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Results:
1-22
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Results: 22
Authors:
WILCKEN B
Citation: B. Wilcken, NEONATAL SCREENING FOR CYSTIC-FIBROSIS - IT IS TIME, Pediatric pulmonology, 26(3), 1998, pp. 219-221
Authors:
ELLAWAY C
CHRISTODOULOU J
KAMATH R
CARPENTER K
WILCKEN B
Citation: C. Ellaway et al., THE ASSOCIATION OF PROTEIN-LOSING ENTEROPATHY WITH COBALAMIN-C DEFECT, Journal of inherited metabolic disease, 21(1), 1998, pp. 17-22
Authors:
ANDRESEN BS
BROSS P
UDVARI S
KIRK J
GRAY G
KMOCH S
CHAMOLES N
KNUDSEN I
WINTER V
WILCKEN B
YOKOTA I
HART K
PACKMAN S
HARPEY JP
SAUDUBRAY JM
HALE DE
BOLUND L
KOLVRAA S
GREGERSEN N
Citation: Bs. Andresen et al., THE MOLECULAR-BASIS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY IN COMPOUND HETEROZYGOUS PATIENTS - IS THERE CORRELATION BETWEEN GENOTYPE AND PHENOTYPE, Human molecular genetics, 6(5), 1997, pp. 695-707
Authors:
GRATTANSMITH PJ
WILCKEN B
PROCOPIS PG
WISE GA
Citation: Pj. Grattansmith et al., THE NEUROLOGICAL SYNDROME OF INFANTILE COBALAMIN DEFICIENCY - DEVELOPMENTAL REGRESSION AND INVOLUNTARY MOVEMENTS, Movement disorders, 12(1), 1997, pp. 39-46
Authors:
JONES KJ
WILCKEN B
KILHAM H
Citation: Kj. Jones et al., THE LONG-TERM EVOLUTION OF A CASE OF 3-HYDROXY-3-METHYLGLUTARYL-COENZYME-A LYASE DEFICIENCY ASSOCIATED WITH DEAFNESS AND RETINITIS-PIGMENTOSA, Journal of inherited metabolic disease, 20(6), 1997, pp. 833-834
Authors:
CARPENTER KH
POTTER M
HAMMOND JW
WILCKEN B
Citation: Kh. Carpenter et al., BENIGN PERSISTENT OROTIC ACIDURIA AND THE POSSIBILITY OF MISDIAGNOSISSF ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY, Journal of inherited metabolic disease, 20(3), 1997, pp. 354-358
Authors:
WILCKEN DEL
WILCKEN B
Citation: Del. Wilcken et B. Wilcken, THE NATURAL-HISTORY OF VASCULAR-DISEASE IN HOMOCYSTINURIA AND THE EFFECTS OF TREATMENT, Journal of inherited metabolic disease, 20(2), 1997, pp. 295-300
Authors:
WILCKEN DEL
WANG XL
WILCKEN B
Citation: Del. Wilcken et al., METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) MUTATION, HOMOCYST(E)INE,AND CORONARY-ARTERY DISEASE, Circulation, 96(8), 1997, pp. 2738-2740
Authors:
WILCKEN B
WILEY V
Citation: B. Wilcken et V. Wiley, NEWBORN SCREENING FOR CONGENITAL ADRENAL-HYPERPLASIA - TESTING TO COMMENCE IN NEW-SOUTH-WALES, Journal of paediatrics and child health, 32(1), 1996, pp. 76-76
Authors:
CHRISTODOULOU J
TEO SH
HAMMOND J
SIM KG
HSU BYL
STANLEY CA
WATSON B
LAU KC
WILCKEN B
Citation: J. Christodoulou et al., FIRST PRENATAL-DIAGNOSIS OF THE CARNITINE TRANSPORTER DEFECT, American journal of medical genetics, 66(1), 1996, pp. 21-24
Authors:
WORTHINGTON S
CHRISTODOULOU J
WILCKEN B
