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La ricerca find articoli where soggetti phrase all words 'GM2 GANGLIOSIDOSIS' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 91 riferimenti
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    1. 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
    2. Salman, MS; Clarke, JTR; Midroni, G; Waxman, MB
      Peripheral and autonomic nervous system involvement in chronic GM2-gangliosidosis

      JOURNAL OF INHERITED METABOLIC DISEASE
    3. Sandhoff, K
      The G(M2)-gangliosidoses and the elucidation of the beta-hexosaminidase system

      TAY-SACHS DISEASE
    4. Kolodny, EH
      Molecular genetics of the beta-hexosaminidase isoenzymes: An introduction

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

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

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

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

      TAY-SACHS DISEASE
    9. Schepers, U; Lemm, T; Herzog, V; Sandhoff, K
      Characterization of regulatory elements in the 5 '-flanking region of the GM2 activator gene

      BIOLOGICAL CHEMISTRY
    10. Cordeiro, P; Hechtman, P; Kaplan, F
      The G(M2) gangliosidoses databases: Allelic variation at the HEXA, HEKB, and GM2A gene loci

      GENETICS IN MEDICINE
    11. 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
    12. Wright, CS; Li, SC; Rastinejad, F
      Crystal structure of human GM2-activator protein with a novel beta-cup topology

      JOURNAL OF MOLECULAR BIOLOGY
    13. Hou, YM; Vocadlo, D; Withers, S; Mahuran, D
      Role of beta Arg(211) in the active site of human beta-hexosaminidase B

      BIOCHEMISTRY
    14. Trifiletti, RR; Packard, AM
      Metabolic disorders presenting with behavioral symptoms in the school-agedchild

      CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
    15. Mahuran, DJ
      Biochemical consequences of mutations causing the GM2 gangliosidoses

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    16. 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
    17. Forster, A; Heuss, D; Claus, D
      Hexosaminidase deficiency is a differential diagnosis of spinocerebellar degeneration

      NERVENARZT
    18. Perez, LF; Ribeiro, HM; Casal, JA; Pinto, RA; Miranda, MCS; Tutor, JC
      Thermodynamic characterisation of the mutated isoenzyme A of beta-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant

      CLINICA CHIMICA ACTA
    19. Li, YT; Li, SC
      Enzymatic hydrolysis of glycosphingolipids

      ANALYTICAL BIOCHEMISTRY
    20. 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
    21. 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
    22. Ozkara, HA; Navon, R
      At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population

      MOLECULAR GENETICS AND METABOLISM
    23. 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
    24. 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
    25. SCHUTTE CG; LEMM T; GLOMBITZA GJ; SANDHOFF K
      COMPLETE LOCALIZATION OF DISULFIDE BONDS IN GM2 ACTIVATOR PROTEIN

      Protein science
    26. MACQUEEN GM; ROSEBUSH PI; MAZUREK MF
      NEUROPSYCHIATRIC ASPECTS OF THE ADULT VARIANT OF TAY-SACHS-DISEASE

      The Journal of neuropsychiatry and clinical neurosciences
    27. BECK M; SIEBER N; GOEBEL HH
      PROGRESSIVE CEREBELLAR-ATAXIA IN JUVENILE GM(2)-GANGLIOSIDOSIS TYPE SANDHOFF

      European journal of pediatrics
    28. HARTMANN A; POGARELL O; OERTEL WH
      SECONDARY DYSTONIAS

      Journal of neurology
    29. ASFAW B; SCHINDLER D; LEDVINOVA J; CERNY B; SMID F; CONZELMANN E
      DEGRADATION OF BLOOD-GROUP-A GLYCOLIPID A-6-2 BY NORMAL AND MUTANT HUMAN SKIN FIBROBLASTS

      Journal of lipid research
    30. 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
    31. 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
    32. SANDHOFF K; KOLTER T
      PROCESSING OF SPHINGOLIPID ACTIVATOR PROTEINS AND THE TOPOLOGY OF LYOSOMAL DIGESTION

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

      Human mutation
    34. 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
    35. 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
    36. YADAO F; HECHTMAN P; KAPLAN F
      FORMATION OF A TERNARY COMPLEX BETWEEN GM(2) ACTIVATOR PROTEIN, GM(2)GANGLIOSIDE AND HEXOSAMINIDASE-A

