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La ricerca find articoli where soggetti phrase all words 'BETA-HEXOSAMINIDASE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 193 riferimenti
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    1. Pierce, DC; Butler, KD; Roer, RD
      Effects of exogenous N-acetylhexosaminidase on the structure and mineralization of the post-ecdysial exoskeleton of the blue crab, Callinectes sapidus

      COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY B-BIOCHEMISTRY & MOLECULAR BIOLOGY
    2. Gomez-Lira, M; Mottes, M; Perusi, C; Pignatti, PF; Rizzuto, N; Gatti, R; Salviati, A
      A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease

      MOLECULAR AND CELLULAR PROBES
    3. Schellenberg, F; Nalpas, B
      Incoming markers of alcohol abuse.

      PATHOLOGIE BIOLOGIE
    4. Rajavel, KS; Neufeld, EF
      Nonsense-mediated decay of human HEXA mRNA

      MOLECULAR AND CELLULAR BIOLOGY
    5. Herbst, LH; Chakrabarti, R; Klein, PA; Achary, M
      Differential gene expression associated with tumorigenicity of cultured green turtle fibropapilloma-derived fibroblasts

      CANCER GENETICS AND CYTOGENETICS
    6. Bach, G; Tomczak, J; Risch, N; Ekstein, J
      Tay-sachs screening in the Jewish Ashkenazi population: DNA testing is thepreferred procedure

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Beck, M
      Variable clinical presentation in lysosomal storage disorders

      JOURNAL OF INHERITED METABOLIC DISEASE
    8. Kaback, MM; Desnick, RJ
      Tay-Sachs disease: From clinical description to molecular defect

      TAY-SACHS DISEASE
    9. Myerowitz, R
      The search for the genetic lesion in Ashkenazi Jews with classic Tay-Sachsdisease

      TAY-SACHS DISEASE
    10. Navon, R
      Late-onset G(M2) gangliosidosis and other hexosaminidase mutations among Jews

      TAY-SACHS DISEASE
    11. Triggs-Raine, B; Mahuran, DJ; Gravel, RA
      Naturally occurring mutations in G(M2) gangliosidosis: A compendium

      TAY-SACHS DISEASE
    12. Risch, N
      Molecular epidemiology of Tay-Sachs disease

      TAY-SACHS DISEASE
    13. Eng, CM; Desnick, RJ
      Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases

      TAY-SACHS DISEASE
    14. Desnick, RJ; Kaback, MM
      Future perspectives for Tay-Sachs disease

      TAY-SACHS DISEASE
    15. Ivanova, LN; Melidi, NN
      Effects of vasopressin on hyaluronate hydrolase activities and water permeability in the frog urinary bladder

      PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
    16. Duffy, SM; Lawley, WJ; Conley, EC; Bradding, P
      Resting and activation-dependent ion channels in human mast cells

      JOURNAL OF IMMUNOLOGY
    17. Sharpe, PC
      Biochemical detection and monitoring of alcohol abuse and abstinence

      ANNALS OF CLINICAL BIOCHEMISTRY
    18. Miranda, PV; Gonzalez-Echeverriia, F; Blaquier, JA; Mahuran, DJ; Tezon, JG
      Evidence for the participation of beta-hexosaminidase in human sperm-zona pellucida interaction in vitro

      MOLECULAR HUMAN REPRODUCTION
    19. Wyczolkowska, J; Weyer, A; Dastych, J
      Inhibitory effect of wheat germ agglutinin on mouse mast cell adhesion to fibronectin

      INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY
    20. Kase, R; Bierfreund, U; Klein, A; Kolter, T; Utsumi, K; Itoh, K; Sandhoff, K; Sakuraba, H
      Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    21. Berenbaum, F; Le Gars, L; Toussirot, E; Sanon, A; Bories, C; Kaplan, G; Loiseau, PM
      Marked elevation of serum N-acetyl-beta-D-hexosaminidase activity in rheumatoid rheumatoid arthritis

      CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
    22. 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
    23. Kaback, MM
      Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model

      EUROPEAN JOURNAL OF PEDIATRICS
    24. Lowe, DM; Fossato, VU
      The influence of environmental contaminants on lysosomal activity in the digestive cells of mussels (Mytilus galloprovincialis) from the Venice Lagoon

      AQUATIC TOXICOLOGY
    25. Bierfreund, U; Kolter, T; Sandhoff, K
      Sphingolipid hydrolases and activator proteins

