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Results: 1-22 |
Results: 22
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
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
ENDOGENOUS TYPE-II CGMP-DEPENDENT PROTEIN-KINASE EXISTS AS A DIMER INMEMBRANES AND CAN BE FUNCTIONALLY DISTINGUISHED FROM THE TYPE-I ISOFORMS
Authors: VAANDRAGER AB EDIXHOVEN M BOT AGM KROOS MA JARCHAU T LOHMANN S GENIESER HG DEJONGE HR
Citation: Ab. Vaandrager et al., ENDOGENOUS TYPE-II CGMP-DEPENDENT PROTEIN-KINASE EXISTS AS A DIMER INMEMBRANES AND CAN BE FUNCTIONALLY DISTINGUISHED FROM THE TYPE-I ISOFORMS, The Journal of biological chemistry, 272(18), 1997, pp. 11816-11823
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
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
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
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
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
THE EFFECT OF A SINGLE-BASE PAIR DELETION (DELTA-T525) AND A C1634T MISSENSE MUTATION (PRO545LEU) ON THE EXPRESSION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II
Authors: HERMANS MMP DEGRAAFF E KROOS MA MOHKAMSING S EUSSEN BJ JOOSSE M WILLEMSEN R KLEIJER WJ OOSTRA BA REUSER AJJ
Citation: Mmp. Hermans et al., THE EFFECT OF A SINGLE-BASE PAIR DELETION (DELTA-T525) AND A C1634T MISSENSE MUTATION (PRO545LEU) ON THE EXPRESSION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II, Human molecular genetics, 3(12), 1994, pp. 2213-2218
DELETION OF EXON-18 IS A FREQUENT MUTATION IN GLYCOGEN-STORAGE-DISEASE TYPE-II
Authors: VANDERKRAAN M KROOS MA JOOSSE M BIJVOET AGA VERBEET MP KLEIJER WJ REUSER AJJ
Citation: M. Vanderkraan et al., DELETION OF EXON-18 IS A FREQUENT MUTATION IN GLYCOGEN-STORAGE-DISEASE TYPE-II, Biochemical and biophysical research communications, 203(3), 1994, pp. 1535-1541
LYSOSOMAL STORAGE DISEASES - CELLULAR PATHOLOGY, CLINICAL AND GENETIC-HETEROGENEITY, THERAPY
Authors: REUSER AJJ KROOS MA VISSER WJ WILLEMSEN R
Citation: Ajj. Reuser et al., LYSOSOMAL STORAGE DISEASES - CELLULAR PATHOLOGY, CLINICAL AND GENETIC-HETEROGENEITY, THERAPY, Annales de biologie clinique, 52(10), 1994, pp. 721-728
2 MUTATIONS AFFECTING THE TRANSPORT AND MATURATION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN AN ADULT CASE OF GLYCOGEN-STORAGE-DISEASE TYPE-II
Authors: HERMANS MMP KROOS MA DEGRAAFF E OOSTRA BA REUSER AJJ
Citation: Mmp. Hermans et al., 2 MUTATIONS AFFECTING THE TRANSPORT AND MATURATION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN AN ADULT CASE OF GLYCOGEN-STORAGE-DISEASE TYPE-II, Human mutation, 2(4), 1993, pp. 268-273
Risultati: 1-22 |