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Results: 51-75/152

GAUCHER-DISEASE - 4 FAMILIES WITH PREVIOUSLY UNDESCRIBED MUTATIONS

Authors: BEUTLER E GELBART T BALICKI D DEMINA A ADUSUMALLI J ELSAS L GRINZAID KA GITZELMANN R SUPERTIFURGA A KATTAMIS C LIOU BBH

Citation: E. Beutler et al., GAUCHER-DISEASE - 4 FAMILIES WITH PREVIOUSLY UNDESCRIBED MUTATIONS, Proceedings of the Association of American Physicians, 108(3), 1996, pp. 179-184

HEMATOLOGICALLY IMPORTANT MUTATIONS - GLUCOSE-6-PHOSPHATE-DEHYDROGENASE

Authors: BEUTLER E VULLIAMY T LUZZATTO L

Citation: E. Beutler et al., HEMATOLOGICALLY IMPORTANT MUTATIONS - GLUCOSE-6-PHOSPHATE-DEHYDROGENASE, Blood cells, molecules, & diseases, 22(4), 1996, pp. 49-56

LOCALIZATION OF THE HEMOCHROMATOSIS DISEASE GENE - LINKAGE DISEQUILIBRIUM ANALYSIS USING AN AMERICAN PATIENT COLLECTION - COMMENTARY

Authors: BEUTLER E WEST C

Citation: E. Beutler et C. West, LOCALIZATION OF THE HEMOCHROMATOSIS DISEASE GENE - LINKAGE DISEQUILIBRIUM ANALYSIS USING AN AMERICAN PATIENT COLLECTION - COMMENTARY, Blood cells, molecules, & diseases, 22(3), 1996, pp. 47-48

MUTATION ANALYSIS IN HEREDITARY HEMOCHROMATOSIS (CORRECTED VERSION OFVF214)

Authors: BEUTLER E GELBART T WEST C LEE P ADAMS M BLACKSTONE R POCKROS P KOSTY M VENDITTI CP PHATAK PD SEESE NK CHORNEY KA TENELSHOF AE GERHARD GS CHORNEY M

Citation: E. Beutler et al., MUTATION ANALYSIS IN HEREDITARY HEMOCHROMATOSIS (CORRECTED VERSION OFVF214), Blood cells, molecules, & diseases, 22(16), 1996, pp. 187-194

MUTATION ANALYSIS IN HEREDITARY HEMOCHROMATOSIS

Authors: BEUTLER E GELBART T WEST C LEE P ADAMS M BLACKSTONE R POCKROS P KOSTY M VENDITTI CP PHATAK PD SEESE NK CHORNEY KA TENELSHOF AE GERHARD GS CHORNEY M

Citation: E. Beutler et al., MUTATION ANALYSIS IN HEREDITARY HEMOCHROMATOSIS, Blood cells, molecules, & diseases, 22(16), 1996, pp. 187-194

THE 1591C MUTATION IN TRIOSEPHOSPHATE ISOMERASE (TPI) DEFICIENCY - TIGHTLY LINKED POLYMORPHISMS AND A COMMON HAPLOTYPE IN ALL KNOWN FAMILIES

Authors: SCHNEIDER A WESTWOOD B YIM C COHENSOLAL M ROSA R LABOTKA R EBER S WOLF R LAMMI A BEUTLER E

Citation: A. Schneider et al., THE 1591C MUTATION IN TRIOSEPHOSPHATE ISOMERASE (TPI) DEFICIENCY - TIGHTLY LINKED POLYMORPHISMS AND A COMMON HAPLOTYPE IN ALL KNOWN FAMILIES, Blood cells, molecules, & diseases, 22(12), 1996, pp. 115-125

EFFECT OF LOW-DOSE ENZYME REPLACEMENT THERAPY ON BONES IN GAUCHER DISEASE PATIENTS WITH SEVERE SKELETAL INVOLVEMENT - COMMENTARY

Authors: BEUTLER E

Citation: E. Beutler, EFFECT OF LOW-DOSE ENZYME REPLACEMENT THERAPY ON BONES IN GAUCHER DISEASE PATIENTS WITH SEVERE SKELETAL INVOLVEMENT - COMMENTARY, Blood cells, molecules, & diseases, 22(11), 1996, pp. 113-114

THE COST OF TREATING GAUCHER DISEASE

Authors: BEUTLER E

Citation: E. Beutler, THE COST OF TREATING GAUCHER DISEASE, Nature medicine, 2(5), 1996, pp. 523-524

