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La ricerca find articoli where soggetti phrase all words 'TAY-SACHS-DISEASE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 182 riferimenti
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    1. Scriver, CR
      Human genetics: Lessons from Quebec populations

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    2. Lachmann, RH; Platt, FM
      Substrate reduction therapy for glycosphingolipid storage disorders

      EXPERT OPINION ON INVESTIGATIONAL DRUGS
    3. Min, KT
      Drosophila as a model to study human brain degenerative diseases

      PARKINSONISM & RELATED DISORDERS
    4. Teixeira, CA; Sena-Esteves, M; Lopes, L; Miranda, MCS; Ribeiro, MG
      Retrovirus-mediated transfer and expression of beta-hexosaminidase alpha-chain cDNA in human fibroblasts from G(M2)-gangliosidosis B1 variant

      HUMAN GENE THERAPY
    5. Ludwig, M; Geipel, A; Berg, C; Gembruch, U; Schwinger, E; Diedrich, K
      Is intracytoplasmic sperm injection itself an indication to perform preimplantation genetic diagnosis (PGD)? About PGD, invasive prenatal diagnosis and genetic sonography

      FETAL DIAGNOSIS AND THERAPY
    6. Poenaru, L
      From gene transfer to gene therapy in lysosomal storage diseases affectingthe central nervous system

      ANNALS OF MEDICINE
    7. Rajavel, KS; Neufeld, EF
      Nonsense-mediated decay of human HEXA mRNA

      MOLECULAR AND CELLULAR BIOLOGY
    8. 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
    9. Platt, FM; Jeyakumar, M; Andersson, U; Priestman, DA; Dwek, RA; Butters, TD; Cox, TM; Lachmann, RH; Hollak, C; Aerts, JMFG; Van Weely, S; Hrebicek, M; Moyses, C; Gow, I; Elstein, D; Zimran, A
      Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy

      JOURNAL OF INHERITED METABOLIC DISEASE
    10. Zinberg, RE; Kornreich, R; Edelmann, L; Desnick, RJ
      Prenatal genetic screening in the Ashkenazi Jewish population

      CLINICS IN PERINATOLOGY
    11. Kolodny, EH
      Molecular genetics of the beta-hexosaminidase isoenzymes: An introduction

      TAY-SACHS DISEASE
    12. Proia, RL
      Cloning the beta-hexosaminidase genes

      TAY-SACHS DISEASE
    13. Mahuran, DJ; Gravel, RA
      The beta-hexosaminidase story in Toronto: From enzyme structure to gene mutation

      TAY-SACHS DISEASE
    14. Neufeld, EF; d'Azzo, A
      Biosynthesis of normal and mutant beta-hexosaminidases

      TAY-SACHS DISEASE
    15. Suzuki, K
      Recognition and delineation of beta-hexosaminidase alpha-chain variants: Ahistorical and personal perspective

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

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

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

      TAY-SACHS DISEASE
    19. Gold, B
      DNA genotyping

      ADVANCES IN CLINICAL CHEMISTRY, VOL 36
    20. Kaback, MM
      The "Asilomar process" and the Human Genome Project

      PERSPECTIVES IN BIOLOGY AND MEDICINE
    21. Mark, BL; Vocadlo, DJ; Knapp, S; Triggs-Raine, BL; Withers, SG; James, MNG
      Crystallographic evidence for substrate-assisted catalysis in a bacterial beta-hexosaminidase

      JOURNAL OF BIOLOGICAL CHEMISTRY
    22. Hou, YM; Vocadlo, DJ; Leung, A; Withers, SG; Mahuran, D
      Characterization of the Glu and Asp residues in the active site of human beta-hexosaminidase B

      BIOCHEMISTRY
    23. Sharma, R; Deng, HN; Leung, A; Mahuran, D
      Identification of the 6-sulfate binding site unique to alpha-subunit-containing isozymes of human beta-hexosaminidase

      BIOCHEMISTRY
    24. Zlotogora, J; Leventhal, A
      Screening for genetic disorders among Jews: How should the Tay-Sachs screening program be continued?