PEAT B
Citation: S. Worthington et al., PREGNANCY AND ARGININOSUCCINIC ACIDURIA, Journal of inherited metabolic disease, 19(5), 1996, pp. 621-623
Authors:
IP WC
HAMMOND JW
WILCKEN B
Citation: Wc. Ip et al., NEONATAL MULTIPLE ACYL-COA DEHYDROGENASE-DEFICIENCY - ESSENTIALLY ABSENT FATTY-ACID OXIDATION ACTIVITY IN PROBAND BUT NORMAL ACTIVITY IN PARENTAL CULTURED SKIN FIBROBLASTS, Journal of inherited metabolic disease, 19(3), 1996, pp. 379-380
Authors:
FITZGERALD D
VANASPEREN P
HENRY R
WATERS D
FREELANDER M
WILSON M
WILCKEN B
GASKIN K
Citation: D. Fitzgerald et al., DELAYED DIAGNOSIS OF CYSTIC-FIBROSIS IN CHILDREN WITH A RARE GENOTYPE(DELTA-F508 R117H)/, Journal of paediatrics and child health, 31(3), 1995, pp. 168-171
Authors:
FLETCHER JM
BYE AME
NAYANAR V
WILCKEN B
Citation: Jm. Fletcher et al., NONKETOTIC HYPERGLYCINEMIA PRESENTING AS PACHYGYRIA, Journal of inherited metabolic disease, 18(6), 1995, pp. 665-668
Authors:
HAMMOND JW
POTTER M
WILCKEN B
TRUSCOTT R
Citation: Jw. Hammond et al., SIBLINGS WITH GAMMA-GLUTAMYL-TRANSFERASE DEFICIENCY, Journal of inherited metabolic disease, 18(1), 1995, pp. 82-83
Authors:
WILCKEN B
WILEY V
SHERRY G
BAYLISS U
Citation: B. Wilcken et al., NEONATAL SCREENING FOR CYSTIC-FIBROSIS - A COMPARISON OF 2 STRATEGIESFOR CASE DETECTION IN 1.2-MILLION BABIES, The Journal of pediatrics, 127(6), 1995, pp. 965-970
Authors:
CHRISTODOULOU J
HOARE J
HAMMOND J
IP WC
WILCKEN B
Citation: J. Christodoulou et al., NEONATAL ONSET OF MEDIUM-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY WITH CONFUSING BIOCHEMICAL FEATURES, The Journal of pediatrics, 126(1), 1995, pp. 65-68
Authors:
FALK MC
KNIGHT JF
ROY LP
WILCKEN B
SCHELL DN
OCONNELL AJ
GILLIS J
Citation: Mc. Falk et al., CONTINUOUS VENOVENOUS HEMOFILTRATION IN THE ACUTE TREATMENT OF INBORN-ERRORS OF METABOLISM, Pediatric nephrology, 8(3), 1994, pp. 330-333
Authors:
WILCKEN B
HAMMOND J
SILINK M
Citation: B. Wilcken et al., MORBIDITY AND MORTALITY IN MEDIUM-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY, Archives of Disease in Childhood, 70(5), 1994, pp. 410-412
Authors:
WILCKEN B
Citation: B. Wilcken, ACID SOAPS IN THE FISH ODOR SYNDROME, BMJ. British medical journal, 307(6917), 1993, pp. 1497-1497
Authors:
WILCKEN B
PITT J
HEATH D
WALSH P
WILSON G
BUCHANAN N
Citation: B. Wilcken et al., L-2-HYDROXYGLUTARIC ACIDURIA - 3 AUSTRALIAN CASES, Journal of inherited metabolic disease, 16(3), 1993, pp. 501-504
Authors:
WILCKEN B
CARPENTER KH
HAMMOND J
Citation: B. Wilcken et al., NEONATAL SYMPTOMS IN MEDIUM-CHAIN ACYL COENZYME-A DEHYDROGENASE-DEFICIENCY, Archives of Disease in Childhood, 69(3), 1993, pp. 292-294
Risultati:
1-22
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