UPDATE ON NOMENCLATURE FOR HUMAN GENE-MUTATIONS

Authors: BEAUDET AL ANTONARAKIS SE BEUTLER E COTTON RGH DESNICK RJ KAZAZIAN HH MCALPINE PJ MCKUSICK A MOTULSKY AG SCRIVER CR SHOWS TB TSUI LC VALLE D

Citation: Al. Beaudet et al., UPDATE ON NOMENCLATURE FOR HUMAN GENE-MUTATIONS, Human mutation, 8(3), 1996, pp. 197-202

MUTATION NOMENCLATURE - NICKNAMES, SYSTEMATIC NAMES, AND UNIQUE IDENTIFIERS

Authors: BEUTLER E MCKUSICK VA MOTULSKY AG SCRIVER CR HUTCHINSON F

Citation: E. Beutler et al., MUTATION NOMENCLATURE - NICKNAMES, SYSTEMATIC NAMES, AND UNIQUE IDENTIFIERS, Human mutation, 8(3), 1996, pp. 203-206

GLUCOCEREBROSIDASE (GAUCHER DISEASE)

Authors: BEUTLER E GELBART T

Citation: E. Beutler et T. Gelbart, GLUCOCEREBROSIDASE (GAUCHER DISEASE), Human mutation, 8(3), 1996, pp. 207-213

MUTATIONS IN PYRUVATE-KINASE

Authors: BEUTLER E BARONCIANI L

Citation: E. Beutler et L. Baronciani, MUTATIONS IN PYRUVATE-KINASE, Human mutation, 7(1), 1996, pp. 1-6

ALL KNOWN CASES OF THE TRIOSEPHOSPHATE ISOMERASE (TPI) DEFICIENCY AMINO-ACID-104 MUTATION RESULT FROM A SINGLE MUTATION IN A COMMON ANCESTOR

Authors: SCHNEIDER A WESTWOOD B COHENSOLAL M ROSA R LABOTKA R EBER S WOLF R LAMMI A BEUTLER E

Citation: A. Schneider et al., ALL KNOWN CASES OF THE TRIOSEPHOSPHATE ISOMERASE (TPI) DEFICIENCY AMINO-ACID-104 MUTATION RESULT FROM A SINGLE MUTATION IN A COMMON ANCESTOR, The FASEB journal, 10(6), 1996, pp. 770-770

G6PD AURES - A RARE MUTANT OF G6PD IN SAUDI-ARABIA - MOLECULAR AND CLINICAL PRESENTATIONS

Authors: NIAZI G ADEYOKUNU A WESTWOOD B BEUTLER E

Citation: G. Niazi et al., G6PD AURES - A RARE MUTANT OF G6PD IN SAUDI-ARABIA - MOLECULAR AND CLINICAL PRESENTATIONS, Saudi medical journal, 17(3), 1996, pp. 311-314

CLINICAL, GENETIC, AND BIOCHEMICAL FEATURES OF G-6PD(WEST VIRGINIA)

Authors: COREY SJ BEUTLER E

Citation: Sj. Corey et E. Beutler, CLINICAL, GENETIC, AND BIOCHEMICAL FEATURES OF G-6PD(WEST VIRGINIA), American journal of hematology, 53(1), 1996, pp. 35-36

A COMPARISON OF 2 NEUROLOGIC SCORING INSTRUMENTS FOR MULTIPLE-SCLEROSIS

Authors: KOZIOL JA FRUTOS A SIPE JC ROMINE JS BEUTLER E

Citation: Ja. Koziol et al., A COMPARISON OF 2 NEUROLOGIC SCORING INSTRUMENTS FOR MULTIPLE-SCLEROSIS, Journal of neurology, 243(3), 1996, pp. 209-213

NEONATAL JAUNDICE IN SAUDI NEWBORNS WITH G6PD AURES

Authors: NIAZI GA ADEYOKUNNU A WESTWOOD B BEUTLER E

Citation: Ga. Niazi et al., NEONATAL JAUNDICE IN SAUDI NEWBORNS WITH G6PD AURES, Annals of tropical paediatrics, 16(1), 1996, pp. 33-37

G6PD - POPULATION-GENETICS AND CLINICAL MANIFESTATIONS

Authors: BEUTLER E

Citation: E. Beutler, G6PD - POPULATION-GENETICS AND CLINICAL MANIFESTATIONS, Blood reviews, 10(1), 1996, pp. 45-52