      ISRAEL MEDICAL ASSOCIATION JOURNAL
    25. Aridor, M; Hannan, LA
      Traffic jam: A compendium of human diseases that affect intracellular transport processes

      TRAFFIC
    26. 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

    27. Engraftable human neural stem cells

      EXPERT OPINION ON THERAPEUTIC PATENTS
    28. Cordeiro, P; Hechtman, P; Kaplan, F
      The G(M2) gangliosidoses databases: Allelic variation at the HEXA, HEKB, and GM2A gene loci

      GENETICS IN MEDICINE
    29. Liu, MC; Drury, KC; Kipersztok, S; Zheng, WR; Williams, RS
      Primer system for single cell detection of double mutation for Tay-Sachs disease

      JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
    30. Potratz, A; Huttler, S; Bierfreund, U; Proia, RL; Suzuki, K; Sandhoff, K
      Quantification of mRNAs encoding proteins of the glycosphingolipid catabolism in mouse models of GM2 gangliosidoses and sphingolipid activator protein precursor (prosaposin) deficiency

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    31. Caillaud, C; Poenaru, L
      Gene therapy in lysosomal diseases

      BIOMEDICINE & PHARMACOTHERAPY
    32. 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
    33. Kaback, MM
      Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model

      EUROPEAN JOURNAL OF PEDIATRICS
    34. Zelnik, N; Khazanov, V; Sheinkman, A; Karpati, AM; Peleg, L
      Clinical manifestations of psychiatric patients who are carriers of Tay-Sachs disease - Possible role of psychotropic drugs

      NEUROPSYCHOBIOLOGY
    35. Wright, CS; Li, SC; Rastinejad, F
      Crystal structure of human GM2-activator protein with a novel beta-cup topology

      JOURNAL OF MOLECULAR BIOLOGY
    36. Butters, TD; Dwek, RA; Platt, FM
      Inhibition of glycosphingolipid biosynthesis: Application to lysosomal storage disorders

      CHEMICAL REVIEWS
    37. Hou, YM; Vocadlo, D; Withers, S; Mahuran, D
      Role of beta Arg(211) in the active site of human beta-hexosaminidase B

      BIOCHEMISTRY
    38. Diaz, GA; Gelb, BD; Risch, N; Nygaard, TG; Frisch, A; Cohen, IJ; Miranda, CS; Amaral, O; Maire, I; Poenaru, L; Caillaud, C; Weizberg, M; Mistry, P; Desnick, RJ
      Gaucher disease: The origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations

      AMERICAN JOURNAL OF HUMAN GENETICS
    39. 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
    40. Tanaka, A; Fujimaru, M; Choeh, K; Isshiki, G
      Novel mutations including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patientswith Tay-Sachs disease

      JOURNAL OF HUMAN GENETICS
    41. Kolter, T; Sandhoff, K
      Sphingolipids - Their metabolic pathways and the pathobiochemistry of neurodegenerative diseases

      ANGEWANDTE CHEMIE-INTERNATIONAL EDITION
    42. Mahuran, DJ
      Biochemical consequences of mutations causing the GM2 gangliosidoses

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    43. Rosebush, PI; Garside, S; Levinson, AJ; Mazurek, MF
      The neuropsychiatry of adult-onset adrenoleukodystrophy

      JOURNAL OF NEUROPSYCHIATRY AND CLINICAL NEUROSCIENCES
    44. Henn, W
      Genetic screening with the DNA chip: a new Pandora's box?

      JOURNAL OF MEDICAL ETHICS
    45. Amutha, B; Khire, JM; Khan, MI
      Active site characterization of the exo-N-acetyl-beta-D-glucosaminidase from thermotolerant Bacillus sp NCIM 5120: involvement of tryptophan, histidine and carboxylate residues in catalytic activity

      BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
    46. Adamali, HI; Somani, IH; Huang, JQ; Mahuran, D; Gravel, RA; Trasler, JM; Hermo, L
      II. Characterization and development of the regional- and cellular-specific abnormalities in the epididymis of mice with beta-hexosaminidase A deficiency

      JOURNAL OF ANDROLOGY
    47. Forster, PL; Buckley, R; Phelps, MA
      Phenomenology and treatment of psychotic disorders in the psychiatric emergency service

