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Results: 1-10 |
Results: 10
GLYCOGEN-STORAGE-DISEASE TYPE-II - GENETIC AND BIOCHEMICAL-ANALYSIS OF NOVEL MUTATIONS IN INFANTILE PATIENTS FROM TURKISH ANCESTRY
Authors: HERMANS MMP KROOS MA SMEITINK JAM VANDERPLOEG AT KLEIJER WJ REUSER AJJ
Citation: Mmp. Hermans et al., GLYCOGEN-STORAGE-DISEASE TYPE-II - GENETIC AND BIOCHEMICAL-ANALYSIS OF NOVEL MUTATIONS IN INFANTILE PATIENTS FROM TURKISH ANCESTRY, Human mutation, 11(3), 1998, pp. 209-215
KNOCKOUT MOUSE MODEL OF GLYCOGEN-STORAGE-DISEASE TYPE-II - ENZYME THERAPY AT THE TEST
Authors: BIJVOET AGA VANDEKAMP EHM KROOS MA VANHIRTUM JP SCHONEVELD JLM DING JH YANG BZ VISSER P VERBEET MP OOSTRA BA REUSER AJJ VANDERPLOEG AT
Citation: Aga. Bijvoet et al., KNOCKOUT MOUSE MODEL OF GLYCOGEN-STORAGE-DISEASE TYPE-II - ENZYME THERAPY AT THE TEST, European journal of human genetics, 6, 1998, pp. 806-806
RECOMBINANT HUMAN ACID ALPHA-GLUCOSIDASE - HIGH-LEVEL PRODUCTION IN MOUSE MILK, BIOCHEMICAL CHARACTERISTICS, CORRECTION OF ENZYME DEFICIENCY IN GSDII KO MICE
Authors: BIJVOET AGA KROOS MA PIEPER FR VANDERVLIET M DEBOER HA VANDERPLOEG AT VERBEET MP REUSER AJJ
Citation: Aga. Bijvoet et al., RECOMBINANT HUMAN ACID ALPHA-GLUCOSIDASE - HIGH-LEVEL PRODUCTION IN MOUSE MILK, BIOCHEMICAL CHARACTERISTICS, CORRECTION OF ENZYME DEFICIENCY IN GSDII KO MICE, Human molecular genetics (Print), 7(11), 1998, pp. 1815-1824
GENERALIZED GLYCOGEN-STORAGE AND CARDIOMEGALY IN A KNOCKOUT MOUSE MODEL OF POMPE-DISEASE
Authors: BIJVOET AGA VANDEKAMP EHM KROOS MA DING JH YANG BZ VISSER P BAKKER CE VERBEET MP OOSTRA BA REUSER AJJ VANDERPLOEG AT
Citation: Aga. Bijvoet et al., GENERALIZED GLYCOGEN-STORAGE AND CARDIOMEGALY IN A KNOCKOUT MOUSE MODEL OF POMPE-DISEASE, Human molecular genetics, 7(1), 1998, pp. 53-62
DELETIONS SPANNING THE NEUROFIBROMATOSIS TYPE-1 GENE - IMPLICATIONS FOR GENOTYPE-PHENOTYPE CORRELATION IN NEUROFIBROMATOSIS TYPE-1
Authors: CNOSSEN MH VANDEREST MN BREUNING MH VANASPEREN CJ BRESLAUSIDERIUS EJ VANDERPLOEG AT DEGOEDEBOLDER A VANDENOUWELAND AMW HALLEY DJJ NIERMEIJER MF
Citation: Mh. Cnossen et al., DELETIONS SPANNING THE NEUROFIBROMATOSIS TYPE-1 GENE - IMPLICATIONS FOR GENOTYPE-PHENOTYPE CORRELATION IN NEUROFIBROMATOSIS TYPE-1, Human mutation, 9(5), 1997, pp. 458-464
EXPRESSION OF CDNA-ENCODED HUMAN ACID ALPHA-GLUCOSIDASE IN MILK OF TRANSGENIC MICE
Authors: BIJVOET AGA KROOS MA PIEPER FR DEBOER HA REUSER AJJ VANDERPLOEG AT VERBEET MP
Citation: Aga. Bijvoet et al., EXPRESSION OF CDNA-ENCODED HUMAN ACID ALPHA-GLUCOSIDASE IN MILK OF TRANSGENIC MICE, Biochimica et biophysica acta, N. Gene structure and expression, 1308(2), 1996, pp. 93-96
GLYCOGENOSIS TYPE-II (ACID MALTASE DEFICIENCY)
Authors: REUSER AJJ KROOS MA HERMANS MMP BIJVOET AGA VERBEET MP VANDIGGELEN OP KLEIJER WJ VANDERPLOEG AT
Citation: Ajj. Reuser et al., GLYCOGENOSIS TYPE-II (ACID MALTASE DEFICIENCY), Muscle & nerve, 1995, pp. 61-69
PRENATAL-DIAGNOSIS OF GLYCOGEN-STORAGE-DISEASE TYPE-II - ENZYME ASSAYOR MUTATION ANALYSIS
Authors: KLEIJER WJ VANDERKRAAN M KROOS MA GROENER JEM VANDIGGELEN OP REUSER AJJ VANDERPLOEG AT
Citation: Wj. Kleijer et al., PRENATAL-DIAGNOSIS OF GLYCOGEN-STORAGE-DISEASE TYPE-II - ENZYME ASSAYOR MUTATION ANALYSIS, Pediatric research, 38(1), 1995, pp. 103-106
TRANSGENIC EXPRESSION OF HUMAN LYSOSOMAL ALPHA-GLUCOSIDASE IN THE MAMMARY-GLAND - A FEASIBILITY STUDY FOR LARGE-SCALE PRODUCTION OF HUMAN RECOMBINANT ENZYME IN MILK FOR TREATMENT OF GLYCOGEN-STORAGE-DISEASE TYPE-II
Authors: BIJVOET AGA KROOS MA VANDERKAMP EHM OOSTRA BA VERBEET MP VANDERPLOEG AT REUSER AJJ
Citation: Aga. Bijvoet et al., TRANSGENIC EXPRESSION OF HUMAN LYSOSOMAL ALPHA-GLUCOSIDASE IN THE MAMMARY-GLAND - A FEASIBILITY STUDY FOR LARGE-SCALE PRODUCTION OF HUMAN RECOMBINANT ENZYME IN MILK FOR TREATMENT OF GLYCOGEN-STORAGE-DISEASE TYPE-II, American journal of human genetics, 57(4), 1995, pp. 1004-1004
SYNTHESIS AND IN-SITU LOCALIZATION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN MUSCLE OF AN UNUSUAL VARIANT OF GLYCOGEN-STORAGE-DISEASE TYPE-II
Authors: WILLEMSEN R VANDERPLOEG AT BUSCH HFM ZONDERVAN PE VANNOORDEN CJF REUSER AJJ
Citation: R. Willemsen et al., SYNTHESIS AND IN-SITU LOCALIZATION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN MUSCLE OF AN UNUSUAL VARIANT OF GLYCOGEN-STORAGE-DISEASE TYPE-II, Ultrastructural pathology, 17(5), 1993, pp. 515-527
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