GAUCHER DISEASE - CURRENT ISSUES IN DIAGNOSIS AND TREATMENT

Authors: MCCABE ERB FINE BA GOLBUS MS GREENHOUSE JB MCGRATH GL NEW M OBRIEN WE ROWLEY PT SLY WS SPENCE MA STOCKMAN JA WHYTE M WILSON W WOLF B AERTS JMFG BARRANGER JA BARTON NW BEUTLER E BRADY RO COX TM EKSTEIN J ENG CM ERIKSON A FINDLING DM GARBER AM GINNS EI GRABOWSKI GA HILL SC HOLLACK CEM KABACK MM LEE RE MANKIN HJ MISTRY PK MOSCICKI RA MURRAY GJ NATOWICZ M PASTORES GM MIRANDA MCS SIDRANSKY E WARE JE WILLEMSEN R ZAIZOV R ZIMRAN A BEITINS IZ BERMAN RE ELLIOTT JM FERGUSON JH HALL WH MCKEON C NITKIN RM SCHLESINGER SL SHERIDAN PH WEEKS M COWDRY RW ALEXANDER DF GORDEN P HALL ZW VAITUKAITIS JL COLLINS FS GROFT S

Citation: Erb. Mccabe et al., GAUCHER DISEASE - CURRENT ISSUES IN DIAGNOSIS AND TREATMENT, JAMA, the journal of the American Medical Association, 275(7), 1996, pp. 548-553

TREATMENT OF MULTIPLE-SCLEROSIS AND OTHER AUTOIMMUNE-DISEASES WITH CLADRIBINE

Authors: BEUTLER E SIPE J ROMINE J MCMILLAN R ZYROFF J KOZIOL J

Citation: E. Beutler et al., TREATMENT OF MULTIPLE-SCLEROSIS AND OTHER AUTOIMMUNE-DISEASES WITH CLADRIBINE, Seminars in hematology, 33(1), 1996, pp. 45-52

THE TREATMENT OF CHRONIC PROGRESSIVE MULTIPLE-SCLEROSIS WITH CLADRIBINE

Authors: BEUTLER E SIPE JC ROMINE JS KOZIOL JA MCMILLAN R ZYROFF J

Citation: E. Beutler et al., THE TREATMENT OF CHRONIC PROGRESSIVE MULTIPLE-SCLEROSIS WITH CLADRIBINE, Proceedings of the National Academy of Sciences of the United Statesof America, 93(4), 1996, pp. 1716-1720

STUDY OF THE MOLECULAR DEFECTS IN GLUCOSE PHOSPHATE ISOMERASE-DEFICIENT PATIENTS AFFECTED BY CHRONIC HEMOLYTIC-ANEMIA

Authors: BARONCIANI L ZANELLA A BIANCHI P ZAPPA M ALFINITO F IOLASCON A TANNOIA N BEUTLER E SIRCHIA G

Citation: L. Baronciani et al., STUDY OF THE MOLECULAR DEFECTS IN GLUCOSE PHOSPHATE ISOMERASE-DEFICIENT PATIENTS AFFECTED BY CHRONIC HEMOLYTIC-ANEMIA, Blood, 88(6), 1996, pp. 2306-2310

IN-VITRO DNA TRANSFECTION USING AN ANIONIC LIPOSOME

Authors: BALICKI D BEUTLER E

Citation: D. Balicki et E. Beutler, IN-VITRO DNA TRANSFECTION USING AN ANIONIC LIPOSOME, Blood, 88(10), 1996, pp. 3884-3884

G6PD DURHAM - A DE-NOVO MUTATION ASSOCIATED WITH CHRONIC HEMOLYTIC-ANEMIA

Authors: ZIMMERMAN SA WARE RE FORMAN L WESTWOOD B BEUTLER E

Citation: Sa. Zimmerman et al., G6PD DURHAM - A DE-NOVO MUTATION ASSOCIATED WITH CHRONIC HEMOLYTIC-ANEMIA, Blood, 88(10), 1996, pp. 1217-1217

MOLECULAR DIAGNOSIS OF HEREDITARY HEMOCHROMATOSIS

Authors: BEUTLER E GELBART T WEST C LEE P ADAMS M BLACKSTONE R POCKROS P KOSTY M VENDITTI CP PHATAK P SEESE NK GERHARD G CHORNEY M

Citation: E. Beutler et al., MOLECULAR DIAGNOSIS OF HEREDITARY HEMOCHROMATOSIS, Blood, 88(10), 1996, pp. 2578-2578

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