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La ricerca find articoli where soggetti phrase all words 'LIPID MYOPATHY' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 28 riferimenti
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    1. Tung, YC; Tsau, YK; Chu, LW; Young, C; Shen, YZ
      Lipid myopathy associated with renal tubular acidosis and spastic diplegiain two brothers

      JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
    2. Abdenur, JE; Chamoles, NA; Schenone, AB; Jorge, L; Guinle, A; Bernard, C; Levandovskiy, V; Fusta, M; Lavorgna, S
      Multiple acyl-CoA-dehydrogenase deficiency (MADD): Use of acylcarnitines and fatty acids to monitor the response to dietary treatment

      PEDIATRIC RESEARCH
    3. Ozand, PT
      Hypoglycemia in association with various organic and amino acid disorders

      SEMINARS IN PERINATOLOGY
    4. Tamai, I; Ohashi, R; Nezu, J; Sai, Y; Kobayashi, D; Oku, A; Shimane, M; Tsuji, A
      Molecular and functional characterization of organic cation/carnitine transporter family in mice

      JOURNAL OF BIOLOGICAL CHEMISTRY
    5. Vergani, L; Angelini, C
      Infantile lipid storage myopathy with nocturnal hypoventilation shows abnormal low-affinity muscle carnitine uptake in vitro

      NEUROMUSCULAR DISORDERS
    6. Vladutiu, GD
      Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency

      MUSCLE & NERVE
    7. KERNER J; HOPPEL C
      GENETIC-DISORDERS OF CARNITINE METABOLISM AND THEIR NUTRITIONAL MANAGEMENT

      Annual review of nutrition
    8. DILIBERTI JH
      INHERITED MACROCEPHALY-HAMARTOMA SYNDROMES

      American journal of medical genetics
    9. GRANDJEAN D; FUKS V
      PHYSIOPATHOLOGICAL INTERESTS OF L-CARNITI NE IN DOG

      Recueil de medecine veterinaire
    10. KAIDO M; FUJIMURA H; ONO A; TOYOOKA K; YOSHIKAWA H; NISHIMURA T; OZAKI K; NARAMA I; KUWAJIMA M
      MITOCHONDRIAL ABNORMALITIES IN A MARINE MODEL OF PRIMARY CARNITINE DEFICIENCY - SYSTEMIC PATHOLOGY AND TRIAL OF REPLACEMENT THERAPY

      European neurology
    11. VERGANI L; ANGELINI C; PEGORARO E; CADALDINI M; SIMIONI P; GIROLAMI A; TURNBULL DM
      HEREDITARY PROTEIN-C DEFICIENCY ASSOCIATED WITH RIBOFLAVIN-RESPONSIVELIPID STORAGE MYOPATHY

      European journal of neurology
    12. BHUIYAN J; SECCOMBE DW
      THE EFFECTS OF 3-HYDROXY-3-METHYLGLUTARYL-COA REDUCTASE INHIBITION ONTISSUE-LEVELS OF CARNITINE AND CARNITINE ACYLTRANSFERASE ACTIVITY IN THE RABBIT

      Lipids
    13. MIYAGAWA J; KUWAJIMA M; HANAFUSA T; OZAKI K; FUJIMURA H; ONO A; UENAKA R; NARAMA I; OUE T; YAMAMOTO K; KAIDOH M; NIKAIDO H; HAYAKAWA J; HORIUCHI M; SAHEKI T; MATSUZAWA Y
      MITOCHONDRIAL ABNORMALITIES OF MUSCLE-TISSUE IN MICE WITH JUVENILE VISCERAL STEATOSIS ASSOCIATED WITH SYSTEMIC CARNITINE DEFICIENCY

      Virchows Archiv
    14. TEIN I; SLOANE AE; DONNER EJ; LEHOTAY DC; MILLINGTON DS; KELLEY RI
      FATTY-ACID OXIDATION ABNORMALITIES IN CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY - PRIMARY OR SECONDARY DEFECT(S)

      Pediatric neurology
    15. PONS R; DEVIVO DC
      PRIMARY AND SECONDARY CARNITINE DEFICIENCY SYNDROMES