      SPHINGOLIPID METABOLISM AND CELL SIGNALING, PT A
    26. Luedtke, CC; Andonian, S; Igdoura, S; Hermo, L
      Cathepsin A is expressed in a cell- and region-specific manner in the testis and epididymis and is not regulated by testicular or pituitary factors

      JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY
    27. Martinez, I; Chakrabarti, S; Hellevik, T; Morehead, J; Fowler, K; Andrews, NW
      Synaptotagmin VII regulates Ca2+-dependent exocytosis of lysosomes in fibroblasts

      JOURNAL OF CELL BIOLOGY
    28. Tanaka, Y; Taguchi, S; Yoshida, S; Hori, S; Takagaki, Y
      Effects of pyrethroid and organophosphorus pesticides on beta-hexosaminidase release from rat basophilic leukemia cells (RBL-2H3)

      JOURNAL OF THE FOOD HYGIENIC SOCIETY OF JAPAN
    29. Karpati, M; Peleg, L; Gazit, E; Akstein, E; Goldman, B
      A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin

      CLINICAL GENETICS
    30. Oya, Y; Proia, RL; Norflus, F; Tifft, CJ; Langaman, C; Suzuki, K
      Distribution of enzyme-bearing cells in GM(2) gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation

      ACTA NEUROPATHOLOGICA
    31. Kolter, T; Sandhoff, K
      Sphingolipids - Their metabolic pathways and the pathobiochemistry of neurodegenerative diseases

      ANGEWANDTE CHEMIE-INTERNATIONAL EDITION
    32. Yoshida, K; Moriguchi, H; Sumi, S; Horimi, H; Kitahara, S; Umeda, H; Ueda, Y
      Alterations of asparagine-linked sugar chains of N-acetyl beta-D-hexosaminidase during human renal oncogenesis: a preliminary study using serial lectin affinity chromatography

      JOURNAL OF CHROMATOGRAPHY B
    33. Furihata, K; Drousiotou, A; Hara, Y; Christopoulos, G; Stylianidou, G; Anastasiadou, V; Ueno, I; Ioannou, P
      Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease

      HUMAN MUTATION
    34. Guidotti, JE; Mignon, A; Haase, G; Caillaud, C; McDonell, N; Kahn, A; Poenaru, L
      Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice

      HUMAN MOLECULAR GENETICS
    35. Mahuran, DJ
      Biochemical consequences of mutations causing the GM2 gangliosidoses

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    36. Bierfreund, U; Lemm, T; Hoffmann, A; Uhlhorn-Dierks, G; Childs, RA; Yuen, CT; Feizi, T; Sandhoff, K
      Recombinant GM2-activator protein stimulates in vivo degradation of GA2 inGM2 gangliosidosis AB variant fibroblasts but exhibits no detectable binding of GA2 in an in vitro assay

      NEUROCHEMICAL RESEARCH
    37. Kolter, T; Doering, T; Wilkening, G; Werth, N; Sandhoff, K
      Recent advances in the biochemistry of glycosphingolipid metabolism

      BIOCHEMICAL SOCIETY TRANSACTIONS
    38. Bradford, TM; Gething, MJ; Davey, R; Hopwood, JJ; Brooks, DA
      Processing of normal lysosomal and mutant N-acetylgalactosamine 4-sulphatase: BiP (immunoglobulin heavy-chain binding protein) may interact with critical protein contact sites

      BIOCHEMICAL JOURNAL
    39. Lee, E; Choi, EJ; Cheong, H; Kim, YR; Ryu, SY; Kim, KM
      Anti-allergic actions of the leaves of Castanea crenata and isolation of an active component responsible for the inhibition of mast cell degranulation

      ARCHIVES OF PHARMACAL RESEARCH
    40. Alexandrakis, M; Singh, L; Boucher, W; Letourneau, R; Theofilopoulos, P; Theoharides, TC
      Differential effect of flavonoids on inhibition of secretion and accumulation of secretory granules in rat basophilic leukemia cells

      INTERNATIONAL JOURNAL OF IMMUNOPHARMACOLOGY
    41. Inoue, T; Yamauchi, M; Ohkawa, K
      Structural studies on sugar chains of carbohydrate-deficient transferrin from patients with alcoholic liver disease using lectin affinity electrophoresis

      ELECTROPHORESIS
    42. Bendet, N; Morozov, V; Lavi, R; Panski, M; Halevy, A; Scapa, E
      Does laparoscopic cholecystectomy influence peri-sinusoidal cell activity?

