Catalogo Articoli (Spogli Riviste)

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La ricerca find articoli where soggetti phrase all words 'ACID MALTASE DEFICIENCY' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 45 riferimenti
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    1. Saftig, P; Tanaka, Y; Lullmann-Rauch, R; von Figura, K
      Disease model: LAMP-2 enlightens Danon disease

      TRENDS IN MOLECULAR MEDICINE
    2. Bornemann, A; Goebel, HH
      Congenital myopathies

      BRAIN PATHOLOGY
    3. Martini, C; Ciana, G; Benettoni, A; Katouzian, F; Severini, GM; Bussani, R; Bembi, B
      Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2

      NEUROLOGY
    4. Tsujino, S; Huei, M; Kanazawa, N; Sugie, H; Goto, Y; Kawai, M; Nonaka, I; Hirschhorn, R; Sakuragawa, N
      Frequent mutations in Japanese patients with acid maltase deficiency

      NEUROMUSCULAR DISORDERS
    5. Ausems, MGEM; ten Berg, K; Beemer, FA; Wokke, JHJ
      Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families

      NEUROMUSCULAR DISORDERS
    6. Darras, BT; Friedman, NR
      Metabolic myopathies: A clinical approach; Part II

      PEDIATRIC NEUROLOGY
    7. Nardin, RA; Drislane, FW
      Neurologic causes of acute respiratory dysfunction

      JOURNAL OF INTENSIVE CARE MEDICINE
    8. Boonyapisit, K; Katirji, B
      Multifocal motor neuropathy presenting with respiratory failure

      MUSCLE & NERVE
    9. Miro, O; Laguno, M; Masanes, F; Perea, M; Urbano-Marquez, A; Grau, JM
      Congenital and metabolic myopathies of childhood or adult onset

      SEMINARS IN ARTHRITIS AND RHEUMATISM
    10. Bodamer, OAF; Halliday, D; Leonard, JV
      The effects of L-alanine supplementation in late-onset glycogen storage disease type II

      NEUROLOGY
    11. Elpeleg, ON
      The molecular background of glycogen metabolism disorders

      JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
    12. Lomen-Hoerth, C; Simmons, ML; DeArmond, SJ; Layzer, RB
      Adult-onset nemaline myopathy: Another cause of dropped head

      MUSCLE & NERVE
    13. Ausems, MGEM; Lochman, P; van Diggelen, OP; van Amstel, HKP; Reuser, AJJ; Wokke, JHJ
      A diagnostic protocol for adult-onset glycogen storage disease type II

      NEUROLOGY
    14. Bijvoet, AGA; van Hirtum, H; Vermey, M; van Leenen, D; van der Ploeg, AT; Mooi, WJ; Reuser, AJJ
      Pathological features of glycogen storage disease type II highlighted in the knockout mouse model

      JOURNAL OF PATHOLOGY
    15. Hirschhorn, R; Huie, ML
      Frequency of mutations for glycogen storage disease type II in different populations: the Delta 525T and Delta exon 18 mutations are not generally "common" in white populations

      JOURNAL OF MEDICAL GENETICS
    16. MARTINI L; FABRI S; MANFREDI M; FRANCIA A
      ASSOCIATION BETWEEN TYPE-II ADULT GLYCOGENOSIS INFLAMMATORY POLYNEUROPATHY AND HYPOPHYSEAL ADENOMA - A CASE-REPORT

      European journal of neurology
    17. ZOCHODNE D
      MYOPATHIES IN THE INTENSIVE-CARE UNIT

      Canadian journal of neurological sciences
    18. DEJAGER AEJ; VANDERVLIET TM; VANDERREE TC; OOSTERINK BJ; LOONEN MCB
      MUSCLE COMPUTED-TOMOGRAPHY IN ADULT-ONSET ACID MALTASE DEFICIENCY