      Biochimica et biophysica acta. Protein structure and molecular enzymology
    37. 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
    38. SUZUKI K; SANGO K; PROIA RL; LANGAMAN C
      MICE DEFICIENT IN ALL FORMS OF LYSOSOMAL BETA-HEXOSAMINIDASE SHOW MUCOPOLYSACCHARIDOSIS-LIKE PATHOLOGY

      Journal of neuropathology and experimental neurology
    39. CAO ZM; PETROULAKIS E; SALO T; TRIGGSRAINE B
      BENIGN HEXA MUTATIONS, C739T(R247W) AND C745T(R249W), CAUSE BETA-HEXOSAMINIDASE A PSEUDODEFICIENCY BY REDUCING THE ALPHA-SUBUNIT PROTEIN-LEVELS

      The Journal of biological chemistry
    40. 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
    41. MANOR I; HERMESH H; MUNITZ H; WEIZMAN A
      NEUROLEPTIC MALIGNANT SYNDROME WITH GANGLIOSIDOSIS TYPE-II

      Biological psychiatry
    42. 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
    43. PHANEUF D; WAKAMATSU N; HUANG JQ; BOROWSKI A; PETERSON AC; FORTUNATO SR; RITTER G; IGDOURA SA; MORALES CR; BENOIT G; AKERMAN BR; LECLERC D; HANAI N; MARTH JD; TRASLER JM; GRAVEL RA
      DRAMATICALLY DIFFERENT PHENOTYPES IN MOUSE MODELS OF HUMAN TAY-SACHS AND SANDHOFF DISEASES

      Human molecular genetics
    44. 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
    45. MARCH PA
      DEGENERATIVE BRAIN DISEASE

      The Veterinary clinics of North America. Small animal practice
    46. SCHNORF H; BOSSHARD NU; GITZELMANN R; SPYCHER MA; ISLER P; WAESPE W
      ADULT FORM OF G(M2) GANGLIOSIDOSIS - 3 SI BLINGS WITH HEXOSAMINIDASE-A AND HEXOSAMINIDASE-B DEFICIENCY (SANDHOFF DISEASE) AND REVIEW OF THELITERATURE

      Schweizerische medizinische Wochenschrift
    47. HITTMAIR K; WIMBERGER D; BERNERT G; MALLEK R; SCHINDLER EG
      MRI IN A CASE OF SANDHOFFS DISEASE

      Neuroradiology
    48. DEGASPERI R; SOSA MAG; BATTISTINI S; YERETSIAN J; RAGHAVAN S; ZELNIK N; LESHINSKY E; KOLODNY EH
      LATE-ONSET G(M2) GANGLIOSIDOSIS - ASHKENAZI JEWISH FAMILY WITH AN EXON-5 MUTATION (TYR(180)-]HIS) IN THE HEX-A ALPHA-CHAIN GENE

      Neurology
    49. RIBEIRO MG; SONIN T; PINTO RA; FONTES A; RIBEIRO H; PINTO E; PALMEIRA MM; SAMIRANDA MC
      CLINICAL, ENZYMATIC, AND MOLECULAR CHARACTERIZATION OF A PORTUGUESE FAMILY WITH A CHRONIC FORM OF G(M2)-GANGLIOSIDOSIS B1 VARIANT

      Journal of Medical Genetics
    50. WU YY; SONNINO S; LI YT; LI SC
      CHARACTERIZATION OF AN ALTERNATIVELY SPLICED G(M2) ACTIVATOR PROTEIN,G(M2A) PROTEIN - AN ACTIVATOR PROTEIN WHICH STIMULATES THE ENZYMATIC-HYDROLYSIS OF N-ACETYLNEURAMINIC ACID, BUT NOT N-ACETYLGALACTOSAMINE, FROM G(M2)

      The Journal of biological chemistry
    51. AGMON V; KHOSRAVI R; MARCHESINI S; DINUR T; DAGAN A; GATT S; NAVON R
      INTRACELLULAR DEGRADATION OF SULFORHODAMINE-G(M1) - USE FOR A FLUORESCENCE-BASED CHARACTERIZATION OF G(M2)-GANGLIOSIDOSIS VARIANTS IN FIBROBLASTS AND WHITE BLOOD-CELLS