      HEPATO-GASTROENTEROLOGY
    43. Humaloja, K; Roine, RP; Vuoristo, M; Farkkila, M; Hockerstedt, K; Salaspuro, M
      Serum dolichols in chronic cholestatic liver diseases

      JOURNAL OF HEPATOLOGY
    44. Nilsson, KGI; Eliasson, A; Pan, HF; Rohman, M
      Synthesis of disaccharide derivatives employing beta-N-acetyl-D-hexosaminidase, beta-D-galactosidase and beta-D-glucuronidase

      BIOTECHNOLOGY LETTERS
    45. Isaksson, B; Hultberg, B; Hansson, L; Bengtsson, F; Jeppsson, B
      Effect of mesocaval interposition shunting and repeated sclerotherapy on blood levels of gastrointestinal regulatory peptides, amino acids, and lysosomal enzymes - a prospective randomised trial

      LIVER
    46. Bertoni, C; Li, YT; Li, SC
      Catabolism of asialo-GM2 in man and mouse - Specificity of human/mouse chimeric GM2 activator proteins

      JOURNAL OF BIOLOGICAL CHEMISTRY
    47. Schmid, JA; Mach, L; Paschke, E; Glossl, J
      Accumulation of sialic acid in endocytic compartments interferes with the formation of mature lysosomes - Impaired proteolytic processing of cathepsin B in fibroblasts of patients with lysosomal sialic acid storage disease

      JOURNAL OF BIOLOGICAL CHEMISTRY
    48. Williams, RM; Shear, JB; Zipfel, WR; Maiti, S; Webb, WW
      Mucosal mast cell secretion processes imaged using three-photon microscopyof 5-hydroxytryptamine autofluorescence

      BIOPHYSICAL JOURNAL
    49. Rigat, B; Reynaud, D; Smiljanic-Georgijev, N; Mahuran, D
      The GM2 activator protein, a novel inhibitor of platelet-activating factor

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    50. Chen, B; Rigat, B; Curry, C; Mahuran, DJ
      Structure of the GM2A gene: Identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2

      AMERICAN JOURNAL OF HUMAN GENETICS
    51. Arciuch, LP; Bielecki, D; Borzym, M; Poludniewski, G; Arciszewki, K; Rozanski, A; Zwierz, K
      Isoenzymes of N-acetyl-beta-hexosaminidase in complicated pregnancy

      ACTA BIOCHIMICA POLONICA
    52. Zwierz, K; Zalewska, A; Zoch-Zwierz, W
      Isoenzymes of N-acetyl-beta-hexosaminidase

      ACTA BIOCHIMICA POLONICA
    53. Ozkara, HA; Navon, R
      At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population

      MOLECULAR GENETICS AND METABOLISM
    54. KLEIMAN FE; RAMIREZ AO; AKERMAN B; DEKREMER RD; GRAVEL RA; ARGARANA CE
      A FREQUENT TG DELETION NEAR THE POLYADENYLATION SIGNAL OF THE HUMAN HEXB GENE - OCCURRENCE OF AN IRREGULAR DNA-STRUCTURE AND CONSERVED NUCLEOTIDE-SEQUENCE MOTIF IN THE 3'-UNTRANSLATED REGION

      Human mutation
    55. 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
    56. KOLTER T; SANDHOFF K
      RECENT ADVANCES IN THE BIOCHEMISTRY OF SPHINGOLIPIDOSES

      Brain pathology
    57. ITO H; MIYAZAKI T; ONO M; SAKURAI H
      ANTIALLERGIC ACTIVITIES OF RABDOSIIN AND ITS RELATED-COMPOUNDS - CHEMICAL AND BIOCHEMICAL EVALUATIONS

      Bioorganic & medicinal chemistry
    58. GUIDOTTI JE; AKLI S; CASTELNAUPTAKHINE L; KAHN A; POENARU L
      RETROVIRUS-MEDIATED ENZYMATIC CORRECTION OF TAY-SACHS DEFECT IN TRANSDUCED AND NON-TRANSDUCED CELLS

      Human molecular genetics
    59. MURATA T; ITOH T; USUI T
      ENZYMATIC-SYNTHESIS OF -[-BETA-D-GLCNAC-(1-]6)]-ALPHA-D-GALNAC-OC6H4NO2-P AS A CARBOHYDRATE UNIT OF MUCIN-TYPE-2 CORE