      Muscle & nerve
    19. JONES HR; DELAMONTE SM; NARULA N; HEDLEYWHYTE ET; SANDROCK AW; MARK EJ; SEMIGRAN MJ
      A 22-YEAR-OLD MAN WITH A CARDIAC TRANSPLANT AND CREATINE-KINASE ELEVATION - BECKERS-MUSCULAR-DYSTROPHY INVOLVING SKELETAL-MUSCLE AND MYOCARDIUM

      The New England journal of medicine
    20. SANDER HW; MENKES OL; HOOD DC; WILLIAMS DA
      A 80-YEAR-OLD WOMAN WITH WEAKNESS, FATIGUE, AND ACUTE RESPIRATORY-FAILURE - CASE-REPORT AND DISCUSSION OF THE DIFFERENTIAL-DIAGNOSIS

      Military medicine
    21. KURZ D; AGUZZI A; SCHERER TA
      DECOMPENSATED COR-PULMONALE AS THE FIRST MANIFESTATION OF ADULT-ONSETMYOPATHY

      Respiration
    22. KIKUCHI T; YANG HW; PENNYBACKER M; ICHIHARA N; MIZUTANI M; VANHOVE JLK; CHEN YT
      CLINICAL AND METABOLIC CORRECTION OF POMPE-DISEASE BY ENZYME THERAPY IN ACID MALTASE-DEFICIENT QUAIL

      The Journal of clinical investigation
    23. KROOS MA; VANLEENEN D; VERBIEST J; REUSER AJJ; HERMANS MMP
      GLYCOGEN-STORAGE-DISEASE TYPE-II - IDENTIFICATION OF A DINUCLEOTIDE DELETION AND A COMMON MISSENSE MUTATION IN THE LYSOSOMAL ALPHA-GLUCOSIDASE GENE

      Clinical genetics
    24. KROOS MA; VANDERKRAAN M; VANDIGGELEN OP; KLEIJER WJ; REUSER AJJ
      2 EXTREMES OF THE CLINICAL SPECTRUM OF GLYCOGEN-STORAGE-DISEASE TYPE-II IN ONE FAMILY - A MATTER OF GENOTYPE

      Human mutation
    25. ADAMS EM; BECKER JA; GRIFFITH L; SEGAL A; PLOTZ PH; RABEN N
      GLYCOGENOSIS TYPE-II - A JUVENILE-SPECIFIC MUTATION WITH AN UNUSUAL SPLICING PATTERN AND A SHARED MUTATION IN AFRICAN-AMERICANS

      Human mutation
    26. KUNITA R; NAKABAYASHI O; WU JY; HAGIWARA Y; MIZUTANI M; PENNYBACKER M; CHEN YT; KIKUCHI T
      MOLECULAR-CLONING OF ACID ALPHA-GLUCOSIDASE CDNA OF JAPANESE-QUAIL (COTURNIX-COTURNIX-JAPONICA) AND THE LACK OF ITS MESSENGER-RNA IN ACID MALTASE DEFICIENT QUAILS

      Biochimica et biophysica acta. Molecular basis of disease
    27. BODAMER OAF; LEONARD JV; HALLIDAY D
      DIETARY-TREATMENT IN LATE-ONSET ACID MALTASE DEFICIENCY

      European journal of pediatrics
    28. ZOCHODNE DW; BOLTON CF
      NEUROMUSCULAR DISORDERS IN CRITICAL ILLNESS

      Bailliere's clinical neurology
    29. PFEIFFER G; WINKLER G; NEUNZIG P; WOLF W; THAYSSEN G; KUNZE K
      LONG-TERM MANAGEMENT OF ACUTE RESPIRATORY-FAILURE IN METABOLIC MYOPATHY

      Intensive care medicine
    30. SUAREZ J; COHEN M; KAMINSKI HJ
      CONGENITAL NEUROMUSCULAR DISEASES PRESENTING IN ADULTHOOD

      Seminars in neurology
    31. BRAGA IS; ODA K; KIKUCHI T; TANAKA S; SHIN Y; SENTO M; ITAKURA C; MIZUTANI M
      NEW INHERITED MUSCULAR DISORDER IN JAPANESE-QUAILS (COTURNIX-COTURNIX-JAPONICA)