      Journal of child neurology
    16. HILAIRE N; SALVAYRE R; THIERS JC; BONNAFE MJ; NEGRESALVAYRE A
      THE TURNOVER OF CYTOPLASMIC TRIACYLGLYCEROLS IN HUMAN FIBROBLASTS INVOLVES 2 SEPARATE ACYL-CHAIN LENGTH-DEPENDENT DEGRADATION PATHWAYS

      The Journal of biological chemistry
    17. HSU CC; CHUANG YH; TSAI JL; JONG HJ; SHEN YY; HUANG HL; CHEN HL; LEE HC; PANG CY; WEI YH; CHEN SS
      CPEO AND CARNITINE DEFICIENCY OVERLAPPING IN MELAS SYNDROME

      Acta neurologica Scandinavica
    18. STIGSBY B; YARWORTH SM; RAHBEENI Z; DABBAGH O; MUNK CD; ABDO N; BRISMAR J; GASCON GG; OZAND PT
      NEUROPHYSIOLOGIC CORRELATES OF ORGANIC ACIDEMIAS - A SURVEY OF 107 PATIENTS

      Brain & development
    19. FRYBURG JS; PELEGANO JP; BENNETT MJ; BEBIN EM
      LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE (L-CHAD) DEFICIENCYIN A PATIENT WITH THE BANNAYAN-RILEY-RUVALCABA-SYNDROME

      American journal of medical genetics
    20. ANTOZZI C; GARAVAGLIA B; MORA M; RIMOLDI M; MORANDI L; URSINO E; DIDONATO S
      LATE-ONSET RIBOFLAVIN-RESPONSIVE MYOPATHY WITH COMBINED MULTIPLE ACYL-COENZYME-A DEHYDROGENASE AND RESPIRATORY-CHAIN DEFICIENCY

      Neurology
    21. ARAKI E; KOBAYASHI T; KOHTAKE N; GOTO I; HASHIMOTO T
      A RIBOFLAVIN-RESPONSIVE LIPID STORAGE MYOPATHY DUE TO MULTIPLE ACYL-COA DEHYDROGENASE-DEFICIENCY - AN ADULT CASE

      Journal of the neurological sciences
    22. ARAKI E; KOBAYASHI T; KOHTAKE N; GOTO I; HASHIMOTO T
      A RIBOFLAVIN-RESPONSIVE LIPID STORAGE MYOPATHY DUE TO MULTIPLE ACYL-COA DEHYDROGENASE-DEFICIENCY - AN ADULT CASE

      Journal of the neurological sciences
    23. LOPASCHUK GD; BELKE DD; GAMBLE J; ITOI T; SCHONEKESS BO
      REGULATION OF FATTY-ACID OXIDATION IN THE MAMMALIAN HEART IN HEALTH AND DISEASE

      Biochimica et biophysica acta, L. Lipids and lipid metabolism
    24. BARTLETT K
      METHODS FOR THE INVESTIGATION OF HYPOGLYCEMIA WITH PARTICULAR REFERENCE TO INHERITED DISORDERS OF MITOCHONDRIAL BETA-OXIDATION

      Bailliere's clinical endocrinology and metabolism
    25. DEVIVO DC
      THE EXPANDING CLINICAL SPECTRUM OF MITOCHONDRIAL DISEASES

      Brain & development
    26. NEGRESALVAYRE A; DAGAN A; GATT S; SALVAYRE R
      USE OF PYRENEMETHYL LAURATE FOR FLUORESCENCE-BASED DETERMINATION OF LIPASE ACTIVITY IN INTACT LIVING LYMPHOBLASTOID-CELLS AND FOR THE DIAGNOSIS OF ACID LIPASE DEFICIENCY

      Biochemical journal
    27. HILAIRE N; NEGRESALVAYRE A; SALVAYRE R
      CYTOPLASMIC TRIACYLGLYCEROLS AND CHOLESTERYL ESTERS ARE DEGRADED IN 2SEPARATE CATABOLIC POOLS IN CULTURED HUMAN FIBROBLASTS

      FEBS letters
    28. KASURINEN J; SOMERHARJU P
      METABOLISM OF PYRENYL FATTY-ACIDS IN BABY HAMSTER-KIDNEY FIBROBLASTS - EFFECT OF THE ACYL CHAIN-LENGTH

      The Journal of biological chemistry


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/10/20 alle ore 04:15:08