      Glycoconjugate journal
    60. HAUGE T; NILSSON A; PERSSON J; HULTBERG B
      GAMMA-GLUTAMYL-TRANSFERASE, INTESTINAL ALKALINE-PHOSPHATASE AND BETA-HEXOSAMINIDASE ACTIVITY IN DUODENAL BIOPSIES FROM CHRONIC-ALCOHOLICS

      Hepato-gastroenterology
    61. LEMANSKY P; BRIX K; HERZOG V
      IODINATION OF MATURE CATHEPSIN-D IN THYROCYTES AS AN INDICATOR FOR ITS TRANSPORT TO THE CELL-SURFACE

      European journal of cell biology
    62. SAKAI N; FUKUSHIMA H; INUI K; FU L; NISHIGAKI T; YANAGIHARA I; TATSUMI N; OZONO K; OKADA S
      HUMAN GALACTOCEREBROSIDASE GENE - PROMOTER ANALYSIS OF THE 5'-FLANKING REGION AND STRUCTURAL ORGANIZATION

      Biochimica et biophysica acta, N. Gene structure and expression
    63. GOMEZLIRA M; PERUSI C; MOTTES M; PIGNATTI PF; RIZZUTO N; GATTI R; SALVIATI A
      SPLICING MUTATION CAUSES INFANTILE SANDHOFF-DISEASE

      American journal of medical genetics
    64. KOLTER T; SANDHOFF K
      GLYCOSPHINGOLIPID DEGRADATION AND ANIMAL-MODELS OF GM2-GANGLIOSIDOSES

      Journal of inherited metabolic disease
    65. 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
    66. DACOSTA SR; YARBER FA; ZHANG LP; SONEE M; HAMMALVAREZ SF
      MICROTUBULES FACILITATE THE STIMULATED SECRETION OF BETA-HEXOSAMINIDASE IN LACRIMAL ACINAR-CELLS

      Journal of Cell Science
    67. MACDONALD AJ; PICK J; BISSONNETTE EY; BEFUS AD
      RAT MUCOSAL MAST-CELLS - THE CULTURED BONE-MARROW-DERIVED MAST-CELL IS BIOCHEMICALLY AND FUNCTIONALLY ANALOGOUS TO ITS COUNTERPART IN-VIVO

      Immunology
    68. MAHURAN DJ
      THE GM2 ACTIVATOR PROTEIN, ITS ROLES AS A COFACTOR IN GM2 HYDROLYSIS AND AS A GENERAL GLYCOLIPID TRANSPORT PROTEIN

      Biochimica et biophysica acta, L. Lipids and lipid metabolism
    69. SANDHOFF K; KOLTER T
      PROCESSING OF SPHINGOLIPID ACTIVATOR PROTEINS AND THE TOPOLOGY OF LYOSOMAL DIGESTION

      Acta Biochimica Polonica
    70. MYEROWITZ R
      TAY-SACHS DISEASE-CAUSING MUTATIONS AND NEUTRAL POLYMORPHISMS IN THE HEX-A GENE

      Human mutation
    71. 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
    72. KAUFMAN M; GRINSHPUNCOHEN J; KARPATI M; PELEG L; GOLDMAN B; AKSTEIN E; ADAM A; NAVON R
      TAY-SACHS-DISEASE AND HEXA MUTATIONS AMONG MOROCCAN JEWS

      Human mutation
    73. STRASBERG P; WARREN I; SKOMOROWSKI MA; FEIGENBAUM A
      HOMOZYGOSITY FOR THE COMMON ASHKENAZI JEWISH TAY-SACHS -12 SPLICE-JUNCTION MUTATION - FIRST REPORT(1 IVS)

      Human mutation
    74. FERNANDES MJG; HECHTMAN P; BOULAY B; KAPLAN F
      A CHRONIC GM(2) GANGLIOSIDOSIS VARIANT WITH A HEXA SPLICING DEFECT - QUANTITATION OF HEXA MESSENGER-RNAS IN NORMAL AND MUTANT FIBROBLASTS

      European journal of human genetics
    75. POMPONIO RJ; REYNOLDS TR; MANDEL H; ADMONI O; MELONE PD; BUCK GA; WOLF B
      PROFOUND BIOTINIDASE DEFICIENCY CAUSED BY A POINT MUTATION THAT CREATES A DOWNSTREAM CRYPTIC 3'-SPLICE ACCEPTOR SITE WITHIN AN EXON OF THE HUMAN BIOTINIDASE GENE

