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Results: 1-10 |
Results: 10
AMERINDIAN PYRUVATE-CARBOXYLASE DEFICIENCY IS ASSOCIATED WITH 2 DISTINCT MISSENSE MUTATIONS
Authors: CARBONE MA MACKAY N LING MF COLE DEC DOUGLAS C RIGAT B FEIGENBAUM A CLARKE JTR HAWORTH JC GREENBERG CR SEARGEANT L ROBINSON BH
Citation: Ma. Carbone et al., AMERINDIAN PYRUVATE-CARBOXYLASE DEFICIENCY IS ASSOCIATED WITH 2 DISTINCT MISSENSE MUTATIONS, American journal of human genetics, 62(6), 1998, pp. 1312-1319
2 NOVEL MUTATIONS IN A CANADIAN FAMILY WITH ASPARTYLGLUCOSAMINURIA AND EARLY OUTCOME POST BONE-MARROW TRANSPLANTATION
Authors: LAITINEN A HIETALA M HAWORTH JC SCHROEDER ML SEARGEANT LE GREENBERG R AULA P
Citation: A. Laitinen et al., 2 NOVEL MUTATIONS IN A CANADIAN FAMILY WITH ASPARTYLGLUCOSAMINURIA AND EARLY OUTCOME POST BONE-MARROW TRANSPLANTATION, Clinical genetics, 51(3), 1997, pp. 174-178
A G-TO-T TRANSVERSION AT THE -POSITION OF INTRON-1 IN THE GLUTARYL COA DEHYDROGENASE GENE IS ASSOCIATED WITH THE ISLAND LAKE VARIANT OF GLUTARIC ACIDEMIA TYPE-I(5)
Authors: GREENBERG CR REIMER D SINGAL R TRIGGSRAINE B CHUDLEY AE DILLING LA PHILIPPS S HAWORTH JC SEARGEANT LE GOODMAN SI
Citation: Cr. Greenberg et al., A G-TO-T TRANSVERSION AT THE -POSITION OF INTRON-1 IN THE GLUTARYL COA DEHYDROGENASE GENE IS ASSOCIATED WITH THE ISLAND LAKE VARIANT OF GLUTARIC ACIDEMIA TYPE-I(5), Human molecular genetics, 4(3), 1995, pp. 493-495
RICKETS STILL AFFECTS CANADIAN CHILDREN
Authors: HAWORTH JC
Citation: Jc. Haworth, RICKETS STILL AFFECTS CANADIAN CHILDREN, CMAJ. Canadian Medical Association journal, 153(6), 1995, pp. 740-741
BLOOD LACTATE AND PYRUVATE CONCENTRATIONS, AND THEIR RATIO DURING EXERCISE IN HEALTHY-CHILDREN - DEVELOPMENTAL PERSPECTIVE
Authors: PIANOSI P SEARGEANT L HAWORTH JC
Citation: P. Pianosi et al., BLOOD LACTATE AND PYRUVATE CONCENTRATIONS, AND THEIR RATIO DURING EXERCISE IN HEALTHY-CHILDREN - DEVELOPMENTAL PERSPECTIVE, European journal of applied physiology and occupational physiology, 71(6), 1995, pp. 518-522
2 NEW MUTATIONS IN THE ASPARTYLGLUCOSAMINIDASE (AGA) GENE CAUSING ASPARTYLGLUCOSAMINURIA (AGU)
Authors: GREENBERG CR HAWORTH JC SEARGEANT LE DILLING LA LAITINEN A HIETALA M AULA P
Citation: Cr. Greenberg et al., 2 NEW MUTATIONS IN THE ASPARTYLGLUCOSAMINIDASE (AGA) GENE CAUSING ASPARTYLGLUCOSAMINURIA (AGU), Pediatric research, 37(4), 1995, pp. 149-149
TAQI POLYMORPHISM IN INTRON-2 OF THE GCDH GENE
Authors: HAWORTH JC SINGAL R GOODMAN SI GREENBERG CR
Citation: Jc. Haworth et al., TAQI POLYMORPHISM IN INTRON-2 OF THE GCDH GENE, Human molecular genetics, 3(4), 1994, pp. 678-678
GLYCOGEN-STORAGE-DISEASE IN ADULTS
Authors: TALENTE GM COLEMAN RA ALTER C BAKER L BROWN BI CANNON RA CHEN YT CRIGLER JF FERREIRA P HAWORTH JC HERMAN GE ISSENMAN RM KEATING JP LINDE R ROE TF SENIOR B WOLFSDORF JI
Citation: Gm. Talente et al., GLYCOGEN-STORAGE-DISEASE IN ADULTS, Annals of internal medicine, 120(3), 1994, pp. 218-226
A HOMOALLELIC GLY(317)-]ASP MUTATION IN ALPL CAUSES THE PERINATAL (LETHAL) FORM OF HYPOPHOSPHATASIA IN CANADIAN MENNONITES
Authors: GREENBERG CR TAYLOR CLD HAWORTH JC SEARGEANT LE PHILIPPS S TRIGGSRAINE B CHODIRKER BN
Citation: Cr. Greenberg et al., A HOMOALLELIC GLY(317)-]ASP MUTATION IN ALPL CAUSES THE PERINATAL (LETHAL) FORM OF HYPOPHOSPHATASIA IN CANADIAN MENNONITES, Genomics, 17(1), 1993, pp. 215-217
VITAMIN-D DEFICIENCY IN A MANITOBA COMMUNITY
Authors: LEBRUN JB MOFFATT MEK MUNDY RJT SANGSTER RK POSTL BD DOOLEY JP DILLING LA GODEL JC HAWORTH JC
Citation: Jb. Lebrun et al., VITAMIN-D DEFICIENCY IN A MANITOBA COMMUNITY, Canadian journal of public health, 84(6), 1993, pp. 394-396
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