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La ricerca find articoli where authors phrase all words ' Boriack, RL' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 11 riferimenti
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    1. Bennett, MJ; Harthcock, PA; Boriack, RL; Cohen, JC
      Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with malonyl-CoA decarboxylase deficiency

      MOLECULAR GENETICS AND METABOLISM
    2. Jones, PM; Moffitt, M; Joseph, D; Harthcock, PA; Boriack, RL; Ibdah, JA; Strauss, AW; Bennett, MJ
      Accumulation of free 3-hydroxy fatty acids in the culture media of fibroblasts from patients deficient in long-chain L-3-hydroxyacyl-CoA dehydrogenase: A useful diagnostic aid

      CLINICAL CHEMISTRY
    3. Treacy, EP; Lambert, DM; Barnes, R; Boriack, RL; Vockley, J; O'Brien, LK; Jones, PM; Bennett, MJ
      Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study

      JOURNAL OF PEDIATRICS
    4. Jones, PM; Quinn, R; Fennessey, PV; Tjoa, S; Goodman, SI; Fiore, S; Burlina, AB; Rinaldo, P; Boriack, RL; Bennett, MJ
      Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation

      CLINICAL CHEMISTRY
    5. Margraf, LR; Boriack, RL; Routheut, AAJ; Cuppen, I; Alhilali, L; Bennett, CJ; Bennett, MJ
      Tissue expression and subcellular localization of CLN3, the Batten diseaseprotein

      MOLECULAR GENETICS AND METABOLISM
    6. 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
    7. Otto, LR; Boriack, RL; Marsh, DJ; Kum, JB; Eng, C; Burlina, AB; Bennett, MJ
      Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (ERRS)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. BENNETT MJ; BORIACK RL; BIRCH DG
      IN-UTERO AND POSTDELIVERY SUPPLEMENTATION OF MOTOR-NEURON DEGENERATION MUTANT MICE WITH POLYUNSATURATED FATTY-ACIDS DOES NOT ALTER THE CLINICAL OR PATHOLOGICAL COURSE

      Neuropediatrics
    9. BENNETT MJ; BORIACK RL; BOUSTANY RM
      POLYUNSATURATED FATTY-ACIDS REVERSE THE LYSOSOMAL STORAGE AND ACCUMULATION OF SUBUNIT-9 OF MITOCHONDRIAL F1F0-ATP SYNTHASE IN CULTURED LYMPHOBLASTS FROM PATIENTS WITH BATTEN-DISEASE

      Journal of inherited metabolic disease
    10. BORIACK RL; CORTINAS E; BENNETT MJ
      MITOCHONDRIAL DAMAGE RESULTS IN A REVERSIBLE INCREASE IN LYSOSOMAL STORAGE MATERIAL IN LYMPHOBLASTS FROM PATIENTS WITH JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS (BATTEN-DISEASE)

      American journal of medical genetics
    11. BENNETT MJ; BORIACK RL
      ERYTHROCYTE-MEMBRANE REACYLATION IN JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS - MEASUREMENT OF MEMBRANE-BOUND CARNITINE PALMITOYL TRANSFERASE, ACYL-COA SYNTHETASE, AND LYSOPHOSPHOLIPID - ACYL-COA ACYLTRANSFERASEACTIVITIES

      American journal of medical genetics


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Documento generato il 24/10/20 alle ore 20:05:08