      Human molecular genetics
    76. HARTZ AJ; GUSE C; KAJDACSYBALLA A
      IDENTIFICATION OF HEAVY DRINKERS USING A COMBINATION OF LABORATORY TESTS

      Journal of clinical epidemiology
    77. WAKAMATSU N; GOTODA Y; SAITO S; KAWAI H
      CHARACTERIZATION OF THE HUMAN MANB GENE ENCODING LYSOSOMAL ALPHA-D-MANNOSIDASE

      Gene
    78. NAVON R; KHOSRAVI R; MELKI J; DRUCKER L; FONTAINE B; TURPIN JC; NGUYEN B; FARDEAU M; RONDOT P; BAUMANN N
      JUVENILE-ONSET SPINAL MUSCULAR-ATROPHY CAUSED BY COMPOUND HETEROZYGOSITY FOR MUTATIONS IN THE HEXA GENE

      Annals of neurology
    79. MURATA T; TASHIRO A; ITOH T; USUI T
      ENZYMATIC-SYNTHESIS OF 3'-O-N-ACETYLGLUCOSAMINYL-N-ACETYLLACTOSAMINIDE AND 6'-O-N-ACETYLGLUCOSAMINYL-N-ACETYLLACTOSAMINIDE GLYCOSIDES CATALYZED BY BETA-N-ACETYL-D-HEXOSAMINIDASE FROM NOCARDIA-ORIENTALIS

      Biochimica et biophysica acta (G). General subjects
    80. XIONG SQ; RODGERS K
      EFFECTS OF MALATHION METABOLITES ON DEGRANULATION OF AND MEDIATOR RELEASE BY HUMAN AND RAT BASOPHILIC CELLS

      Journal of toxicology and environmental health
    81. CAMPANELLO M; HERLITZ H; HULTBERG B; ZACHRISSON BF; AKERLUND S; JONSSON O
      SERUM LEVELS OF IGG ANTIBODIES AGAINST TAMM-HORSFALL PROTEIN AND URINARY-EXCRETION OF NAG AND ALPHA-1-MICROGLOBULIN AS POSSIBLE MARKERS FORTUBULAR DAMAGE IN PATIENTS WITH A CONTINENT ILEAL RESERVOIR FOR URINARY-DIVERSION

      Scandinavian journal of urology and nephrology
    82. BERATIS NG; MAVROMMATIS T; HATIRIS I; KAVALIOTIS J; TSAGAROPOULOUSTIGA H; SYROGIANNOPOULOS GA
      INCREASED ACTIVITY OF LYSOSOMAL ACID-HYDROLASES IN THE CELL-FREE CEREBROSPINAL-FLUID OF BACTERIAL-MENINGITIS

      Pediatric research
    83. HUND E; GRAU A; FOGEL W; FORSTING M; CANTZ M; KUSTERMANNKUHN B; HARZER K; NAVON R; GOEBEL HH; MEINCK HM
      PROGRESSIVE CEREBELLAR-ATAXIA, PROXIMAL NEUROGENIC WEAKNESS AND OCULAR MOTOR DISTURBANCES - HEXOSAMINIDASE-A DEFICIENCY WITH LATE CLINICAL ONSET IN 4 SIBLINGS

      Journal of the neurological sciences
    84. FREISCHUTZ B; TOKUDA A; ARIGA T; BERMUDEZ AJ; YU RK
      UNUSUAL GANGLIOSIDOSIS IN EMU (DROMAIUS-NOVAEHOLLANDIAE)

      Journal of neurochemistry
    85. GLOMBITZA GJ; BECKER E; KAISER HW; SANDHOFF K
      BIOSYNTHESIS, PROCESSING, AND INTRACELLULAR-TRANSPORT OF G(M2) ACTIVATOR PROTEIN IN HUMAN EPIDERMAL-KERATINOCYTES - THE LYSOSOMAL TARGETINGOF THE G(M2) ACTIVATOR IS INDEPENDENT OF A MANNOSE-6-PHOSPHATE SIGNAL

      The Journal of biological chemistry
    86. TANAKA Y; KONISHI Y; TAKAGAKI Y
      EFFECT OF SPICES ON BETA-HEXOSAMINIDASE R ELEASE FROM RAT BASOPHILIC LEUKEMIA-CELLS (RBL-2H3)

