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La ricerca find articoli where soggetti phrase all words 'TRIFUNCTIONAL PROTEIN' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 54 riferimenti
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    1. Gregersen, N; Andresen, BS; Corydon, M; Corydon, TJ; Olsen, RKJ; Bolund, L; Bross, P
      Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

      HUMAN MUTATION
    2. Eaton, S; Fukumoto, K; Duran, NP; Pierro, A; Spitz, L; Quant, PA; Bartlett, K
      Carnitine palmitoyl transferase I and the control of myocardial beta-oxidation flux

      BIOCHEMICAL SOCIETY TRANSACTIONS
    3. Rorison, KA; Lee, DJ; Baldwin, GS
      Mutation of lysine residues of the 78-kDa gastrin-binding protein reduces gastrin binding

      JOURNAL OF PROTEIN CHEMISTRY
    4. Miyajima, H; Ouchi, Y; Sakamoto, M; Takahashi, Y; Kono, S; Suzuki, H
      Increased anaerobic glycolysis in mitochondrial trifunctional protein-deficient brain

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    5. Baldwin, GS
      Inhibition of the preferential binding of actin to the N-terminal hydratase domain of the 78-kDa gastrin-binding protein by nonsteroidal anti-inflammatory drugs and gastrin receptor antagonists

      BIOCHEMICAL PHARMACOLOGY
    6. Ibdah, JA; Yang, Z; Bennett, MJ
      Liver disease in pregnancy and fetal fatty acid oxidation defects

      MOLECULAR GENETICS AND METABOLISM
    7. Watanabe, H; Orii, KE; Fukao, T; Song, XQ; Aoyama, T; Ijlst, L; Ruiter, J; Wanders, RJA; Kondo, N
      Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: Identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping

      HUMAN MUTATION
    8. Bennett, MJ; Rinaldo, P; Strauss, AW
      Inborn errors of mitochondrial fatty acid oxidation

      CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES
    9. Guertl, B; Noehammer, C; Hoefler, G
      Metabolic cardiomyopathies

      INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY
    10. Vladutiu, GD
      The molecular diagnosis of metabolic myopathies

      NEUROLOGIC CLINICS
    11. Van Maldergem, L; Tuerlinckx, D; Wanders, RJ; Vianey-Saban, C; Van Hoof, F; Martin, JJ; Fourneau, C; Gillerot, Y; Bachy, A
      Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings

      EUROPEAN JOURNAL OF PEDIATRICS
    12. Baldwin, GS
      Do NSAIDs contribute to acute fatty liver of pregnancy?

      MEDICAL HYPOTHESES
    13. Shen, JJ; Matern, D; Millington, DS; Hillman, S; Feezor, MD; Bennett, MJ; Qumsiyeh, M; Kahler, SG; Chen, YT; Van Hove, JLK
      Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders

      JOURNAL OF INHERITED METABOLIC DISEASE
    14. Tein, I
      Metabolic disease in the fetus predisposes to maternal hepatic complications of pregnancy

      PEDIATRIC RESEARCH
    15. Innes, AM; Seargeant, LE; Balachandra, K; Roe, CR; Wanders, RJA; Ruiter, JPN; Casiro, O; Grewar, DA; Greenberg, CR
      Hepatic carnitine palmitoyltransferase I deficiency presenting as maternalillness in pregnancy

      PEDIATRIC RESEARCH
    16. Roschinger, W; Muntau, AC; Duran, M; Dorland, L; IJlst, L; Wanders, RJA; Roscher, AA
      Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle

      CLINICA CHIMICA ACTA
    17. Bennett, MJ; Spotswood, SD; Ross, KF; Comfort, S; Koonce, R; Boriack, RL; IJlst, L; Wanders, RJA
      Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: Clinical, biochemical, and pathological studies on three subjects withthis recently identified disorder of mitochondrial beta-oxidation

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    18. Glasgow, JFT; Middleton, B; Moore, R; Gray, A; Hill, J
      The mechanism of inhibition of beta-oxidation by aspirin metabolites in skin fibroblasts from Reye's syndrome patients and controls

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    19. Lteif, AN; Schwenk, WF
      Hypoglycemia in infants and children

      ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
    20. Tyni, T; Pihko, H
      Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

      ACTA PAEDIATRICA
    21. Rorison, KA; Neumann, GM; Baldwin, GS
      Binding of pepsinogen to the 78 kDa gastrin binding protein

      BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
    22. Baldwin, GS; Rorison, KA
      Structural requirements for the binding of non-steroidal anti-inflammatorydrugs to the 78 kDa gastrin binding protein

      BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
    23. Strauss, AW; Bennett, MJ; Rinaldo, P; Sims, HF; O'Brien, LK; Zhao, YW; Gibson, B; Ibdah, J
      Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications

      SEMINARS IN PERINATOLOGY
    24. Ibdah, JA; Dasouki, MJ; Strauss, AW
      Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia

      JOURNAL OF INHERITED METABOLIC DISEASE
    25. Wanders, RJA; Vreken, P; den Boer, MEJ; Wijburg, FA; van Gennip, AH; IJlst, L
      Disorders of mitochondrial fatty acyl-CoA beta-oxidation

      JOURNAL OF INHERITED METABOLIC DISEASE
    26. Saudubray, JM; Martin, D; de Lonlay, P; Touati, G; Poggi-Travert, F; Bonnet, D; Jouvet, P; Boutron, M; Slama, A; Vianey-Saban, C; Bonnefont, JP; Rabier, D; Kamoun, P; Brivet, M
      Recognition and management of fatty acid oxidation defects: A series of 107 patients

      JOURNAL OF INHERITED METABOLIC DISEASE
    27. Ibdah, JA; Bennett, MJ; Rinaldo, P; Zhao, YW; Gibson, B; Sims, HF; Strauss, AW
      A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women

      NEW ENGLAND JOURNAL OF MEDICINE
    28. MORRIS AAM; TURNBULL DM
      FATTY-ACID OXIDATION DEFECTS IN MUSCLE

      Current opinion in neurology
    29. TYNI T; PIHKO H; KIVELA T
      OPHTHALMIC PATHOLOGY IN LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY CAUSED BY THE G1528C MUTATION

      Current eye research
    30. Eaton, S; Middleton, B; Bartlett, K
      Control of mitochondrial beta-oxidation: sensitivity of the trifunctional protein to [NAD(+)]/[NADH] and [acetyl-CoA]/[CoA]

      BIOCHIMICA ET BIOPHYSICA ACTA-PROTEIN STRUCTURE AND MOLECULAR ENZYMOLOGY
    31. TYNI T; KIVELA T; LAPPI M; SUMMANEN P; NIKOSKELAINEN E; PIHKO H
      OPHTHALMOLOGIC FINDINGS IN LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY CAUSED BY THE G1528C MUTATION - A NEW-TYPE OF HEREDITARY METABOLIC CHORIORETINOPATHY

      Ophthalmology
    32. TYNI T; EKHOLM E; PIHKO H
      PREGNANCY COMPLICATIONS ARE FREQUENT IN LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY

      American journal of obstetrics and gynecology
    33. TYNI T; RAPOLA J; PAETAU A; PALOTIE A; PIHKO H
      PATHOLOGY OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY CAUSED BY THE G1528C MUTATION

      PEDIATRIC PATHOLOGY & LABORATORY MEDICINE
    34. ORII T
      MOLECULAR-BASIS OF ZELLWEGER-SYNDROME, BETA-KETOTHIOLASE DEFICIENCY AND MUCOPOLYSACCHARIDOSES

      Japanese journal of human genetics
    35. AOYAMA T; WAKUI K; ORII KE; HASHIMOTO T; FUKUSHIMA Y
      FLUORESCENCE IN-SITU HYBRIDIZATION MAPPING OF THE ALPHA-SUBUNIT AND BETA-SUBUNIT (HADHA AND HADHB) OF HUMAN MITOCHONDRIAL FATTY-ACID BETA-OXIDATION MULTIENZYME COMPLEX TO 2P23 AND THEIR EVOLUTION

      Cytogenetics and cell genetics
    36. IJLST L; OOSTHEIM W; RUITER JPN; WANDERS RJA
      MOLECULAR-BASIS OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY - IDENTIFICATION OF 2 NEW MUTATIONS

      Journal of inherited metabolic disease
    37. KAMIJO T; INDO Y; SOURI M; AOYAMA T; HARA T; YAMAMOTO S; USHIKUBO S; RINALDO P; MATSUDA I; KOMIYAMA A; HASHIMOTO T
      MEDIUM-CHAIN 3-KETOACYL-COENZYME A THIOLASE DEFICIENCY - A NEW DISORDER OF MITOCHONDRIAL FATTY-ACID BETA-OXIDATION

      Pediatric research
    38. TYNI T; RAPOLA J; PALOTIE A; PIHKO H
      HYPOPARATHYROIDISM IN A PATIENT WITH LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY CAUSED BY THE G1528C MUTATION

      The Journal of pediatrics
    39. TYNI T; PALOTIE A; VIINIKKA L; VALANNE L; SALO MK; VONDOBELN U; JACKSON S; WANDERS R; VENIZELOS N; PIHKO H
      LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY WITH THEG1528C MUTATION - CLINICAL PRESENTATION OF 13 PATIENTS

