Red‐cell thiamine pyrophosphate levels in hypophosphatasia (English)
- New search for: Iqbal, S. J.
- New search for: Talwar, D.
- New search for: Davies, T.
- New search for: Iqbal, S. J.
- New search for: Talwar, D.
- New search for: Davies, T.
In:
Journal of Inherited Metabolic Disease
;
22
, 1
;
95-96
;
1999
- Article (Journal) / Electronic Resource
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Title:Red‐cell thiamine pyrophosphate levels in hypophosphatasia
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Contributors:
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Published in:Journal of Inherited Metabolic Disease ; 22, 1 ; 95-96
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Publisher:
- New search for: Kluwer Academic Publishers
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Publication date:1999-02-01
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Size:2 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 1
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.
- 1
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3‐Methylglutaconic aciduria type I: Clinical heterogeneity as a neurometabolic diseaseShoji, Y. / Takahashi, T. / Sawaishi, Y. / Ishida, A. / Matsumori, M. / Shoji, Ya. / Enoki, M. / Watanabe, H. / Takada, G. et al. | 1999
- 9
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Identification of new medium‐chain acylcarnitines present in urine of a patient with medium‐chain acyl‐CoA dehydrogenase deficiencyLibert, R. / Van Hoof, F. / Thillaye, M. / Vincent, M.‐F. / Nassogne, M.‐C. / Stroobant, V. / de Hoffmann, E. / Schanck, A. et al. | 1999
- 19
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The human NADH:ubiquinone oxidoreductase NDUFS5 (15kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I‐deficient patientsLoeffen, J. / Smeets, R. / Smeitink, J. / Triepels, R. / Sengers, R. / Trijbels, F. / van den Heuvel, L. et al. | 1999
- 29
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Transport of phytanic acid on lipoproteins in Refsum diseaseWierzbicki, A. S. / Sankaralingam, A. / Lumb, P. J. / Hardman, T. C. / Sidey, M. C. / Gibberd, F. B. et al. | 1999
- 37
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The molecular basis of transferase galactosaemia in South African negroidsManga, N. / Jenkins, T. / Jackson, H. / Whittaker, D. A. / Lane, A. B. et al. | 1999
- 43
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Mutations in the glucose‐6‐phosphatase gene of 53 Italian patients with glycogen storage disease type IaStroppiano, M. / Regis, S. / DiRocco, M. / Caroli, F. / Gandullia, P. / Gatti, R. et al. | 1999
- 50
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Bone marrow transplantation for Maroteaux–Lamy syndrome (MPS VI): Long‐term follow‐upHerskhovitz, E. / Young, E. / Rainer, J. / Hall, C. M. / Lidchi, V. / Chong, K. / Vellodi, A. et al. | 1999
- 63
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Severe skeletal complications in Japanese patients with type 1 Gaucher diseaseIda, H. / Rennert, O. M. / Kato, S. / Ueda, T. / Oishi, K. / Maekawa, K. / Eto, Y. et al. | 1999
- 74
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Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinicsOhura, T. / Abukawa, D. / Shiraishi, H. / Yamaguchi, A. / Arashima, S. / Hiyamuta, S. / Tada, K. / Iinuma, K. et al. | 1999
- 74
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Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatients clinicsOhura, T. / Abukawa, D. / Shiraishi, H. / Yamaguchi, A. / Arashima, S. / Tada, H. K. / Iinuma, K. et al. | 1999
- 81
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Pyloric stenosis in a boy with non-ketonic hyperglycinaemiaAl-Essa, M. / Ozand, P. T. et al. | 1999
- 81
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Pyloric stenosis in a boy with non‐ketotic hyperglycinaemiaAl‐Essa, M. / Ozand, P. T. et al. | 1999
- 82
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Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181GTopaloglu, A. K. / Sansaricq, C. / Fox, J. E. / Bale, A. E. / Tuchman, M. / Desnick, R. J. et al. | 1999
- 84
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An adult with a non‐neuronopathic form of Niemann_Pick C diseaseFensom, A. H. / Grant, A. R. / Steinberg, S. J. / Ward, C. P. / Lake, B. D. / Logan, E. C. / Hulman, G. et al. | 1999
- 86
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Aplastic anaemia in association with Kearns_Sayre syndromeLeung, T. F. / Hui, J. / Shoubridge, E. / Li, C. K. / Chik, K. W. / Shing, M. M. K. / Wong, G. W. K. / Yeung, W. L. / Yuen, P. M. P. et al. | 1999
- 88
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Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type IIManning, N. J. / Bonham, J. R. / Downing, M. / Edwards, R. G. / Olpin, S. E. / Pollitt, R. J. / Pourfarzam, M. / Sharrard, M. J. / Tanner, M. S. et al. | 1999
- 90
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The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patientsVilarinho, L. / Chorão, R. / Cardoso, M. L. / Rocha, H. / Nogueira, C. / Santorelli, F. M. et al. | 1999
- 92
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Three novel and one recurrent ornithine carbanoyltransferase gene mutations in Polish patientsPopowska, E. / Ciara, E. / Rokicki, D. / Pronicka, E. et al. | 1999
- 92
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Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patientsPopowska, E. / Ciara, E. / Rokicki, D. / Pronicka, E. et al. | 1999
- 93
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Fatal genetic defect causing Wolman diseaseMayatepek, E. / Seedorf, U. / Wiebusch, H. / Lenhartz, H. / Assmann, G. et al. | 1999
- 95
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Red‐cell thiamine pyrophosphate levels in hypophosphatasiaIqbal, S. J. / Talwar, D. / Davies, T. et al. | 1999