POWELL CK BENNETT MJ STRAUSS AW
Citation: Jc. Brackett et al., 2 ALPHA-SUBUNIT DONOR SPLICE-SITE MUTATIONS CAUSE HUMAN TRIFUNCTIONALPROTEIN-DEFICIENCY, The Journal of clinical investigation, 95(5), 1995, pp. 2076-2082
INBORN-ERRORS OF METABOLISM DIAGNOSED IN SUDDEN-DEATH CASES BY ACYLCARNITINE ANALYSIS OF POSTMORTEM BILE
Authors: RASHED MS OZAND PT BENNETT MJ BARNARD JJ GOVINDARAJU DR RINALDO P
Citation: Ms. Rashed et al., INBORN-ERRORS OF METABOLISM DIAGNOSED IN SUDDEN-DEATH CASES BY ACYLCARNITINE ANALYSIS OF POSTMORTEM BILE, Clinical chemistry, 41(8), 1995, pp. 1109-1114
INTACT ALPHA-SUBUNIT IS REQUIRED FOR MEMBRANE-BINDING OF HUMAN MITOCHONDRIAL TRIFUNCTIONAL BETA-OXIDATION PROTEIN, BUT IS NOT NECESSARY FORCONFERRING 3-KETOACYL-COA THIOLASE ACTIVITY TO THE BETA-SUBUNIT
Authors: WEINBERGER MJ RINALDO P STRAUSS AW BENNETT MJ
Citation: Mj. Weinberger et al., INTACT ALPHA-SUBUNIT IS REQUIRED FOR MEMBRANE-BINDING OF HUMAN MITOCHONDRIAL TRIFUNCTIONAL BETA-OXIDATION PROTEIN, BUT IS NOT NECESSARY FORCONFERRING 3-KETOACYL-COA THIOLASE ACTIVITY TO THE BETA-SUBUNIT, Biochemical and biophysical research communications, 209(1), 1995, pp. 47-52
EFFECT OF HALOTHANE ON CARNITINE AND GLYCINE CONJUGATION AND OMEGA-OXIDATION IN THE NEONATAL PIG
Authors: PENN D BOBROWSKI P ZHANG L SCHMIDTSOMMERFELD E RINALDO P
Citation: D. Penn et al., EFFECT OF HALOTHANE ON CARNITINE AND GLYCINE CONJUGATION AND OMEGA-OXIDATION IN THE NEONATAL PIG, The FASEB journal, 8(4), 1994, pp. 10000544-10000544
Risultati: 1-25 | 26-42