      The Journal of pediatrics
    40. JIANG LL; KUROSAWA T; SATO M; SUZUKI Y; HASHIMOTO T
      PHYSIOLOGICAL-ROLE OF D-3-HYDROXYACYL-COA DEHYDRATASE D-3-HYDROXYACYL-COA DEHYDROGENASE BIFUNCTIONAL PROTEIN

      Journal of Biochemistry
    41. JIANG LL; MIYAZAWA S; SOURI M; HASHIMOTO T
      STRUCTURE OF D-3-HYDROXYACYL-COA DEHYDRATASE D-3-HYDROXYACYL-COA DEHYDROGENASE BIFUNCTIONAL PROTEIN/

      Journal of Biochemistry
    42. AMIRKHAN RH; TIMMONS CF; BROWN KO; WEINBERGER MJ; BENNETT MJ
      CLINICAL, BIOCHEMICAL, AND MORPHOLOGIC INVESTIGATIONS OF A CASE OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY

      Archives of pathology and laboratory medicine
    43. MURPHY VJ; MANTAMADIOTIS T; BALDWIN GS
      GASTRIN AND GASTRIN RECEPTOR ANTAGONISTS BIND TO BOTH N-TERMINAL AND C-TERMINAL HALVES OF THE 78KDA GASTRIN-BINDING PROTEIN

      International journal of biochemistry & cell biology
    44. TARONI F; UZIEL G
      FATTY-ACID MITOCHONDRIAL BETA-OXIDATION AND HYPOGLYCEMIA IN CHILDREN

      Current opinion in neurology
    45. STRAUSS AW
      DEFECTS OF MITOCHONDRIAL PROTEINS AND PEDIATRIC HEART-DISEASE

      Progress in pediatric cardiology
    46. TYNI T; MAJANDER A; KALIMO H; RAPOLA J; PIHKO H
      PATHOLOGY OF SKELETAL-MUSCLE AND IMPAIRED RESPIRATORY-CHAIN FUNCTION IN LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY WITH THE G1528C MUTATION

      Neuromuscular disorders
    47. PONS R; ROIG M; RIUDOR E; RIBES A; BRIONES P; ORTIGOSA L; BALDELLOU A; GILGIBERNAU J; OLESTI M; NAVARRO C; WANDERS RJA
      THE CLINICAL SPECTRUM OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY

      Pediatric neurology
    48. JIANG LL; KOBAYASHI A; MATSUURA H; FUKUSHIMA H; HASHIMOTO T
      PURIFICATION AND PROPERTIES OF HUMAN D-3-HYDROXYACYL-COA DEHYDRATASE - MEDIUM-CHAIN ENOYL-COA HYDRATASE IS D-3-HYDROXYACYL-COA DEHYDRATASE

      Journal of Biochemistry
    49. JIANG LL; MIYAZAWA S; HASHIMOTO T
      PURIFICATION AND PROPERTIES OF RAT D-3-HYDROXYACYL-COA DEHYDRATASE - D-3-HYDROXYACYL-COA DEHYDRATASE D-3-HYDROXYACYL-COA DEHYDROGENASE BIFUNCTIONAL PROTEIN

      Journal of Biochemistry
    50. BALDWIN GS; ABBOTT FS; NAU H
      BINDING OF A VALPROATE METABOLITE TO THE TRIFUNCTIONAL PROTEIN OF FATTY-ACID OXIDATION

      FEBS letters
    51. FUKAO T; YAMAGUCHI S; ORII T; HASHIMOTO T
      MOLECULAR-BASIS OF BETA-KETOTHIOLASE DEFICIENCY - MUTATIONS AND POLYMORPHISMS IN THE HUMAN MITOCHONDRIAL ACETOACETYL-COENZYME-A THIOLASE GENE

      Human mutation
    52. POLLITT RJ
      DISORDERS OF MITOCHONDRIAL LONG-CHAIN FATTY-ACID OXIDATION

      Journal of inherited metabolic disease
    53. VENIZELOS N; IJLST L; WANDERS RJA; HAGENFELDT L
      BETA-OXIDATION ENZYMES IN FIBROBLASTS FROM PATIENTS WITH 3-HYDROXYDICARBOXYLIC ACIDURIA

      Pediatric research
    54. SONG XQ; FUKAO T; YAMAGUCHI S; MIYAZAWA S; HASHIMOTO T; ORII T
      MOLECULAR-CLONING AND NUCLEOTIDE-SEQUENCE OF COMPLEMENTARY-DNA FOR HUMAN HEPATIC CYTOSOLIC ACETOACETYL-COENZYME-A THIOLASE

      Biochemical and biophysical research communications


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Documento generato il 10/08/20 alle ore 18:17:48