Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Early morning urine galactitol levels in relation to galactose intake: A possible method of monitoring the diet in galactokinase deficiencyAllen, J. T. ; Holton, J. B. ; Lennox, A. C. ; Hodges, I. C.Journal of inherited metabolic disease, 1988-06, Vol.11 (S2), p.243-245 [Periódico revisado por pares]Dordrecht: Kluwer Academic PublishersTexto completo disponível |
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2 |
Material Type: Artigo
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Prenatal diagnosis of disorders of galactose metabolismHolton, J. B. ; Allen, J. T. ; Gillett, M. G.Journal of inherited metabolic disease, 1989-03, Vol.12 (1), p.202-206 [Periódico revisado por pares]Dordrecht: Kluwer Academic PublishersTexto completo disponível |
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3 |
Material Type: Artigo
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Arginosucinate synthetase deficiency : good outcom despite severe neonatal hyperammonaemiaWALTER, J. H ; ALLEN, J. T ; HOLTON, J. BJournal of inherited metabolic disease, 1992, Vol.15 (2), p.282-283 [Periódico revisado por pares]Dordrecht: SpringerTexto completo disponível |
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4 |
Material Type: Artigo
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ARGININOSUCCINATE SYNTHETASE DEFICIENCY - GOOD OUTCOME DESPITE SEVERE NEONATAL HYPERAMMONEMIAWALTER, JH ; ALLEN, JT ; HOLTON, JBJournal of inherited metabolic disease, 1992-01, Vol.15 (2), p.282-283 [Periódico revisado por pares]DORDRECHT: KLUWER ACADEMIC PUBLTexto completo disponível |
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5 |
Material Type: Artigo
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Arginosuccinate synthetase deficiency: good outcome despite severe neonatal hyperammonaemiaWalter, J. H. ; Allen, J. T. ; Holton, J. B.Journal of inherited metabolic disease, 1992-03, Vol.15 (2), p.282-283 [Periódico revisado por pares]Dordrecht: Kluwer Academic PublishersTexto completo disponível |
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6 |
Material Type: Artigo
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UDP‐glucose and UDP‐galactose concentrations in cultured skin fibroblasts of patients with classical galactosaemiaKeevill, N. J. ; Holton, J. B. ; Allen, J. T.Journal of inherited metabolic disease, 1994-01, Vol.17 (1), p.23-26 [Periódico revisado por pares]Dordrecht: Kluwer Academic PublishersTexto completo disponível |
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7 |
Material Type: Artigo
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Frequency of 12 mutations in 114 children with phenylketonuria in the Midwest region of the USAKaul, R. ; Matalon, R. ; Allen, R. ; Fisch, R. O. ; Michals, K. ; Petrosky, A. ; Sullivan, D.Journal of inherited metabolic disease, 1994-05, Vol.17 (3), p.356-358 [Periódico revisado por pares]Dordrecht: Kluwer Academic PublishersTexto completo disponível |
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8 |
Material Type: Artigo
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Biochemical monitoring of treatment for galactosaemia: Biological variability in metabolite concentrationsHutcheson, A. C. J. ; Murdoch‐Davis, C. ; Green, A. ; Preece, M. A. ; Allen, J. ; Holton, J. B. ; Rylance, G.Journal of inherited metabolic disease, 1999-04, Vol.22 (2), p.139-148 [Periódico revisado por pares]Dordrecht: Kluwer Academic PublishersTexto completo disponível |
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9 |
Material Type: Artigo
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The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial diseaseBonham, J. R. ; Guthrie, P. ; Downing, M. ; Allen, J. C. ; Tanner, M. S. ; Sharrard, M. ; Rittey, C. ; Land, J. M. ; Fensom, A. ; O'Neill, D. ; Duley, J. A. ; Fairbanks, L. D.Journal of inherited metabolic disease, 1999-04, Vol.22 (2), p.174-184 [Periódico revisado por pares]Dordrecht: Kluwer Academic PublishersTexto completo disponível |
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10 |
Material Type: Artigo
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Decreased circulating plasma lipids in patients with homocystinuriaMoat, S. J. ; Bonham, J. R. ; Allen, J. C. ; Powers, H. J. ; McDowell, I. F. W.Journal of inherited metabolic disease, 1999-05, Vol.22 (3), p.243-246 [Periódico revisado por pares]Dordrecht: Kluwer Academic PublishersTexto completo disponível |