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Results: 1-11 |
Results: 11
VARIABILITY OF BIOCHEMICAL AND CLINICAL PHENOTYPE IN X-LINKED LIVER GLYCOGENOSIS WITH MUTATIONS IN THE PHOSPHORYLASE-KINASE PHKA2 GENE
Authors: BURWINKEL B AMAT L GRAY RGF MATSUO N MUROYA K NARISAWA K SOKOL RJ VILASECA MA KILIMANN MW
Citation: B. Burwinkel et al., VARIABILITY OF BIOCHEMICAL AND CLINICAL PHENOTYPE IN X-LINKED LIVER GLYCOGENOSIS WITH MUTATIONS IN THE PHOSPHORYLASE-KINASE PHKA2 GENE, Human genetics, 102(4), 1998, pp. 423-429
AUTOCLAVING GUTHRIE CARDS DOES NOT PREVENT THEIR USE IN PCR REACTIONS
Authors: GRAY RGF HALL SK
Citation: Rgf. Gray et Sk. Hall, AUTOCLAVING GUTHRIE CARDS DOES NOT PREVENT THEIR USE IN PCR REACTIONS, Journal of Medical Genetics, 35(8), 1998, pp. 702-702
ETHYLMALONIC ADIPIC ACIDURIA - A TREATABLE HEPATOMUSCULAR DISORDER IN2 ADULT BROTHERS
Authors: ELIAS E GRAY RGF POULTON K GREEN A
Citation: E. Elias et al., ETHYLMALONIC ADIPIC ACIDURIA - A TREATABLE HEPATOMUSCULAR DISORDER IN2 ADULT BROTHERS, Journal of hepatology, 26(2), 1997, pp. 433-436
PRENATAL EXCLUSION OF THE HHH SYNDROME
Authors: GRAY RGF GREEN A HALL S MCKEOWN C
Citation: Rgf. Gray et al., PRENATAL EXCLUSION OF THE HHH SYNDROME, Prenatal diagnosis, 15(5), 1995, pp. 474-476
A MISDIAGNOSIS OF X-LINKED ADRENOLEUKODYSTROPHY IN CULTURED CHRONIC VILLUS CELLS BY THE MEASUREMENT OF VERY LONG-CHAIN FATTY-ACIDS
Authors: GRAY RGF GREEN A COLE T DAVIDSON V GILES M SCHUTGENS RBH WANDERS RJA
Citation: Rgf. Gray et al., A MISDIAGNOSIS OF X-LINKED ADRENOLEUKODYSTROPHY IN CULTURED CHRONIC VILLUS CELLS BY THE MEASUREMENT OF VERY LONG-CHAIN FATTY-ACIDS, Prenatal diagnosis, 15(5), 1995, pp. 486-490
PRENATAL-DIAGNOSIS FOR CANAVAN DISEASE - THE USE OF DNA MARKERS
Authors: MATALON R KAUL R GAO GP MICHALS K GRAY RGF BENNETTBRITON S NORMAN A SMITH M JAKOBS C
Citation: R. Matalon et al., PRENATAL-DIAGNOSIS FOR CANAVAN DISEASE - THE USE OF DNA MARKERS, Journal of inherited metabolic disease, 18(2), 1995, pp. 215-217
TYROSINEMIA TYPE-1 AND GLUTATHIONE SYNTHETASE DEFICIENCY - 2 DISORDERS WITH REDUCED HEPATIC THIOL-GROUP CONCENTRATIONS AND A LIVER 4-FUMARYLACETOACETATE HYDROLASE DEFICIENCY
Authors: LLOYD AJ GRAY RGF GREEN A
Citation: Aj. Lloyd et al., TYROSINEMIA TYPE-1 AND GLUTATHIONE SYNTHETASE DEFICIENCY - 2 DISORDERS WITH REDUCED HEPATIC THIOL-GROUP CONCENTRATIONS AND A LIVER 4-FUMARYLACETOACETATE HYDROLASE DEFICIENCY, Journal of inherited metabolic disease, 18(1), 1995, pp. 48-55
REGIONAL VARIATIONS IN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
Authors: SEDDON HR GREEN A GRAY RGF LEONARD JV POLLITT RJ
Citation: Hr. Seddon et al., REGIONAL VARIATIONS IN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY, Lancet, 345(8942), 1995, pp. 135-136
THE CRYOPRESERVATION OF SKIN BIOPSIES - A TECHNIQUE FOR REDUCING WORKLOAD IN A CELL-CULTURE LABORATORY
Authors: GRAY RGF RYAN D GREEN A
Citation: Rgf. Gray et al., THE CRYOPRESERVATION OF SKIN BIOPSIES - A TECHNIQUE FOR REDUCING WORKLOAD IN A CELL-CULTURE LABORATORY, Annals of clinical biochemistry, 32, 1995, pp. 190-192
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - MULTIPLE ABNORMALITIESAND DIAGNOSTIC DELAY
Authors: HUTCHESSON ACJ GRAY RGF SPENCER DA KEIR G
Citation: Acj. Hutchesson et al., CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - MULTIPLE ABNORMALITIESAND DIAGNOSTIC DELAY, Archives of Disease in Childhood, 72(5), 1995, pp. 445-446
DIAGNOSIS AND MANAGEMENT OF NONIMMUNE HYDROPS IN THE NEWBORN
Authors: GRAY RGF GREEN A
Citation: Rgf. Gray et A. Green, DIAGNOSIS AND MANAGEMENT OF NONIMMUNE HYDROPS IN THE NEWBORN, Archives of Disease in Childhood, 71(2), 1994, pp. 60000148-60000149
Risultati: 1-11 |