      Veterinary pathology
    32. HERMANS MMP; DEGRAAFF E; KROOS MA; MOHKAMSING S; EUSSEN BJ; JOOSSE M; WILLEMSEN R; KLEIJER WJ; OOSTRA BA; REUSER AJJ
      THE EFFECT OF A SINGLE-BASE PAIR DELETION (DELTA-T525) AND A C1634T MISSENSE MUTATION (PRO545LEU) ON THE EXPRESSION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II

      Human molecular genetics
    33. DWORZAK F; CASAZZA F; MORA M; DEMARIA R; GRONDA E; BAROLDI G; RIMOLDI M; MORANDI L; CORNELIO F
      LYSOSOMAL GLYCOGEN-STORAGE WITH NORMAL ACID MALTASE - A FAMILIAL STUDY WITH SUCCESSFUL HEART-TRANSPLANT

      Neuromuscular disorders
    34. MEOLA G; SANSONE V; ROTONDO G; RADICE S; STERLICCHIO M; MAURI M; BRESOLIN N; MOGGIO M
      NEURAL REGULATION OF ACID MALTASE IN AN UNUSUAL ADULT-ONSET DEFICIENCY

      Clinical neuropathology
    35. JOHNSON DC; KAZEMI H
      CENTRAL CONTROL OF VENTILATION IN NEUROMUSCULAR DISEASE

      Clinics in chest medicine
    36. LYNN DJ; WODA RP; MENDELL JR
      RESPIRATORY DYSFUNCTION IN MUSCULAR-DYSTROPHY AND OTHER MYOPATHIES

      Clinics in chest medicine
    37. RUSSELL SH; HIRSCH NP
      ANESTHESIA AND MYOTONIA

      British Journal of Anaesthesia
    38. DIFIORE MT; MANFREDI R; MARRI L; ZUCCHINI A; AZZAROLI L; MANFREDI G
      ELEVATION OF TRANSAMINASES AS AN EARLY SIGN OF LATE-ONSET GLYCOGENOSIS TYPE-II

      European journal of pediatrics
    39. PARKER PH; BALLEW M; GREENE HL
      NUTRITIONAL MANAGEMENT OF GLYCOGEN-STORAGE-DISEASE

      Annual review of nutrition
    40. WILLEMSEN R; VANDERPLOEG AT; BUSCH HFM; ZONDERVAN PE; VANNOORDEN CJF; REUSER AJJ
      SYNTHESIS AND IN-SITU LOCALIZATION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN MUSCLE OF AN UNUSUAL VARIANT OF GLYCOGEN-STORAGE-DISEASE TYPE-II

      Ultrastructural pathology
    41. BAROHN RJ; MCVEY AL; DIMAURO S
      ADULT ACID MALTASE DEFICIENCY

      Muscle & nerve
    42. REICHMANN H
      TREATMENT OF METABOLIC MYOPATHIES

      Nervenarzt
    43. REICHMANN KG; TWIST JO; THISTLETHWAITE EJ
      CLINICAL, DIAGNOSTIC AND BIOCHEMICAL FEATURES OF GENERALIZED GLYCOGENOSIS TYPE-II IN BRAHMAN CATTLE

      Australian Veterinary Journal
    44. DEBLEECKER JL; ENGEL AG; WINKELMANN JC
      LOCALIZATION OF DYSTROPHIN AND BETA-SPECTRIN IN VACUOLAR MYOPATHIES

      The American journal of pathology
    45. UCHINO M; UYAMA E; HIRANO T; NAKAMURA T; FUKUSHIMA T; ANDO M
      A HISTOCHEMICAL AND ELECTRON-MICROSCOPIC STUDY OF SKELETAL-MUSCLE IN AN ADULT CASE OF CHEDIAK-HIGASHI-SYNDROME

      Acta Neuropathologica


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 11/08/20 alle ore 19:13:38