      PSYCHIATRIC CLINICS OF NORTH AMERICA
    48. Garside, S; Rosebush, PI; Levinson, AJ; Mazurek, MF
      Late-onset adrenoleukodystrophy associated with long-standing psychiatric symptoms

      JOURNAL OF CLINICAL PSYCHIATRY
    49. Forster, A; Heuss, D; Claus, D
      Hexosaminidase deficiency is a differential diagnosis of spinocerebellar degeneration

      NERVENARZT
    50. Folkerth, RD
      Abnormalities of developing white matter in lysosomal storage diseases

      JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
    51. Liu, YJ; Wada, R; Kawai, H; Sango, K; Deng, CX; Tai, T; McDonald, MP; Araujo, K; Crawley, JN; Bierfreund, U; Sandhoff, K; Suzuki, K; Proia, RL
      A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder

      JOURNAL OF CLINICAL INVESTIGATION
    52. 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
    53. Wu, MH; Laine, RA
      Sequence of the V. parahaemolyticus gene for cytoplasmic N,N '-diacetylchitobiase and homology with related enzymes

      JOURNAL OF BIOCHEMISTRY
    54. Li, YT; Li, SC
      Enzymatic hydrolysis of glycosphingolipids

      ANALYTICAL BIOCHEMISTRY
    55. 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
    56. Oddoux, C; Clayton, CM; Nelson, HR; Ostrer, H
      Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews

      AMERICAN JOURNAL OF HUMAN GENETICS
    57. Fox, J; Li, YT; Dawson, G; Alleman, A; Johnsrude, J; Schumacher, J; Homer, B
      Naturally occurring G(M2) gangliosidosis in two Muntjak deer with pathological and biochemical features of human classical Tay-Sachs disease (type B G(M2) gangliosidosis)

      ACTA NEUROPATHOLOGICA
    58. Zwierz, K; Zalewska, A; Zoch-Zwierz, W
      Isoenzymes of N-acetyl-beta-hexosaminidase

      ACTA BIOCHIMICA POLONICA
    59. SANKARANARAYANAN K
      IONIZING-RADIATION AND GENETIC RISKS - 9 - ESTIMATES OF THE FREQUENCIES OF MENDELIAN-DISEASES AND SPONTANEOUS MUTATION-RATES IN HUMAN-POPULATIONS - A 1998 PERSPECTIVE

      Mutation research. Reviews in mutation research
    60. CHAVANY C; JENDOUBI M
      BIOLOGY AND POTENTIAL STRATEGIES FOR THE TREATMENT OF G(M2) GANGLIOSIDES

      Molecular medicine today
    61. Ozkara, HA; Navon, R
      At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population

      MOLECULAR GENETICS AND METABOLISM
    62. FLAX JD; AURORA S; YANG CH; SIMONIN C; WILLS AM; BILLINGHURST LL; JENDOUBI M; SIDMAN RL; WOLFE JH; KIM SU; SNYDER EY
      ENGRAFTABLE HUMAN NEURAL STEM-CELLS RESPOND TO DEVELOPMENTAL CUES, REPLACE NEURONS, AND EXPRESS FOREIGN GENES

      Nature biotechnology
    63. 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
    64. 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
    65. KOLTER T; SANDHOFF K
      RECENT ADVANCES IN THE BIOCHEMISTRY OF SPHINGOLIPIDOSES

      Brain pathology
    66. SUZUKI K; PROIA RL; SUZUKI K
      MOUSE MODELS OF HUMAN LYSOSOMAL DISEASES

      Brain pathology
    67. MCGRATH JA; HANDYSIDE AH
      PREIMPLANTATION GENETIC DIAGNOSIS OF SEVERE INHERITED SKIN DISEASES

      Experimental dermatology
    68. Sagi, M
      Ethical aspects of genetic screening in Israel

      SCIENCE IN CONTEXT
    69. FASOULIOTIS SJ; SCHENKER JG
      PREIMPLANTATION GENETIC DIAGNOSIS PRINCIPLES AND ETHICS

      Human reproduction (Oxford. Print)
    70. Wells, D; Sherlock, JK
      Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification

