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Results: 1-10 |
Results: 10
MUTATIONS IN THE LIVER-GLYCOGEN PHOSPHORYLASE GENE (PYGL) UNDERLYING GLYCOGENOSIS TYPE-VI (HERS-DISEASE)
Authors: BURWINKEL B BAKKER HD HERSCHKOVITZ E MOSES SW SHIN YS KILIMANN MW
Citation: B. Burwinkel et al., MUTATIONS IN THE LIVER-GLYCOGEN PHOSPHORYLASE GENE (PYGL) UNDERLYING GLYCOGENOSIS TYPE-VI (HERS-DISEASE), American journal of human genetics, 62(4), 1998, pp. 785-791
2 NEW MUTATIONS IN THE 3'-CODING REGION OF THE GLYCOGEN DEBRANCHING ENZYME IN A GLYCOGEN-STORAGE-DISEASE TYPE IIIA ASHKENAZI JEWISH PATIENT
Authors: PARVARI R SHEN J HERSHKOVITZ E CHEN YT MOSES SW
Citation: R. Parvari et al., 2 NEW MUTATIONS IN THE 3'-CODING REGION OF THE GLYCOGEN DEBRANCHING ENZYME IN A GLYCOGEN-STORAGE-DISEASE TYPE IIIA ASHKENAZI JEWISH PATIENT, Journal of inherited metabolic disease, 21(2), 1998, pp. 141-148
THE GENE FOR GLYCOGEN-STORAGE-DISEASE TYPE 1B MAPS TO CHROMOSOME 11Q23
Authors: ANNABI B HIRAIWA H MANSFIELD BC LEI KJ UBAGAI T POLYMEROPOULOS MH MOSES SW PARVARI R HERSHKOVITZ E MANDEL H FRYMAN M CHOU JY
Citation: B. Annabi et al., THE GENE FOR GLYCOGEN-STORAGE-DISEASE TYPE 1B MAPS TO CHROMOSOME 11Q23, American journal of human genetics, 62(2), 1998, pp. 400-405
PHOSPHORYLASE-KINASE-DEFICIENT LIVER GLYCOGENOSIS WITH AN UNUSUAL BIOCHEMICAL PHENOTYPE IN BLOOD-CELLS ASSOCIATED WITH A MISSENSE MUTATION IN THE BETA-SUBUNIT GENE (PHKB)
Authors: BURWINKEL B MOSES SW KILIMANN MW
Citation: B. Burwinkel et al., PHOSPHORYLASE-KINASE-DEFICIENT LIVER GLYCOGENOSIS WITH AN UNUSUAL BIOCHEMICAL PHENOTYPE IN BLOOD-CELLS ASSOCIATED WITH A MISSENSE MUTATION IN THE BETA-SUBUNIT GENE (PHKB), Human genetics, 101(2), 1997, pp. 170-174
GLYCOGEN-STORAGE-DISEASE TYPE 1A IN ISRAEL - BIOCHEMICAL, CLINICAL, AND MUTATIONAL STUDIES
Authors: PARVARI R LEI KJ BASHAN N HERSHKOVITZ E KORMAN SH BARASH V LERMANSAGIE T MANDEL H CHOU JY MOSES SW
Citation: R. Parvari et al., GLYCOGEN-STORAGE-DISEASE TYPE 1A IN ISRAEL - BIOCHEMICAL, CLINICAL, AND MUTATIONAL STUDIES, American journal of medical genetics, 72(3), 1997, pp. 286-290
STRATEGIC-PLANNING OF TRANSPORTATION SERVICES FOR PETROLEUM-PRODUCTS - AN APPLICATION OF CAPACITATED GRAVITY MODELS
Authors: SMITH LD MOSES SW
Citation: Ld. Smith et Sw. Moses, STRATEGIC-PLANNING OF TRANSPORTATION SERVICES FOR PETROLEUM-PRODUCTS - AN APPLICATION OF CAPACITATED GRAVITY MODELS, European journal of operational research, 88(2), 1996, pp. 215-230
POSTNATAL REGRESSION OF GLUCOSE-TRANSPORT IN A PATIENT WITH GLYCOGEN-STORAGE-DISEASE TYPE 1B
Authors: LEVY J ABURAS MT BERENSTEIN T POTASHNIK R MEISNER I MOSES SW BASHAN N
Citation: J. Levy et al., POSTNATAL REGRESSION OF GLUCOSE-TRANSPORT IN A PATIENT WITH GLYCOGEN-STORAGE-DISEASE TYPE 1B, Journal of inherited metabolic disease, 17(1), 1994, pp. 16-22
GLYCOGEN-STORAGE-DISEASE TYPE-I - PREFACE
Authors: MOSES SW SHIN YS SMIT GPA ULLRICH K
Citation: Sw. Moses et al., GLYCOGEN-STORAGE-DISEASE TYPE-I - PREFACE, European journal of pediatrics, 152, 1993, pp. 1-1
GLYCOGEN-STORAGE-DISEASE TYPE-I - INTRODUCTION
Authors: MOSES SW
Citation: Sw. Moses, GLYCOGEN-STORAGE-DISEASE TYPE-I - INTRODUCTION, European journal of pediatrics, 152, 1993, pp. 1-1
DEFICIENT GLUCOSE PHOSPHORYLATION AS A POSSIBLE COMMON DENOMINATOR AND ITS RELATION TO ABNORMAL LEUKOCYTE FUNCTION, IN GLYCOGEN-STORAGE DISEASE-1B PATIENTS
Authors: BASHAN N POTASHNIK R PEIST A PELEG N MORAN A MOSES SW
Citation: N. Bashan et al., DEFICIENT GLUCOSE PHOSPHORYLATION AS A POSSIBLE COMMON DENOMINATOR AND ITS RELATION TO ABNORMAL LEUKOCYTE FUNCTION, IN GLYCOGEN-STORAGE DISEASE-1B PATIENTS, European journal of pediatrics, 152, 1993, pp. 44-48
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