AAAAAA
Results: 1-25/26
Authors:
Hogema, BM
Akaboshi, S
Taylor, M
Salomons, GS
Jakobs, C
Schutgens, RB
Wilcken, B
Worthington, S
Maropoulos, G
Grompe, M
Gibson, KM
Citation: Bm. Hogema et al., Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: Increased accuracy employing DNA, enzyme, and metabolite analyses, MOL GEN MET, 72(3), 2001, pp. 218-222
Authors:
Massie, RJH
Poplawski, N
Wilcken, B
Goldblatt, J
Byrnes, C
Robertson, C
Citation: Rjh. Massie et al., Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C, EUR RESP J, 17(6), 2001, pp. 1195-1200
Authors:
Wilcken, B
Citation: B. Wilcken, Rare diseases and the assessment of intervention: What sorts of clinical trials can we use?, J INH MET D, 24(2), 2001, pp. 291-298
Authors:
Potter, M
Hammond, JW
Sim, KG
Green, AK
Wilcken, B
Citation: M. Potter et al., Ornithine carbamoyltransferase deficiency: Improved sensitivity of testingfor protein tolerance in the diagnosis of heterozygotes, J INH MET D, 24(1), 2001, pp. 5-14
Authors:
Sim, KG
Wiley, V
Carpenter, K
Wilcken, B
Citation: Kg. Sim et al., Carnitine palmitoyltransferase I deficiency in neonate identified by driedblood spot free carnitine and acylcarnitine profile, J INH MET D, 24(1), 2001, pp. 51-59
Authors:
Wilcken, B
Wiley, V
Sim, KG
Carpenter, K
Citation: B. Wilcken et al., Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry, J PEDIAT, 138(4), 2001, pp. 581-584
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies
Authors:
Carpenter, K
Wiley, V
Sim, KG
Heath, D
Wilcken, B
Citation: K. Carpenter et al., Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies, ARCH DIS CH, 85(2), 2001, pp. F105-F109
Authors:
Wilcken, DEL
Wilcken, B
Citation: Del. Wilcken et B. Wilcken, Historical overview and recent perspectives, HOMOCYSTEINE IN HEALTH AND DISEASE, 2001, pp. 1-6
Authors:
Massie, J
Gaskin, K
Van Asperen, P
Wilcken, B
Citation: J. Massie et al., Sweat testing following newborn screening for cystic fibrosis, PEDIAT PULM, 29(6), 2000, pp. 452-456
Authors:
Mudd, SH
Finkelstein, JD
Refsum, H
Ueland, PM
Malinow, MR
Lentz, SR
Jacobsen, DW
Brattstrom, L
Wilcken, B
Wilcken, DEL
Blom, HJ
Stabler, SP
Allen, RH
Selhub, J
Rosenberg, IH
Citation: Sh. Mudd et al., Homocysteine and its disulfide derivatives - A suggested consensus terminology, ART THROM V, 20(7), 2000, pp. 1704-1706
Authors:
Wilcken, DEL
Wang, XL
Adachi, T
Hara, H
Duarte, N
Green, K
Wilcken, B
Citation: Del. Wilcken et al., Relationship between homocysteine and superoxide dismutase in homocystinuria - Possible relevance to cardiovascular risk, ART THROM V, 20(5), 2000, pp. 1199-1202
Authors:
Carpenter, KH
Wilcken, B
Christodoulou, J
Thorburn, DR
Citation: Kh. Carpenter et al., Holocarboxylase synthetase deficiency: Urinary metabolites masked by grossketosis, J INH MET D, 23(8), 2000, pp. 845-846
Authors:
Dudding, T
Wilcken, B
Burgess, B
Turner, G
Citation: T. Dudding et al., Neonatal screening for cystic fibrosis, LANCET, 356(9245), 2000, pp. 1930-1930
Authors:
Yap, S
Naughten, ER
Wilcken, B
Wilcken, DEL
Boers, GHJ
Citation: S. Yap et al., Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: Effects of homocysteine-lowering therapy, SEM THROMB, 26(3), 2000, pp. 335-340
Authors:
Tangerman, A
Wilcken, B
Levy, HL
Boers, GHJ
Mudd, SH
Citation: A. Tangerman et al., Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency, METABOLISM, 49(8), 2000, pp. 1071-1077
Authors:
Massie, RJ
Wilcken, B
Van Asperen, P
Dorney, S
Gruca, M
Wiley, V
Gaskin, K
Citation: Rj. Massie et al., Pancreatic function and extended mutation analysis in Delta F508 heterozygous infants with an elevated immunoreactive trypsinogen but normal sweat electrolyte levels, J PEDIAT, 137(2), 2000, pp. 214-220
Authors:
Dudding, T
Wilcken, B
Burgess, B
Hambly, J
Turner, G
Citation: T. Dudding et al., Reproductive decisions after neonatal screening identifies cystic fibrosis, ARCH DIS CH, 82(2), 2000, pp. F124-F127
Authors:
Boers, GHJ
Yap, S
Naughten, E
Wilcken, B
Citation: Ghj. Boers et al., The treatment of high homocysteine concentrations in homocystinuria: Biochemical control in patients and their vascular outcome, DEV CARD M, 230, 2000, pp. 389-411
Authors:
Ellaway, C
Williams, K
Leonard, H
Higgins, G
Wilcken, B
Christodoulou, J
Citation: C. Ellaway et al., Rett Syndrome: Randomized controlled trial of L-carnitine, J CHILD NEU, 14(3), 1999, pp. 162-167
Authors:
Wilcken, B
Travert, G
Citation: B. Wilcken et G. Travert, Neonatal screening for cystic fibrosis: present and future, ACT PAEDIAT, 88, 1999, pp. 33-35
Authors:
Wiley, V
Carpenter, K
Wilcken, B
Citation: V. Wiley et al., Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia, ACT PAEDIAT, 88, 1999, pp. 48-51
Authors:
Carpenter, KH
Wilcken, B
Citation: Kh. Carpenter et B. Wilcken, Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry, J INH MET D, 22(7), 1999, pp. 840-841
Authors:
Hammond, JW
Potter, M
Sim, KG
Wilcken, B
Citation: Jw. Hammond et al., Reduced glutathione, gamma-glutamylcysteine, cysteine and gamma-glutamylglutamine in gamma-glutamyltransferase deficiency, J INH MET D, 22(3), 1999, pp. 235-239
Authors:
Ellaway, CJ
Bennetts, B
Tuck, RR
Wilcken, B
Citation: Cj. Ellaway et al., Clumsiness, confusion, coma, and valproate, LANCET, 353(9162), 1999, pp. 1408-1408
Authors:
Mowat, DR
Hayden, MC
Thompson, SM
Wilcken, B
Citation: Dr. Mowat et al., Maternal phenylketonuria: a continuing problem, MED J AUST, 170(12), 1999, pp. 592-595