      PRENATAL DIAGNOSIS
    71. SUZUKI K; MANSSON JE
      ANIMAL-MODELS OF LYSOSOMAL DISEASE - AN OVERVIEW

      Journal of inherited metabolic disease
    72. KOLTER T; SANDHOFF K
      GLYCOSPHINGOLIPID DEGRADATION AND ANIMAL-MODELS OF GM2-GANGLIOSIDOSES

      Journal of inherited metabolic disease
    73. HENN W
      PREDICTIVE DIAGNOSIS AND GENETIC SCREENING - MANIPULATION OF FATE

      Perspectives in biology and medicine
    74. BICK D; FUGGER EE; POOL SH; HAZELRIGG WB; YADVISH KN; SPENCE WC; MADDALENA A; HOWARDPEEBLES PN; SCHULMAN JD
      SCREENING SEMEN DONORS FOR HEREDITARY-DISEASES - THE FAIRFAX CRYOBANKEXPERIENCE

      Journal of reproductive medicine
    75. CHEN WG; KUBOTA S; SEYAMA Y
      ALTERNATIVE PRE-MESSENGER-RNA SPLICING OF THE STEROL 27-HYDROXYLASE GENE (CYP-27) CAUSED BY A G-MUTATION TO A-MUTATION AT THE LAST NUCLEOTIDE OF EXON-6 IN A PATIENT WITH CEREBROTENDINOUS XANTHOMATOSIS (CTX)

      Journal of lipid research
    76. NORFLUS F; TIFFT CJ; MCDONALD MP; GOLDSTEIN G; CRAWLEY JN; HOFFMANN A; SANDHOFF K; SUZUKI K; PROIA RL
      BONE-MARROW TRANSPLANTATION PROLONGS LIFE-SPAN AND AMELIORATES NEUROLOGIC MANIFESTATIONS IN SANDHOFF DISEASE MICE

      The Journal of clinical investigation
    77. OSULLIVAN H
      USE AND DESIGN OF GENETIC SCREENING PROGRAMS - A STUDY

      Journal of Biological Education
    78. 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
    79. MARK BL; WASNEY GA; SALO TJS; KHAN AR; CAO ZM; ROBBINS PW; JAMES MNG; TRIGGSRAINE BL
      STRUCTURAL AND FUNCTIONAL-CHARACTERIZATION OF STREPTOMYCES-PLICATUS BETA-N-ACETYLHEXOSAMINIDASE BY COMPARATIVE MOLECULAR MODELING AND SITE-DIRECTED MUTAGENESIS

      The Journal of biological chemistry
    80. YUZIUK JA; BERTONI C; BECCARI T; ORLACCHIO A; WU YY; LI SC; LI YT
      SPECIFICITY OF MOUSE G(M2) ACTIVATOR PROTEIN AND BETA-N-ACETYLHEXOSAMINIDASE-A AND BETA-N-ACETYLHEXOSAMINIDASE-B - SIMILARITIES AND DIFFERENCES WITH THEIR HUMAN COUNTERPARTS IN THE CATABOLISM OF G(M2)

      The Journal of biological chemistry
    81. SUZUKI K; VANIER MT; SUZUKI K
      INDUCED MOUSE MODELS OF ABNORMAL SPHINGOLIPID METABOLISM

      Journal of Biochemistry
    82. PEREZ LF; TUTOR C
      ASSAY OF BETA-N-ACETYLHEXOSAMINIDASE ISOENZYMES IN DIFFERENT BIOLOGICAL SPECIMENS BY MEANS OF DETERMINATION OF THEIR ACTIVATION-ENERGIES

      Clinical chemistry
    83. CHEN WG; KUBOTA S; UJIKE H; ISHIHARA T; SEYAMA Y
      A NOVEL ARG(362)SER MUTATION IN THE STEROL 27-HYDROXYLASE GENE (CYP27) - ITS EFFECTS ON PRE-MESSENGER-RNA SPLICING AND ENZYME-ACTIVITY

