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Results: 1-25 | 26-34
Results: 1-25/34
THE AFRICAN ORIGIN OF THE COMMON MUTATION IN AFRICAN-AMERICAN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II
Authors: BECKER JA VLACH J RABEN N NAGARAJU K ADAMS EM HERMANS MM REUSER AJJ BROOKS SS TIFFT CJ HIRSCHHORN R HUIE ML NICOLINO M PLOTZ PH
Citation: Ja. Becker et al., THE AFRICAN ORIGIN OF THE COMMON MUTATION IN AFRICAN-AMERICAN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II, American journal of human genetics, 62(4), 1998, pp. 991-994
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
ADENOVIRUS-MEDIATED TRANSFER OF THE ACID ALPHA-GLUCOSIDASE GENE INTO FIBROBLASTS, MYOBLASTS AND MYOTUBES FROM PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II LEADS TO HIGH-LEVEL EXPRESSION OF ENZYME AND CORRECTS GLYCOGEN ACCUMULATION
Authors: NICOLINO MP PUECH JP KREMER EJ REUSER AJJ MBEBI C VERDIERESAHUQUE M KAHN A POENARU L
Citation: Mp. Nicolino et al., ADENOVIRUS-MEDIATED TRANSFER OF THE ACID ALPHA-GLUCOSIDASE GENE INTO FIBROBLASTS, MYOBLASTS AND MYOTUBES FROM PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II LEADS TO HIGH-LEVEL EXPRESSION OF ENZYME AND CORRECTS GLYCOGEN ACCUMULATION, Human molecular genetics (Print), 7(11), 1998, pp. 1695-1702
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
GENOTYPE OF ADULT-ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II IN ASYMPTOMATIC PATIENTS
Authors: AUSEMS MGEM VANDIGGELEN OP SINKE RJ REUSER AJJ WOKKE JHJ
Citation: Mgem. Ausems et al., GENOTYPE OF ADULT-ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II IN ASYMPTOMATIC PATIENTS, Neurology, 50(4), 1998, pp. 2099-2099
GLYCOGEN-STORAGE-DISEASE TYPE-II - IDENTIFICATION OF A DINUCLEOTIDE DELETION AND A COMMON MISSENSE MUTATION IN THE LYSOSOMAL ALPHA-GLUCOSIDASE GENE
Authors: KROOS MA VANLEENEN D VERBIEST J REUSER AJJ HERMANS MMP
Citation: Ma. Kroos et al., GLYCOGEN-STORAGE-DISEASE TYPE-II - IDENTIFICATION OF A DINUCLEOTIDE DELETION AND A COMMON MISSENSE MUTATION IN THE LYSOSOMAL ALPHA-GLUCOSIDASE GENE, Clinical genetics, 53(5), 1998, pp. 379-382
2 EXTREMES OF THE CLINICAL SPECTRUM OF GLYCOGEN-STORAGE-DISEASE TYPE-II IN ONE FAMILY - A MATTER OF GENOTYPE
Authors: KROOS MA VANDERKRAAN M VANDIGGELEN OP KLEIJER WJ REUSER AJJ
Citation: Ma. Kroos et al., 2 EXTREMES OF THE CLINICAL SPECTRUM OF GLYCOGEN-STORAGE-DISEASE TYPE-II IN ONE FAMILY - A MATTER OF GENOTYPE, Human mutation, 9(1), 1997, pp. 17-22
A NOVEL ACID ALPHA-GLUCOSIDASE MUTATION IDENTIFIED IN A PAKISTANI FAMILY WITH GLYCOGEN-STORAGE-DISEASE TYPE-II
Authors: KROOS MA WAITFIELD AE JOOSSE M WINCHESTER B REUSER AJJ MACDERMOT KD
Citation: Ma. Kroos et al., A NOVEL ACID ALPHA-GLUCOSIDASE MUTATION IDENTIFIED IN A PAKISTANI FAMILY WITH GLYCOGEN-STORAGE-DISEASE TYPE-II, Journal of inherited metabolic disease, 20(4), 1997, pp. 556-558
MUTATION DETECTION IN GLYCOGEN-STORAGE-DISEASE TYPE-II BY RT-PCR AND AUTOMATED SEQUENCING
Authors: HERMANS MMP VANLEENEN D KROOS MA REUSER AJJ
Citation: Mmp. Hermans et al., MUTATION DETECTION IN GLYCOGEN-STORAGE-DISEASE TYPE-II BY RT-PCR AND AUTOMATED SEQUENCING, Biochemical and biophysical research communications, 241(2), 1997, pp. 414-418
LYSOSOMAL ALPHA-GLUCOSIDASE - CELL-SPECIF IC PROCESSING AND ALTERED MATURATION IN HT-29 COLON-CANCER CELLS
Authors: FRANCI C EGEA G ARRIBAS R REUSER AJJ REAL FX
Citation: C. Franci et al., LYSOSOMAL ALPHA-GLUCOSIDASE - CELL-SPECIF IC PROCESSING AND ALTERED MATURATION IN HT-29 COLON-CANCER CELLS, Biochemical journal, 314, 1996, pp. 33-40
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
HUMAN ALPHA-N-ACETYLGALACTOSAMINIDASE (ALPHA-NAGA) DEFICIENCY - NEW MUTATIONS AND THE PARADOX BETWEEN GENOTYPE AND PHENOTYPE
