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La ricerca find articoli where soggetti phrase all words 'CARNITINE PALMITOYLTRANSFERASE-II' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 31 riferimenti
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    1. Vladutiu, GD
      Heterozygosity: An expanding role in proteomics

      MOLECULAR GENETICS AND METABOLISM
    2. 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
    3. Hoppel, C; Kerner, J; Turkaly, P; Tandler, B
      Rat liver mitochondrial contact sites and carnitine palmitoyltransferase-I

      ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
    4. Bennett, MJ; Rinaldo, P; Strauss, AW
      Inborn errors of mitochondrial fatty acid oxidation

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

      INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY
    6. Darras, BT; Friedman, NR
      Metabolic myopathies: A clinical approach; Part II

      PEDIATRIC NEUROLOGY
    7. Bruno, C; Bado, M; Minetti, C; Cordone, G; DiMauro, S
      Novel mutation in the CPT II gene in a child with periodic febrile myalgiaand myoglobinuria

      JOURNAL OF CHILD NEUROLOGY
    8. Cwik, VA
      Disorders of lipid metabolism in skeletal muscle

      NEUROLOGIC CLINICS
    9. Lteif, AN; Schwenk, WF
      Hypoglycemia in infants and children

      ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
    10. Towbin, JA; Lipshultz, SE
      Genetics of neonatal cardiomyopathy

      CURRENT OPINION IN CARDIOLOGY
    11. Martin, MA; Rubio, JC; De Bustos, F; Del Hoyo, P; Campos, Y; Garcia, A; Bornstein, B; Cabello, A; Arenas, J
      Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency

      MUSCLE & NERVE
    12. Tein, I
      Neonatal metabolic myopathies

      SEMINARS IN PERINATOLOGY
    13. Brivet, M; Boutron, A; Slama, A; Costa, C; Thuillier, L; Demaugre, F; Rabier, D; Saudubray, JM; Bonnefont, JP
      Defects in activation and transport of fatty acids

      JOURNAL OF INHERITED METABOLIC DISEASE
    14. 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
    15. YANG BZ; DING JH; DEWESE T; ROE D; HE GC; WILKINSON J; DAY DW; DEMAUGRE F; RABIER D; BRIVET M; ROE C
      IDENTIFICATION OF 4 NOVEL MUTATIONS IN PATIENTS WITH CARNITINE PALMITOYLTRANSFERASE-II (CPT II) DEFICIENCY

      MOLECULAR GENETICS AND METABOLISM
    16. WATAYA K; AKANUMA J; CAVADINI P; AOKI Y; KURE S; INVERNIZZI F; YOSHIDA I; KIRA J; TARONI F; MATSUBARA Y; NARISAWA K
      2 CPT2 MUTATIONS IN 3 JAPANESE PATIENTS WITH CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - FUNCTIONAL-ANALYSIS AND ASSOCIATION WITH POLYMORPHIC HAPLOTYPES AND 2 CLINICAL PHENOTYPES

      Human mutation
    17. SEELAENDER MCL; CURI R; COLQUHOUN A; WILLIAMS JF; ZAMMITT VA
      CARNITINE PALMITOYLTRANSFERASE-II ACTIVITY IS DECREASED IN LIVER-MITOCHONDRIA OF CACHECTIC RATS BEARING THE WALKER-256 CARCINOSARCOMA - EFFECT OF INDOMETHACIN TREATMENT

      Biochemistry and molecular biology international
    18. BARTELDS B; GRATAMA JWC; KNOESTER H; TAKENS J; SMID GB; AARNOUDSE JG; HEYMANS HSA; KUIPERS JRG
      PERINATAL CHANGES IN MYOCARDIAL SUPPLY AND FLUX OF FATTY-ACIDS, CARBOHYDRATES, AND KETONE-BODIES IN LAMBS

      American journal of physiology. Heart and circulatory physiology
    19. TADAMURA E; KUDOH T; HATTORI N; INUBUSHI M; MAGATA Y; KONISHI J; MATSUMORI A; NOHARA R; SASAYAMA S; YOSHIBAYASHI M; TAMAKI N
      IMPAIRMENT OF BMIPP UPTAKE PRECEDES ABNORMALITIES IN OXYGEN AND GLUCOSE-METABOLISM IN HYPERTROPHIC CARDIOMYOPATHY

      The Journal of nuclear medicine
    20. FONTAINE M; BRIAND G; LARGILLIERE C; DEGAND P; DIVRY P; VIANEYSABAN C; MOUSSON B; VAMECQ J
      METABOLIC STUDIES IN A PATIENT WITH SEVERE CARNITINE PALMITOYLTRANSFERASE TYPE-II DEFICIENCY

      Clinica chimica acta
    21. RODRIGUEZ IJP; GUTIERREZRIVAS E; CABELLO A
      CARDIAC INVOLVEMENT IN NEUROMUSCULAR DISO RDERS

      Revista espanola de cardiologia
    22. INFANTE JP; HUSZAGH VA
      ON THE MOLECULAR ETIOLOGY OF DECREASED ARACHIDONIC (20 4N-6), DOCOSAPENTAENOIC (22/5N-6) AND DOCOSAHEXAENOIC (22/6N-3) ACIDS IN ZELLWEGER-SYNDROME AND OTHER PEROXISOMAL DISORDERS/

      Molecular and cellular biochemistry
    23. DIDONATO S
      CELLULAR-MODELS FOR PATHOGENESIS IN MITOCHONDRIAL DISEASES

      Current opinion in neurology
    24. TARONI F; UZIEL G
      FATTY-ACID MITOCHONDRIAL BETA-OXIDATION AND HYPOGLYCEMIA IN CHILDREN

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

      Progress in pediatric cardiology
    26. HOTTA K; KUWAJIMA M; ONO A; UENAKA R; NAKAJIMA H; MIYAGAWA J; NAMBA M; HANAFUSA T; HORIUCHI M; NIKAIDO H; HAYAKAWA J; KONO N; SAHEKI T; MATSUZAWA Y
      ALTERED EXPRESSION OF CARNITINE PALMITOYLTRANSFERASE-II IN LIVER, MUSCLE, AND HEART OF MOUSE STRAIN WITH JUVENILE VISCERAL STEATOSIS

      Biochimica et biophysica acta (G). General subjects
    27. KEATING MT; SANGUINETTI MC
      MOLECULAR-GENETIC INSIGHTS INTO CARDIOVASCULAR-DISEASE

      Science
    28. REQUERO MA; GONI FM; ALONSO A
      THE MEMBRANE-PERTURBING PROPERTIES OF PALMITOYL-COENZYME-A AND PALMITOYLCARNITINE - A COMPARATIVE-STUDY

      Biochemistry
    29. OHTANI Y; TOMODA A; MIIKE T; MATSUKURA M; MIYATAKE M; NARAZAKI O
      CENTRAL-NERVOUS-SYSTEM DISORDERS AND POSSIBLE BRAIN-TYPE CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY

      Brain & development
    30. KELLY DP; STRAUSS AW
      MECHANISMS OF DISEASE - INHERITED CARDIOMYOPATHIES

      The New England journal of medicine
    31. BENNETT MJ
      THE ENZYMES OF MITOCHONDRIAL FATTY-ACID OXIDATION

      Clinica chimica acta


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/08/20 alle ore 02:16:38