      Clinica chimica acta
    52. TSE R; VAVOUGIOS G; HOU YM; MAHURAN DJ
      IDENTIFICATION OF AN ACTIVE ACIDIC RESIDUE IN THE CATALYTIC SITE OF BETA-HEXOSAMINIDASE

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

      Biochemistry
    54. RICHARD MM; ERENBERG G; TRIGGSRAINE BL
      AN A-TO-G MUTATION AT THE -POSITION OF INTRON-8 OF THE HEXA GENE IS ASSOCIATED WITH EXON-8 SKIPPING AND TAY-SACHS-DISEASE(3)

      Biochemical and molecular medicine
    55. PELEG L; MELTZER F; KARPATI M; GOLDMAN B
      GM2 GANGLIOSIDOSIS B1 VARIANT - BIOCHEMICAL AND MOLECULAR CHARACTERIZATION OF HEXOSAMINIDASE-A

      Biochemical and molecular medicine
    56. RIBEIRO MG; PINTO R; MIRANDA MCS; SUZUKI K
      TAY-SACHS-DISEASE - INTRON-7 SPLICE JUNCTION MUTATION IN 2 PORTUGUESEPATIENTS

      Biochimica et biophysica acta. Molecular basis of disease
    57. PHILIPPART M; CARREL RE; LANDING BH
      TAY-SACHS-DISEASE WITH ATYPICAL CHRONIC COURSE AND LIMITED BRAIN STORAGE - ALPHA-LOCUS HEXOSAMINIDASE GENETIC COMPOUND

      Neurochemical research
    58. LEMOS M; PINTO R; RIBEIRO G; RIBEIRO H; LOPES L; MIRANDA MCS
      PRENATAL-DIAGNOSIS OF GM(2)-GANGLIOSIDOSIS B1 VARIANT

      Prenatal diagnosis
    59. KROLL RA; PAGEL MA; ROMANGOLDSTEIN S; BARKOVICH AJ; DAGOSTINO AN; NEUWELT EA
      WHITE-MATTER CHANGES ASSOCIATED WITH FELINE G(M2) GANGLIOSIDOSIS (SANDHOFF DISEASE) - CORRELATION OF MR FINDINGS WITH PATHOLOGICAL AND ULTRASTRUCTURAL ABNORMALITIES

      American journal of neuroradiology
    60. ROSEBUSH PI; MACQUEEN GM; CLARKE JTR; CALLAHAN JW; STRASBERG PM; MAZUREK MF
      LATE-ONSET TAY-SACHS-DISEASE PRESENTING AS CATATONIC SCHIZOPHRENIA - DIAGNOSTIC AND TREATMENT ISSUES

      The Journal of clinical psychiatry
    61. NEUWELT EA; PAGEL MA; GELLER A; MULDOON LL
      GENE REPLACEMENT THERAPY IN THE CENTRAL-NERVOUS-SYSTEM - VIRAL VECTOR-MEDIATED THERAPY OF GLOBAL NEURODEGENERATIVE DISEASE

      Behavioral and brain sciences
    62. NAVON R; KHOSRAVI R; KORCZYN T; MASSON M; SONNINO S; FARDEAU M; EYMARD B; LEFEVRE M; TURPIN JC; RONDOT P; BAUMANN N
      A NEW MUTATION IN THE HEXA GENE ASSOCIATED WITH A SPINAL MUSCULAR-ATROPHY PHENOTYPE

      Neurology
    63. SCHNORF H; GITZELMANN R; BOSSHARD NU; SPYCHER M; WAESPE W
      EARLY AND SEVERE SENSORY LOSS IN 3 ADULT SIBLINGS WITH HEXOSAMINIDASE-A AND HEXOSAMINIDASE-B DEFICIENCY (SANDHOFF-DISEASE)

      Journal of Neurology, Neurosurgery and Psychiatry
    64. LI SC; WU YY; SUGIYAMA E; TAKI T; KASAMA T; CASELLATO R; SONNINO S; LI YT
      SPECIFIC RECOGNITION OF N-ACETYLNEURAMINIC ACID IN THE G(M2) EPITOPE BY HUMAN G(M2) ACTIVATOR PROTEIN