Authors: KEULEMANS JLM REUSER AJJ KROOS MA WILLEMSEN R HERMANS MMP VANDENOUWELAND AMW DEJONG JGN WEVERS RA RENIER WO SCHINDLER D COLL MJ CHABAS A SAKURABA H SUZUKI Y VANDIGGELEN OP
Citation: Jlm. Keulemans et al., HUMAN ALPHA-N-ACETYLGALACTOSAMINIDASE (ALPHA-NAGA) DEFICIENCY - NEW MUTATIONS AND THE PARADOX BETWEEN GENOTYPE AND PHENOTYPE, Journal of Medical Genetics, 33(6), 1996, pp. 458-464
ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY IN MALES OF A 5-GENERATION FAMILY, CAUSED BY AN A208T MUTATION
Authors: VANDIGGELEN OP ZAREMBA J HE W KEULEMANS JLM BOER AM REUSER AJJ AUSEMS MGEM SMEITINK JAM KOWALCZYK J PRONICKA E ROKICKI D TARNOWSKADZIDUSZKO E KNEPPERS ALJ BAKKER E
Citation: Op. Vandiggelen et al., ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY IN MALES OF A 5-GENERATION FAMILY, CAUSED BY AN A208T MUTATION, Clinical genetics, 50(5), 1996, pp. 310-316
HOMOZYGOUS DELETION OF EXON-18 LEADS TO DEGRADATION OF THE LYSOSOMAL ALPHA-GLUCOSIDASE PRECURSOR AND TO THE INFANTILE FORM OF GLYCOGEN-STORAGE-DISEASE TYPE-II
Authors: AUSEMS MGEM KROOS MA VANDERKRAAN M SMEITINK JAM KLEIJER WJ VANAMSTEL HKP REUSER AJJ
Citation: Mgem. Ausems et al., HOMOZYGOUS DELETION OF EXON-18 LEADS TO DEGRADATION OF THE LYSOSOMAL ALPHA-GLUCOSIDASE PRECURSOR AND TO THE INFANTILE FORM OF GLYCOGEN-STORAGE-DISEASE TYPE-II, Clinical genetics, 49(6), 1996, pp. 325-328
A BIOCHEMICAL AND ULTRASTRUCTURAL EVALUATION OF THE TYPE-2 GAUCHER MOUSE
Authors: WILLEMSEN R TYBULEWICZ V SIDRANSKY E ELIASON WK MARTIN BM LAMARCA ME REUSER AJJ TREMBLAY M WESTPHAL H MULLIGAN RC GINNS EI
Citation: R. Willemsen et al., A BIOCHEMICAL AND ULTRASTRUCTURAL EVALUATION OF THE TYPE-2 GAUCHER MOUSE, Molecular and chemical neuropathology, 24(2-3), 1995, pp. 179-192
CHARACTERIZATION OF FMR1 PROTEINS ISOLATED FROM DIFFERENT TISSUES
Authors: VERHEIJ C DEGRAAFF E BAKKER CE WILLEMSEN R WILLEMS PJ MEIJER N GALJAARD H REUSER AJJ OOSTRA BA HOOGEVEEN AT
Citation: C. Verheij et al., CHARACTERIZATION OF FMR1 PROTEINS ISOLATED FROM DIFFERENT TISSUES, Human molecular genetics, 4(5), 1995, pp. 895-901
GENOTYPE-PHENOTYPE CORRELATION IN ADULT-ONSET ACID MALTASE DEFICIENCY
Authors: WOKKE JHJ AUSEMS MGEM VANDENBOOGAARD MJH IPPEL EF VANDIGGELEN O KROOS MA BOER M JENNEKENS FGI REUSER AJJ VANAMSTEL HKP
Citation: Jhj. Wokke et al., GENOTYPE-PHENOTYPE CORRELATION IN ADULT-ONSET ACID MALTASE DEFICIENCY, Annals of neurology, 38(3), 1995, pp. 450-454
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
GLYCOGEN-STORAGE-DISEASE TYPE-II - FREQUENCY OF 3 COMMON MUTANT ALLELES AND THEIR ASSOCIATED CLINICAL PHENOTYPES STUDIED IN 121 PATIENTS
Authors: KROOS MA VANDERKRAAN M VANDIGGELEN OP KLEIJER WJ REUSER AJJ VANDENBOOGAARD MJ AUSEMS MGEM VANAMSTEL HKP
Citation: Ma. Kroos et al., GLYCOGEN-STORAGE-DISEASE TYPE-II - FREQUENCY OF 3 COMMON MUTANT ALLELES AND THEIR ASSOCIATED CLINICAL PHENOTYPES STUDIED IN 121 PATIENTS, Journal of Medical Genetics, 32(10), 1995, pp. 836-837
A BIOCHEMICAL AND IMMUNOCYTOCHEMICAL STUDY ON THE TARGETING OF ALGLUCERASE IN MURINE LIVER
Authors: WILLEMSEN R TIBBE JJM KROOS MA MARTIN BM REUSER AJJ GINNS EI
Citation: R. Willemsen et al., A BIOCHEMICAL AND IMMUNOCYTOCHEMICAL STUDY ON THE TARGETING OF ALGLUCERASE IN MURINE LIVER, Histochemical Journal, 27(8), 1995, pp. 639-646
ISOLATION AND CHARACTERIZATION OF A RECOMBINANT, PRECURSOR FORM OF LYSOSOMAL ACID ALPHA-GLUCOSIDASE
Authors: FULLER M VANDERPLOEG A REUSER AJJ ANSON DS HOPWOOD JJ
Citation: M. Fuller et al., ISOLATION AND CHARACTERIZATION OF A RECOMBINANT, PRECURSOR FORM OF LYSOSOMAL ACID ALPHA-GLUCOSIDASE, European journal of biochemistry, 234(3), 1995, pp. 903-909
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
Risultati: 1-25 | 26-34