      Shokuhin Eiseigaku Zasshi
    87. BROOKS DA
      PROTEIN PROCESSING - A ROLE IN THE PATHOPHYSIOLOGY OF GENETIC-DISEASE

      FEBS letters
    88. SANDHOFF K; KOLTER T
      BIOCHEMISTRY OF GLYCOSPHINGOLIPID DEGRADATION

      Clinica chimica acta
    89. SAKURABA H; ITOH K; KUROKI Y; KASE R; SHIMMOTO M; UTSUMI K; OZAWA H; TAI T; HARA A; UYAMA E
      IMMUNOCYTOCHEMICAL DETECTION OF ACCUMULATED SUBSTRATES IN CULTURED FIBROBLASTS FROM PATIENTS WITH THE INFANTILE AND ADULT FORMS OF SANDHOFF-DISEASE

      Clinica chimica acta
    90. BAIRATI C; GOI G; BOLLINI D; ROGGI C; LUCA M; APOSTOLI P; LOMBARDO A
      EFFECTS OF LEAD AND MANGANESE ON THE RELEASE OF LYSOSOMAL-ENZYMES IN-VITRO AND IN-VIVO

      Clinica chimica acta
    91. RIGAT B; WANG W; LEUNG A; MAHURAN DJ
      2 MECHANISMS FOR THE RECAPTURE OF EXTRACELLULAR GM(2) ACTIVATOR PROTEIN - EVIDENCE FOR A MAJOR SECRETORY FORM OF THE PROTEIN

      Biochemistry
    92. AKERMAN BR; NATOWICZ MR; KABACK MM; LOYER M; CAMPEAU E; GRAVEL RA
      NOVEL MUTATIONS AND DNA-BASED SCREENING IN NON-JEWISH CARRIERS OF TAY-SACHS-DISEASE

      American journal of human genetics
    93. GILMARTIN E; GILSEIJO S; NIETONOVOA C; FERNANDEZBRIERA A
      ELEVATION OF ACID GLYCOSIDASE ACTIVITIES IN THYROID AND GASTRIC TUMORS

      International journal of biochemistry & cell biology
    94. DEMARCHI JM; CASKEY CT; RICHARDS CS
      POPULATION-SPECIFIC SCREENING BY MUTATION ANALYSIS FOR DISEASES FREQUENT IN ASHKENAZI JEWS

      Human mutation
    95. PRASAD VVTS; PULLARKAT RK
      BRAIN LYSOSOMAL HYDROLASES IN NEURONAL CEROID-LIPOFUSCINOSES

      Molecular and chemical neuropathology
    96. AKLI S; GUIDOTTI JE; VIGNE E; PERRICAUDET M; SANDHOFF K; KAHN A; POENARU L
      RESTORATION OF HEXOSAMINIDASE-A ACTIVITY IN HUMAN TAY-SACHS FIBROBLASTS VIA ADENOVIRAL VECTOR-MEDIATED GENE-TRANSFER

      Gene therapy
    97. SANDHOFF K; KOLTER T
      TOPOLOGY OF GLYCOSPHINGOLIPID DEGRADATION

      Trends in cell biology
    98. TORU H; RA C; NONOYAMA S; SUZUKI K; YATA J; NAKAHATA T
      INDUCTION OF THE HIGH-AFFINITY IGE RECEPTOR (FC-EPSILON-RI) ON HUMAN MAST-CELLS BY IL-4

      International immunology
    99. STERNER G; FRENNBY B; HULTBERG B; ALMEN T
      IOHEXOL CLEARANCE FOR GFR-DETERMINATION IN RENAL-FAILURE - SINGLE OR MULTIPLE PLASMA SAMPLING

      Nephrology, dialysis, transplantation
    100. REDONNETVERNHET I; MAHURAN DJ; SALVAYRE R; DUBAS F; LEVADE T
      SIGNIFICANCE OF 2 POINT MUTATIONS PRESENT IN EACH HEXB ALLELE OF PATIENTS WITH ADULT G(M2) GANGLIOSIDOSIS (SANDHOFF DISEASE) - HOMOZYGOSITYFOR THE ILE(207)-]VAL SUBSTITUTION IS NOT ASSOCIATED WITH A CLINICAL OR BIOCHEMICAL PHENOTYPE

      Biochimica et biophysica acta. Molecular basis of disease


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Documento generato il 10/08/20 alle ore 05:14:19