Catalogo Articoli (Spogli Riviste)

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La ricerca find articoli where soggetti phrase all words 'ADULT FORM' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 18 riferimenti
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    1. Knoff, M; de Sao Clemente, SC; Pinto, RM; Gomes, DC
      Nematodes of elasmobranch fishes from the Southern Coast of Brazil

      MEMORIAS DO INSTITUTO OSWALDO CRUZ
    2. Drousiotou, A; Stylianidou, G; Anastasiadou, V; Christopoulos, G; Mavrikiou, E; Georgiou, T; Kalakoutis, G; Oladimeji, A; Hara, Y; Suzuki, K; Furihata, K; Ueno, I; Ioannou, PA; Fensom, AH
      Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community

      HUMAN GENETICS
    3. Rentrop, M; Hakk, K; Freisleder, FJ; Kissling, W; Kockott, G
      Homicide and hebephrenia-like syndrome in metachromatic leukodystrophy

      NERVENARZT
    4. Gross, J; Blocher, D; Trott, GE; Rosler, M
      Assessment of the attention-deficit hyperactivity disorder in adults

      NERVENARZT
    5. PETROULAKIS E; CAO ZM; CLARKE JTR; MAHURAN DJ; LEE G; TRIGGSRAINE B
      W474C AMINO-ACID SUBSTITUTION AFFECTS EARLY PROCESSING OF THE ALPHA-SUBUNIT OF BETA-HEXOSAMINIDASE-A AND IS ASSOCIATED WITH SUBACUTE G(M2) GANGLIOSIDOSIS

      Human mutation
    6. MALANDRINI A; PALMERI S; FABRIZI GM; VILLANOVA M; BERTI G; SALVADORI C; GARDINI G; MOTTI L; SOLIME F; GUAZZI GC
      JUVENILE LEIGH-SYNDROME WITH PROTRACTED COURSE PRESENTING AS CHRONIC SENSORY-MOTOR NEUROPATHY, ATAXIA, DEAFNESS AND RETINITIS-PIGMENTOSA - A CLINICOPATHOLOGICAL REPORT

      Journal of the neurological sciences
    7. HARA A; UYAMA E; UCHINO M; SHIMMOTO M; UTSUMI K; ITOH K; KASE R; NAITO M; SUGIYAMA E; TAKETOMI T; SUKEGAWA K; SAKURABA H
      ADULT SANDHOFFS-DISEASE - R505Q AND I207V SUBSTITUTIONS IN THE HEXB GENE OF THE FIRST JAPANESE CASE

      Journal of the neurological sciences
    8. HOU YM; MCINNES B; HINEK A; KARPATI G; MAHURAN D
      A PRO(504)-]SER SUBSTITUTION IN THE BETA-SUBUNIT OF BETA-HEXOSAMINIDASE A INHIBITS ALPHA-SUBUNIT HYDROLYSIS OF G(M2) GANGLIOSIDE, RESULTINGIN CHRONIC SANDHOFF-DISEASE

      The Journal of biological chemistry
    9. NARKIS G; ADAM A; JABER L; PENNYBACKER M; PROIA RL; NAVON R
      MOLECULAR-BASIS OF HEAT-LABILE HEXOSAMINIDASE-B AMONG JEWS AND ARABS

      Human mutation
    10. PALM HW
      TRYPANORHYNCH CESTODES OF COMMERCIAL FISHES FROM NORTHEAST BRAZILIAN COASTAL WATERS

      Memorias do Instituto Oswaldo Cruz
    11. FERNANDES MJG; YEW S; LECLERC D; HENRISSAT B; VORGIAS CE; GRAVEL RA; HECHTMAN P; KAPLAN F
      IDENTIFICATION OF CANDIDATE ACTIVE-SITE RESIDUES IN LYSOSOMAL BETA-HEXOSAMINIDASE-A

      The Journal of biological chemistry
    12. TEWS I; PERRAKIS A; OPPENHEIM A; DAUTER Z; WILSON KS; VORGIAS CE
      BACTERIAL CHITOBIASE STRUCTURE PROVIDES INSIGHT INTO CATALYTIC MECHANISM AND THE BASIS OF TAY-SACHS-DISEASE

      Nature structural biology
    13. BORNEMANN A; BESSER R; SHIN YS; GOEBEL HH
      MILD ADULT MYOPATHIC VARIANT OF TYPE-IV GLYCOGENOSIS

      Neuromuscular disorders
    14. HOU YM; TSE R; MAHURAN DJ
      DIRECT DETERMINATION OF THE SUBSTRATE-SPECIFICITY OF THE ALPHA-ACTIVESITE IN HETERODIMERIC BETA-HEXOSAMINIDASE-A

      Biochemistry
    15. DEGASPERI R; SOSA MAG; GREBNER EE; MANSFIELD D; BATTISTINI S; SARTORATO EL; RAGHAVAN SS; DAVIS JG; KOLODNY EH
      SUBSTITUTION OF ALANINE(543) WITH A THREONINE RESIDUE AT THE CARBOXY-TERMINAL END OF THE BETA-CHAIN IS ASSOCIATED WITH THERMOLABILE HEXOSAMINIDASE-B IN A JEWISH FAMILY OF ORIENTAL ANCESTRY

      Biochemical and molecular medicine
    16. ZHANG ZX; WAKAMATSU N; AKERMAN BR; MULES EH; THOMAS GH; GRAVEL RA
      A 2ND, LARGE DELETION IN THE HEXB GENE IN A PATIENT WITH INFANTILE SANDHOFF-DISEASE

      Human molecular genetics
    17. HARRISON MJG; TEEPEN JLJM
      A CASE OF RECURRENT HEADACHE AND NEUROLOGICAL DEFICIT

      Journal of Neurology, Neurosurgery and Psychiatry
    18. MAHURAN DJ
      BETA-HEXOSAMINIDASE - BIOSYNTHESIS AND PROCESSING OF THE NORMAL ENZYME, AND IDENTIFICATION OF MUTATIONS CAUSING JEWISH TAY-SACHS-DISEASE

      Clinical biochemistry


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/01/21 alle ore 05:14:34