      The Journal of biological chemistry
    65. NATOWICZ MR; STOLER JM; PRENCE EM; LISCUM L
      MARKED HETEROGENEITY IN NIEMANN-PICK DISEASE, TYPE-C - CLINICAL AND ULTRASTRUCTURAL FINDINGS

      Clinical pediatrics
    66. MAHURAN DJ
      BETA-HEXOSAMINIDASE - BIOSYNTHESIS AND PROCESSING OF THE NORMAL ENZYME, AND IDENTIFICATION OF MUTATIONS CAUSING JEWISH TAY-SACHS-DISEASE

      Clinical biochemistry
    67. INZELBERG R; KORCZYN AD
      PARKINSONISM IN ADULT-ONSET GM2 GANGLIOSIDOSIS

      Movement disorders
    68. GOODMAN AB
      MEDICAL CONDITIONS IN ASHKENAZI SCHIZOPHRENIC PEDIGREES

      Schizophrenia bulletin
    69. KLEIMAN FE; DEKREMER RD; DERAMIREZ AO; GRAVEL RA; ARGARANA CE
      SANDHOFF DISEASE IN ARGENTINA - HIGH-FREQUENCY OF A SPLICE-SITE MUTATION IN THE HEXB GENE AND CORRELATION BETWEEN ENZYME AND DNA-BASED TESTS FOR HETEROZYGOTE DETECTION

      Human genetics
    70. HARA Y; IOANNOU P; DROUSIOTOU A; STYLIANIDOU G; ANASTASIADOU V; SUZUKI K
      MUTATION ANALYSIS OF A SANDHOFF DISEASE PATIENT IN THE MARONITE COMMUNITY IN CYPRUS

      Human genetics
    71. NOVAK A; LOWDEN JA
      G(M2) GANGLIOSIDE ACTIVATOR OCCURS IN MULTIPLE FORMS

      Biochimica et biophysica acta (G). General subjects
    72. NOVAK A; CALLAHAN JW; LOWDEN JA
      CLASSIFICATION OF DISORDERS OF G(M2) GANGLIOSIDE HYDROLYSIS USING H-3G(M2) AS SUBSTRATE

      Biochimica et biophysica acta (G). General subjects
    73. TANAKA A; SAKAZAKI H; MURAKAMI H; ISSHIKI G; SUZUKI K
      MOLECULAR-GENETICS OF TAY-SACHS-DISEASE IN JAPAN

      Journal of inherited metabolic disease
    74. LECOZ P; ASSOULINE E; VANIER MT; GOUTIERES F; MIKOL J; WOIMANT F; PINARD JM; AICARDI J; HAGUENAU M
      GM2-GANGLIOSIDOSIS VARIANT B1 - A FAMILY WITH LATE JUVENILE-ONSET

      Revue neurologique
    75. KOELFEN W; FREUND M; JASCHKE W; KOENIG S; SCHULTZE C
      GM-2 GANGLIOSIDOSIS (SANDHOFFS DISEASE) - 2-YEAR FOLLOW-UP BY MRI

      Neuroradiology
    76. SUZUKI K
      SAUL-R-KOREY-LECTURE - MOLECULAR-GENETICS OF TAY-SACHS AND RELATED DISORDERS - A PERSONAL ACCOUNT

      Journal of neuropathology and experimental neurology
    77. WU YY; LOCKYER JM; SUGIYAMA E; PAVLOVA NV; LI YT; LI SC
      EXPRESSION AND SPECIFICITY OF HUMAN G(M2) ACTIVATOR PROTEIN

      The Journal of biological chemistry
    78. DRUCKER L; NAVON R
      TAY-SACHS-DISEASE IN AN ISRAELI ARAB FAMILY - TRY26-] STOP IN THE ALPHA-SUBUNIT OF HEXOSAMINIDASE-A

      Human mutation
    79. HECHTMAN P; KAPLAN F
      TAY-SACHS-DISEASE SCREENING AND DIAGNOSIS - EVOLVING TECHNOLOGIES

      DNA and cell biology
    80. SAGHERIAN C; POROSZLAY S; VAVOUGIOS G; MAHURAN D
      PROTEOLYTIC PROCESSING OF THE PRO-BETA CHAIN OF BETA-HEXOSAMINIDASE OCCURS AT BASIC RESIDUES CONTAINED WITHIN AN EXPOSED DISULFIDE LOOP STRUCTURE

