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Results: 1-20 |
Results: 20
NAGLU MUTATIONS UNDERLYING SANFILIPPO SYNDROME TYPE-B
Authors: SCHMIDTCHEN A GREENBERG D ZHAO HG LI HH HUANG Y TIEU P ZHAO HZ CHENG SS ZHAO ZY WHITLEY CB DINATALE P NEUFELD EF
Citation: A. Schmidtchen et al., NAGLU MUTATIONS UNDERLYING SANFILIPPO SYNDROME TYPE-B, American journal of human genetics, 62(1), 1998, pp. 64-69
CARBOHYDRATE STRUCTURES OF RECOMBINANT HUMAN ALPHA-L-IDURONIDASE SECRETED BY CHINESE-HAMSTER OVARY CELLS
Authors: ZHAO KW FAULL KF KAKKIS ED NEUFELD EF
Citation: Kw. Zhao et al., CARBOHYDRATE STRUCTURES OF RECOMBINANT HUMAN ALPHA-L-IDURONIDASE SECRETED BY CHINESE-HAMSTER OVARY CELLS, The Journal of biological chemistry, 272(36), 1997, pp. 22758-22765
LONG-TERM AND HIGH-DOSE TRIALS OF ENZYME REPLACEMENT THERAPY IN THE CANINE MODEL OF MUCOPOLYSACCHARIDOSIS
Authors: KAKKIS ED MCENTEE MF SCHMIDTCHEN A NEUFELD EF WARD DA GOMPF RE KANIA S BEDOLLA C CHIEN SL SHULL RM
Citation: Ed. Kakkis et al., LONG-TERM AND HIGH-DOSE TRIALS OF ENZYME REPLACEMENT THERAPY IN THE CANINE MODEL OF MUCOPOLYSACCHARIDOSIS, Biochemical and molecular medicine, 58(2), 1996, pp. 156-167
OLIGOSACCHARIDES OF RECOMBINANT HUMAN ALPHA-L-IDURONIDASE SECRETED BYCHINESE-HAMSTER OVARY CELLS
Authors: ZHAO KW STEVENS RL FAULL KF KAKKIS ED NEUFELD EF
Citation: Kw. Zhao et al., OLIGOSACCHARIDES OF RECOMBINANT HUMAN ALPHA-L-IDURONIDASE SECRETED BYCHINESE-HAMSTER OVARY CELLS, The FASEB journal, 10(6), 1996, pp. 631-631
4 NOVEL MUTATIONS UNDERLYING MILD OR INTERMEDIATE FORMS OF ALPHA-L-IDURONIDASE DEFICIENCY (MPS IS AND MPS IH S)/
Authors: TIEU PT BACH G MATYNIA A HWANG M NEUFELD EF
Citation: Pt. Tieu et al., 4 NOVEL MUTATIONS UNDERLYING MILD OR INTERMEDIATE FORMS OF ALPHA-L-IDURONIDASE DEFICIENCY (MPS IS AND MPS IH S)/, Human mutation, 6(1), 1995, pp. 55-59
GENE-THERAPY TOWARD HURLERS SYNDROME
Authors: HUANG MM KAKKIS E SHULL RM NEUFELD EF KOHN DB
Citation: Mm. Huang et al., GENE-THERAPY TOWARD HURLERS SYNDROME, Journal of cellular biochemistry, 1995, pp. 366-366
LONG-TERM AND HIGH-DOSE ENZYME REPLACEMENT THERAPY IN THE CANINE MUCOPOLYSACCHARIDOSIS-I MODEL
Authors: KAKKIS ED SHULL RM MCENTEE MF SCHMIDTCHEN A NEUFELD EF
Citation: Ed. Kakkis et al., LONG-TERM AND HIGH-DOSE ENZYME REPLACEMENT THERAPY IN THE CANINE MUCOPOLYSACCHARIDOSIS-I MODEL, American journal of human genetics, 57(4), 1995, pp. 193-193
THE GENE ENCODING ALPHA-N-ACETYLGLUCOSAMINIDASE AND MUTATIONS UNDERLYING SANFILIPPO-B SYNDROME
Authors: ZHAO HG LI HH SCHMIDTCHEN A BACH G NEUFELD EF
Citation: Hg. Zhao et al., THE GENE ENCODING ALPHA-N-ACETYLGLUCOSAMINIDASE AND MUTATIONS UNDERLYING SANFILIPPO-B SYNDROME, American journal of human genetics, 57(4), 1995, pp. 1059-1059
RETROVIRAL-MEDIATED HUMAN IDURONIDASE GENE-TRANSFER INTO BONE-MARROW CELLS - POTENTIAL GENE-THERAPY FOR HURLERS SYNDROME
Authors: HUANG MM KAKKIS E NEUFELD EF KOHN DB
Citation: Mm. Huang et al., RETROVIRAL-MEDIATED HUMAN IDURONIDASE GENE-TRANSFER INTO BONE-MARROW CELLS - POTENTIAL GENE-THERAPY FOR HURLERS SYNDROME, American journal of human genetics, 57(4), 1995, pp. 1400-1400
A MUTANT STOP CODON (TAG) IN THE IDUA GENE IS USED AS AN ACCEPTOR SPLICE-SITE IN A PATIENT WITH HURLER-SYNDROME (MPS IH)
Authors: TIEU PT MENON K NEUFELD EF
Citation: Pt. Tieu et al., A MUTANT STOP CODON (TAG) IN THE IDUA GENE IS USED AS AN ACCEPTOR SPLICE-SITE IN A PATIENT WITH HURLER-SYNDROME (MPS IH), Human mutation, 3(3), 1994, pp. 333-336
OVEREXPRESSION OF THE HUMAN LYSOSOMAL-ENZYME ALPHA-L-IDURONIDASE IN CHINESE-HAMSTER OVARY CELLS
