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Results: 1-7 |
Results: 7
PROSPECTIVE-STUDY OF NEUROLOGICAL RESPONSES TO TREATMENT WITH MACROPHAGE-TARGETED GLUCOCEREBROSIDASE IN PATIENTS WITH TYPE-3 GAUCHERS-DISEASE
Authors: SCHIFFMANN R HEYES MP AERTS JM DAMBROSIA JM PATTERSON MC DEGRABA T PARKER CC ZIRZOW GC OLIVER K TEDESCHI G BRADY RO BARTON NW NAGINENI C KANESKI CR MURRAY GJ HIGGINS JJ TOURNAY A BANERJEE TK KREPS C SCOTT LJC MCKEE MA CRUTCHFIELD K FREI K
Citation: R. Schiffmann et al., PROSPECTIVE-STUDY OF NEUROLOGICAL RESPONSES TO TREATMENT WITH MACROPHAGE-TARGETED GLUCOCEREBROSIDASE IN PATIENTS WITH TYPE-3 GAUCHERS-DISEASE, Annals of neurology, 42(4), 1997, pp. 613-621
LEUKODYSTROPHY IN PATIENTS WITH OVARIAN DYSGENESIS
Authors: SCHIFFMANN R TEDESCHI G KINKEL RP TRAPP BD FRANK JA KANESKI CR BRADY RO BARTON NW NELSON L YANOVSKI JA
Citation: R. Schiffmann et al., LEUKODYSTROPHY IN PATIENTS WITH OVARIAN DYSGENESIS, Annals of neurology, 41(5), 1997, pp. 654-661
NIEMANN-PICK-C1-DISEASE GENE - HOMOLOGY TO MEDIATORS OF CHOLESTEROL HOMEOSTASIS
Authors: CARSTEA ED MORRIS JA COLEMAN KG LOFTUS SK ZHANG D CUMMINGS C GU J ROSENFELD MA PAVAN WJ KRIZMAN DB NAGLE J POLYMEROPOULOS MH STURLEY SL IOANNOU YA HIGGINS ME COMLY M COONEY A BROWN A KANESKI CR BLANCHETTEMACKIE EJ DWYER NK NEUFELD EB CHANG TY LISCUM L STRAUSS JF OHNO K ZEIGLER M CARMI R SOKOL J MARKIE D ONEILL RR VANDIGGELEN OP ELLEDER M PATTERSON MC BRADY RO VANIER MT PENTCHEV PG TAGLE DA
Citation: Ed. Carstea et al., NIEMANN-PICK-C1-DISEASE GENE - HOMOLOGY TO MEDIATORS OF CHOLESTEROL HOMEOSTASIS, Science, 277(5323), 1997, pp. 228-231
CHILDHOOD ATAXIA WITH DIFFUSE CENTRAL-NERVOUS-SYSTEM HYPOMYELINATION
Authors: SCHIFFMANN R MOLLER JR TRAPP BD SHIH HHL FARRER RG KATZ DA ALGER JR PARKER CC HAUER PE KANESKI CR HEISS JD KAYE EM QUARLES RH BRADY RO BARTON NW
Citation: R. Schiffmann et al., CHILDHOOD ATAXIA WITH DIFFUSE CENTRAL-NERVOUS-SYSTEM HYPOMYELINATION, Annals of neurology, 35(3), 1994, pp. 331-340
MUCOLIPIDOSIS-IV FIBROBLASTS SYNTHESIZE NORMAL AMOUNTS OF HYALURONIC-ACID
Authors: GOLDIN E IMAI Y KANESKI CR PENTCHEV PG BRADY RO HASCALL VC
Citation: E. Goldin et al., MUCOLIPIDOSIS-IV FIBROBLASTS SYNTHESIZE NORMAL AMOUNTS OF HYALURONIC-ACID, Journal of inherited metabolic disease, 17(5), 1994, pp. 545-553
PYRIDOXINE-RESPONSIVE HYPER-BETA-ALANINEMIA ASSOCIATED WITH COHENS SYNDROME
Authors: HIGGINS JJ KANESKI CR BERNARDINI I BRADY RO BARTON NW
Citation: Jj. Higgins et al., PYRIDOXINE-RESPONSIVE HYPER-BETA-ALANINEMIA ASSOCIATED WITH COHENS SYNDROME, Neurology, 44(9), 1994, pp. 1728-1732
HYDROLYSIS OF A NOVEL LYSOSOMOTROPIC ENZYME-SUBSTRATE FOR BETA-GALACTOSIDASE WITHIN INTACT-CELLS
Authors: KANESKI CR FRENCH SA BRESCIA MR HARBOUR MJ MILLER SPF
Citation: Cr. Kaneski et al., HYDROLYSIS OF A NOVEL LYSOSOMOTROPIC ENZYME-SUBSTRATE FOR BETA-GALACTOSIDASE WITHIN INTACT-CELLS, Journal of lipid research, 35(8), 1994, pp. 1441-1451
Risultati: 1-7 |