      Biochemistry (Easton)
    84. XIE B; RIGAT B; SMILJANICGEORGIJEV N; DENG HN; MAHURAN D
      BIOCHEMICAL-CHARACTERIZATION OF THE CYS(138)ARG SUBSTITUTION ASSOCIATED WITH THE AB VARIANT FORM OF G(M2) GANGLIOSIDOSIS - EVIDENCE THAT CYS(138) IS REQUIRED FOR THE RECOGNITION OF THE G(M2) ACTIVATOR G(M2) GANGLIOSIDE COMPLEX BY BETA-HEXOSAMINIDASE-A/

      Biochemistry
    85. PLATT FM; BUTTERS TD
      NEW THERAPEUTIC PROSPECTS FOR THE GLYCOSPHINGOLIPID LYSOSOMAL STORAGEDISEASES

      Biochemical pharmacology
    86. 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
    87. GRACE MB; BUZARD GS; HUGHES MR; GORELANGTON RE
      DEGRADABLE DUMP OUTER PRIMERS IN MERGED TANDEM (M T)-NESTED PCR - LOW-COPY AND SINGLE-COPY DNA TARGET AMPLIFICATION/

      Analytical biochemistry (Print)
    88. SANDHOFF K; KOLTER T
      PROCESSING OF SPHINGOLIPID ACTIVATOR PROTEINS AND THE TOPOLOGY OF LYOSOMAL DIGESTION

      Acta Biochimica Polonica
    89. BEUTLER E; WEST C; GELBART T
      HLA-H AND ASSOCIATED PROTEINS IN PATIENTS WITH HEMOCHROMATOSIS

      Molecular medicine
    90. DRAGHIA R; LETOURNEUR F; DRUGAN C; MANICOM J; BLANCHOT C; KAHN A; POENARU L; CAILLAUD C
      METACHROMATIC LEUKODYSTROPHY - IDENTIFICATION OF THE FIRST DELETION IN EXON-1 AND OF 9 NOVEL POINT MUTATIONS IN THE ARYLSULFATASE-A GENE

      Human mutation
    91. DRUCKER L; GOLAN A; BOLES DJ; ELBEDOUR K; PROIA RL; NAVON R
      NOVEL HEXA MUTATION IN A BEDOUIN TAY-SACHS PATIENT ASSOCIATED WITH EXON SKIPPING AND REDUCED TRANSCRIPT LEVEL

      Human mutation
    92. 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
    93. DRUCKER L; HEMLI JA; NAVON R
      2 MUTATED HEXA ALLELES IN A DRUZE PATIENT WITH LATE-INFANTILE TAY-SACHS-DISEASE

      Human mutation
    94. RIBEIRO MG; PINTO RA; SUZUKI K; MIRANDA MCS
      2 NOVEL (1334DELC AND 1363G TO A, G455R) MUTATIONS IN EXON-12 OF THE BETA-HEXOSAMINIDASE ALPHA-CHAIN GENE IN 2 PORTUGUESE PATIENTS

      Human mutation
    95. 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
    96. 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
    97. PEREZ LF; TUTOR JC
      ASSAY OF SERUM PLASMA BETA-N-ACETYLHEXOSAMINIDASE ISOENZYMES BY HEAT INACTIVATION USING A CONTINUOUS SPECTROPHOTOMETRIC METHOD ADAPTED TO ACENTRIFUGAL ANALYZER/

      European journal of clinical chemistry and clinical biochemistry
    98. BERTONI C; APPOLLONI MG; STIRLING JL; LI SC; LI YT; ORLACCHIO A; BECCARI T
      STRUCTURAL ORGANIZATION AND EXPRESSION OF THE GENE FOR THE MOUSE G(M2) ACTIVATOR PROTEIN

      Mammalian genome
    99. TIFFT CJ; PROIA RL
      THE BETA-HEXOSAMINIDASE DEFICIENCY DISORDERS - DEVELOPMENT OF A CLINICAL PARADIGM IN THE MOUSE

      Annals of medicine
    100. OZKARA HA; TOPCU M; RENDA Y
      SANDHOFF DISEASE IN THE TURKISH POPULATION

      Brain & development


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Documento generato il 31/10/20 alle ore 15:48:22