Authors: KAKKIS ED MATYNIA A JONAS AJ NEUFELD EF
Citation: Ed. Kakkis et al., OVEREXPRESSION OF THE HUMAN LYSOSOMAL-ENZYME ALPHA-L-IDURONIDASE IN CHINESE-HAMSTER OVARY CELLS, Protein expression and purification, 5(3), 1994, pp. 225-232
EVIDENCE FOR DEGRADATION OF MESSENGER-RNA ENCODING ALPHA-L-IDURONIDASE IN HURLER FIBROBLAST WITH PREMATURE TERMINATION ALLELES
Authors: MENON KP NEUFELD EF
Citation: Kp. Menon et Ef. Neufeld, EVIDENCE FOR DEGRADATION OF MESSENGER-RNA ENCODING ALPHA-L-IDURONIDASE IN HURLER FIBROBLAST WITH PREMATURE TERMINATION ALLELES, Cellular and molecular biology, 40(7), 1994, pp. 999-1005
TREATMENT OF CANINE MPS-I WITH RECOMBINANT HUMAN ALPHA-L-IDURONIDASE
Authors: KAKKIS ED SHULL RM MISHU L CHIEN SL JONAS AJ NEUFELD EF
Citation: Ed. Kakkis et al., TREATMENT OF CANINE MPS-I WITH RECOMBINANT HUMAN ALPHA-L-IDURONIDASE, Pediatric research, 35(4), 1994, pp. 10000152-10000152
ENZYME REPLACEMENT IN A CANINE MODEL OF HURLER-SYNDROME
Authors: SHULL RM KAKKIS ED MCENTEE MF KANIA SA JONAS AJ NEUFELD EF
Citation: Rm. Shull et al., ENZYME REPLACEMENT IN A CANINE MODEL OF HURLER-SYNDROME, Proceedings of the National Academy of Sciences of the United Statesof America, 91(26), 1994, pp. 12937-12941
MUTATION IN SCHEIE SYNDROME (MPS-IS) - A G-]A TRANSITION CREATES NEW SPLICE SITE IN INTRON 5 OF ONE IDUA ALLELE
Authors: MOSKOWITZ SM TIEU PT NEUFELD EF
Citation: Sm. Moskowitz et al., MUTATION IN SCHEIE SYNDROME (MPS-IS) - A G-]A TRANSITION CREATES NEW SPLICE SITE IN INTRON 5 OF ONE IDUA ALLELE, Human mutation, 2(2), 1993, pp. 141-144
A DELETION INSERTION MUTATION IN THE IDUA GENE IN A LIBYAN JEWISH PATIENT WITH HURLER SYNDROME (MUCOPOLYSACCHARIDOSIS IH)
Authors: MOSKOWITZ SM TIEU PT NEUFELD EF
Citation: Sm. Moskowitz et al., A DELETION INSERTION MUTATION IN THE IDUA GENE IN A LIBYAN JEWISH PATIENT WITH HURLER SYNDROME (MUCOPOLYSACCHARIDOSIS IH), Human mutation, 2(1), 1993, pp. 71-73
TREATMENT OF CANINE MPS 1 USING RECOMBINANT ALPHA-L-IDURONIDASE
Authors: KAKKIS ED JONAS AJ SHULL RM MISHU L NEUFELD EF
Citation: Ed. Kakkis et al., TREATMENT OF CANINE MPS 1 USING RECOMBINANT ALPHA-L-IDURONIDASE, American journal of human genetics, 53(3), 1993, pp. 102-102
NOVEL MUTATIONS IN THE GENE ENCODING ALPHA-L-IDURONIDASE IN MUCOPOLYSACCHARIDOSIS-I (MPS I)
Authors: TIEU PT MATYNIA A BACH G HWANG M DLOTT B NEUFELD EF
Citation: Pt. Tieu et al., NOVEL MUTATIONS IN THE GENE ENCODING ALPHA-L-IDURONIDASE IN MUCOPOLYSACCHARIDOSIS-I (MPS I), American journal of human genetics, 53(3), 1993, pp. 955-955
MOLECULAR ANALYSIS OF HURLER-SYNDROME IN DRUZE AND MUSLIM ARAB PATIENTS IN ISRAEL - MULTIPLE ALLELIC MUTATIONS OF THE IDUA GENE IN A SMALL GEOGRAPHIC AREA
Authors: BACH G MOSKOWITZ SM TIEU PT MATYNIA A NEUFELD EF
Citation: G. Bach et al., MOLECULAR ANALYSIS OF HURLER-SYNDROME IN DRUZE AND MUSLIM ARAB PATIENTS IN ISRAEL - MULTIPLE ALLELIC MUTATIONS OF THE IDUA GENE IN A SMALL GEOGRAPHIC AREA, American journal of human genetics, 53(2), 1993, pp. 330-338
CLONING AND CHARACTERIZATION OF CDNA-ENCODING CANINE ALPHA-L-IDURONIDASE - MESSENGER-RNA DEFICIENCY IN MUCOPOLYSACCHARIDOSIS-I DOG
Authors: STOLTZFUS LJ SOSAPINEDA B MOSKOWITZ SM MENON KP DLOTT B HOOPER L TEPLOW DB SHULL RM NEUFELD EF
Citation: Lj. Stoltzfus et al., CLONING AND CHARACTERIZATION OF CDNA-ENCODING CANINE ALPHA-L-IDURONIDASE - MESSENGER-RNA DEFICIENCY IN MUCOPOLYSACCHARIDOSIS-I DOG, The Journal of biological chemistry, 267(10), 1992, pp. 6570-6575
Risultati: 1-20 |