Holocarboxylase synthetase deficiency: Report of a case with onset in late infancy (English)
- New search for: Touma, E.
- New search for: Suormala, T.
- New search for: Baumgartner, E. R.
- New search for: Gerbaka, B.
- New search for: Ogier de Baulny, H.
- New search for: Loiselet, J.
- New search for: Touma, E.
- New search for: Suormala, T.
- New search for: Baumgartner, E. R.
- New search for: Gerbaka, B.
- New search for: Ogier de Baulny, H.
- New search for: Loiselet, J.
In:
Journal of Inherited Metabolic Disease
;
22
, 2
;
115-122
;
1999
- Article (Journal) / Electronic Resource
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Title:Holocarboxylase synthetase deficiency: Report of a case with onset in late infancy
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Contributors:Touma, E. ( author ) / Suormala, T. ( author ) / Baumgartner, E. R. ( author ) / Gerbaka, B. ( author ) / Ogier de Baulny, H. ( author ) / Loiselet, J. ( author )
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Published in:Journal of Inherited Metabolic Disease ; 22, 2 ; 115-122
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Publisher:
- New search for: Kluwer Academic Publishers
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Publication date:1999-04-01
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Size:8 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Source:
Table of contents – Volume 22, Issue 2
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 99
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Hypothesis: Molecular water pumps and the aetiology of Canavan disease: A case of the sorcerer's apprenticeBaslow, M. H. et al. | 1999
- 102
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Successful pregnancy outcome in a woman with argininosuccinate lyase deficiencyMardach, M. R. / Roe, K. / Cederbaum, S. D. et al. | 1999
- 107
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4,5‐Dimethyl‐3‐hydroxy‐2[5H]‐furanone (sotolone) — The odour of maple syrup urine diseasePodebrad, F. / Heil, M. / Reichert, S. / Mosandl, A. / Sewell, A. C. / Böhles, H. et al. | 1999
- 115
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Holocarboxylase synthetase deficiency: Report of a case with onset in late infancyTouma, E. / Suormala, T. / Baumgartner, E. R. / Gerbaka, B. / Ogier de Baulny, H. / Loiselet, J. et al. | 1999
- 123
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Dietary management of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD). A case report and surveyGillingham, M. / Van Calcar, S. / Ney, D. / Wolff, J. / Harding, C. et al. | 1999
- 132
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Novel mutations in patients with fructose‐1,6‐bisphosphatase deficiencyHerzog, B. / Wendel, U. / Morris, A. A. M. / Eschrich, K. et al. | 1999
- 139
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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. et al. | 1999
- 149
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Glycogen storage disease type 1a in three siblings with the G270V mutationParvari, R. / Isam, J. / Moses, S. W. et al. | 1999
- 149
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Glycogen storage disease type la in three siblings with the G270V mutationParvari, R. / Isam, J. / Moses, S. W. et al. | 1999
- 155
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Molecular heterogeneity of Krabbe diseaseFu, L. / Inui, K. / Nishigaki, T. / Tatsumi, N. / Tsukamoto, H. / Kokubu, C. / Muramatsu, T. / Okada, S. et al. | 1999
- 163
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The human nuclear‐encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathologyTriepels, R. / Smeitink, J. / Loeffen, J. / Smeets, R. / Buskens, C. / Trijbels, F. / van den Heuvel, L. et al. | 1999
- 174
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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. et al. | 1999
- 185
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Multifocal bursitis in a patient with homozygous homocystinuriaHaedecke, C. / Anders, A.‐J. / Kellner, H. / Weiss, N. et al. | 1999
- 187
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Adult Sandhoff disease presenting with chronic diarrhoeaGomez‐Brouchet, A. / Cintas, P. / Lagier, E. / Voisin, T. / Delisle, M. B. / Fabre, N. / Gérand, G. / Salvayre, R. / Levade, T. et al. | 1999
- 189
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Metabolic decompensation and lactic acidosis in propionic acidaemia complicated by thiamine deficiencyMayatepek, E. / Schulze, A. et al. | 1999
- 191
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Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutationVan Kuilenburg, A. B. P. / Vreken, P. / Riva, D. / Botteon, G. / Abeling, N. G. G. M. / Bakker, H. D. / Van Gennip, A. H. et al. | 1999
- 192
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Carbohydrate‐deficient glycoprotein syndrome type 2Engelhardt, H. / Staudt, M. / Hässler, A. / Holzbach, U. / Freisinger, P. / Krägeloh‐mann, I. et al. | 1999
- 194
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Hormone replacement therapy in galactosaemic twins with ovarian failure and severe osteoporosisRenner, C. / Razeghi, S. / Überall, M. A. / Licht, P. / Wildt, L. / Dörr, H. G. / Hensen, J. / Schweitzer, S. et al. | 1999
- 195
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Primary pneumococcal peritonitis associated with tyrosinaemia type 1Gill, D. S. / Lipscomb, A. P. et al. | 1999
- 197
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A case of Menkes syndrome with pyloric stenosis: An effect of copper deficiency on NOS1?Cunningham, S. / Crofton, P. M. / Marshall, T. G. / Fitzpatrick, D. R. et al. | 1999
- 198
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Succinic semialdehyde dehydrogenase deficiency in siblings: Clinical heterogeneity and response to early treatmentPeters, H. / Cleary, M. / Boneh, A. et al. | 1999
- 200
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Muscle strength in children with medium‐chain acyl‐CoA dehydrogenase deficiencyCusters, J. W. H. / Poll‐The, B. T. / Duran, M. / de Klerk, J. B. C. / Uiterwaal, C. S. P. M. / Helders, P. J. M. et al. | 1999
- 201
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Inaccurate measurement of free carnitine by the electrospray tandem mass spectrometer screening method for blood spotsJohnson, D. W. et al. | 1999
- 201
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Inaccurate measurement of free carnitine by the electrospray tandem mass spectrometry screening method for blood spotsJohnson, D. W. et al. | 1999
- 203
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Enzyme replacement therapy in type III Gaucher diseaseTylki‐szymańska, A. / Czartoryska, B. et al. | 1999