      Biochemistry and cell biology
    81. BENNINGER C; ULLRICHBOTT B; ZHAN SS; SCHMITT HP
      G(M2D) GANGLIOSIDOSIS-B(1) VARIANT IN A BOY OF GERMAN HUNGARIAN DESCENT

      Clinical neuropathology
    82. SAKURABA H; ITOH K; KOTANI M; TAI T; YAMADA H; KUROSAWA K; KUROKI Y; SUZUKI H; UTSUNOMIYA T; INOUE H; SUZUKI Y
      PRENATAL-DIAGNOSIS OF G(M2)-GANGLIOSIDOSIS - IMMUNOFLUORESCENCE ANALYSIS OF GANGLIOSIDE G(M2) IN CULTURED AMNIOCYTES BY CONFOCAL LASER-SCANNING MICROSCOPY

      Brain & development
    83. VANIER MT; FERLINZ K; ROUSSON R; DUTHEL S; LOUISOT P; SANDHOFF K; SUZUKI K
      DELETION OF ARGININE (608) IN ACID SPHINGOMYELINASE IS THE PREVALENT MUTATION AMONG NIEMANN-PICK DISEASE TYPE-B PATIENTS FROM NORTHERN AFRICA

      Human genetics
    84. RIBEIRO MG; PINTO R; OLIVEIRA P; MIRANDA MCS
      IDENTIFICATION OF GM2-GANGLIOSIDOSIS B1 VARIANT CARRIERS

      Journal of inherited metabolic disease
    85. KABACK M; LIMSTEELE J; DABHOLKAR D; BROWN D; LEVY N; ZEIGER K
      TAY-SACHS-DISEASE - CARRIER SCREENING, PRENATAL-DIAGNOSIS, AND THE MOLECULAR ERA - AN INTERNATIONAL PERSPECTIVE, 1970 TO 1993

      JAMA, the journal of the American Medical Association
    86. STREIFLER JY; GORNISH M; HADAR H; GADOTH N
      BRAIN IMAGING IN LATE-ONSET GM(2) GANGLIOSIDOSIS

      Neurology
    87. SHUKRY A; GOLDMAN B; SHIHAB S; PELEG L
      PRENATAL AND POSTNATAL STUDIES OF A LATE INFANTILE GM2 GANGLIOSIDOSISIN A FAMILY OF SYRIAN ORIGIN - A POSSIBLE B1 VARIANT

      Israel journal of medical sciences
    88. BOLHUIS PA; PONNE NJ; BIKKER H; BAAS F; DEJONG JMBV
      MOLECULAR-BASIS OF AN ADULT FORM OF SANDHOFF DISEASE - SUBSTITUTION OF GLUTAMINE FOR ARGININE AT POSITION 505 OF THE BETA-CHAIN OF BETA-HEXOSAMINIDASE RESULTS IN A LABILE ENZYME

      Biochimica et biophysica acta
    89. TANAKA A; SAKURABA H; ISSHIKI G; SUZUKI K
      THE MAJOR MUTATION AMONG JAPANESE PATIENTS WITH INFANTILE TAY-SACHS DISEASE - A G-TO-T TRANSVERSION AT THE ACCEPTOR SITE OF INTRON 5 OF THEBETA-HEXOSAMINIDASE ALPHA-GENE

      Biochemical and biophysical research communications
    90. CAO Z; NATOWICZ MR; KABACK MM; LIMSTEELE JST; PRENCE EM; BROWN D; CHABOT T; TRIGGSRAINE BL
      A SECOND MUTATION ASSOCIATED WITH APPARENT BETA-HEXOSAMINIDASE-A PSEUDODEFICIENCY - IDENTIFICATION AND FREQUENCY ESTIMATION

      American journal of human genetics
    91. BROWN CA; MAHURAN DJ
      BETA-HEXOSAMINIDASE ISOZYMES FROM CELLS COTRANSFECTED WITH ALPHA-CDNAAND BETA-CDNA CONSTRUCTS - ANALYSIS OF THE ALPHA-SUBUNIT MISSENSE MUTATION ASSOCIATED WITH THE ADULT FORM OF TAY-SACHS-DISEASE

      American journal of human genetics


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Documento generato il 24/01/21 alle ore 05:26:15