Catch-up growth in Fanconi - Bickel syndrome with uncooked cornstarch (Unknown)
- New search for: Lee, P. J.
- New search for: Van't Hoff, W. G.
- New search for: Leonard, J. V.
- New search for: Lee, P. J.
- New search for: Van't Hoff, W. G.
- New search for: Leonard, J. V.
In:
JOURNAL OF INHERITED METABOLIC DISEASE
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18
, 2
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153
;
1995
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ISSN:
- Article (Journal) / Print
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Title:Catch-up growth in Fanconi - Bickel syndrome with uncooked cornstarch
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Contributors:
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Published in:JOURNAL OF INHERITED METABOLIC DISEASE ; 18, 2 ; 153
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Publisher:
- New search for: KLUWER ACADEMIC PUB
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Publication date:1995-01-01
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Size:153 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:Unknown
- New search for: 616.39
- Further information on Dewey Decimal Classification
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Classification:
DDC: 616.39 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 18, 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.
- 105
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Preface| 1995
- 106
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Free communications| 1995
- 111
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Tyrosinaemia type I: considerations of treatment strategy and experiences with risk assessment, diet and transplantationvan Spronsen, F. J. / Smit, G. P. A. / Wijburg, F. A. / Thomasse, Y. / Visser, G. / Heymans, H. S. A. et al. | 1995
- 115
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Liver transplantation in tyrosinaemia type I: the Groningen experienceWijburg, F. A. / Reitsma, W. Ch. C. / Slooff, M. J. H. / van Spronsen, F. J. / Koetse, H. A. / Reijngoud, D. J. / Smit, G. P. A. / Berger, R. / Bijleveld, C. M. A. et al. | 1995
- 119
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Liver transplantation in nine Spanish patients with tyrosinaemia type IPérez‐Cerdá, C. / Merinero, B. / Sanz, P. / Castro, M. / Gangoiti, J. / García, M. J. / Díaz, M. / Medina, E. / Ugarte, M. et al. | 1995
- 123
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Plasma antioxidant capacity in two cases of tyrosinaemia type 1: one case treated with NTBCBird, S. / Miller, N. J. / Collins, J. E. / Rice‐Evans, C. A. et al. | 1995
- 127
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Nutritional value of essential amino acids in the treatment of adults with phenylketonuriaDotremont, H. / François, B. / Diels, M. / Gillis, P. et al. | 1995
- 131
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Improvements in behaviour and physical manifestations in previously untreated adults with phenylketonuria using a phenylalanine‐restricted diet: a national surveyYannicelli, S. / Ryan, A. et al. | 1995
- 135
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Physical growth in patients with phenylketonuriaDhondt, J. L. / Largillière, C. / Moreno, L. / Farriaux, J. P. et al. | 1995
- 138
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Long‐term follow‐up of 77 patients with isolated methylamalonic acidaemiaBaumgarter, E. R. / Viardot, C. et al. | 1995
- 138
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Long-term follow-up of 77 patients with isolated methylmalonic acidaemiaBaumgartner, E. R. / Viardot, C. et al. | 1995
- 143
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Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiencyGibson, K. M. / Jakobs, C. / Ogier, H. / Hagenfeldt, L. / Eeg‐Olofsson, K. Edebol / Eeg‐Olofsson, O. / Aksu, F. / Weber, H. ‐P. / Rossier, E. / Vollmer, B. et al. | 1995
- 147
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Biochemical follow‐up in late‐treated nephropathic cystinosisVilaseca, M. A. / Camacho, J. A. / Briones, P. / Farré, C. / Mas, A. et al. | 1995
- 151
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Galactosaemia: relationship of IQ to biochemical control and genotypeCleary, M. A. / Heptinstall, L. E. / Wraith, J. E. / Walter, J. H. et al. | 1995
- 153
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Catch‐up growth in Fanconi‐Bickel syndrome with uncooked cornstarchLee, P. J. / Van't Hoff, W. G. / Leonard, J. V. et al. | 1995
- 157
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Four-year follow-up of bone-marrow transplantation in late juvenile metachromatic leukodystrophyNavarro, C. / Dominguez, C. / Fernandez, J. M. / Fachal, C. et al. | 1995
- 157
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Case report: Four‐year follow‐up of bone‐marrow transplantation in late juvenile metachromatic leukodystrophyNavarro, C. / Domínguez, C. / Fernández, J. M. / Fachal, C. / Alvárez, M. et al. | 1995
- 159
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Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantationGuffon, N. / Souillet, G. / Maire, I. / Dorche, C. / Mathieu, M. / Guibaud, P. et al. | 1995
- 162
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Defective neutrophil activity in fructose‐1,6‐diphosphatase deficiencyBiasucci, G. / Gigliotti, M. / Luotti, D. / Bertagnolio, B. / Riva, E. et al. | 1995
- 165
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Immunosuppressive effects of organic acids accumulating in patients with maple syrup urine diseaseWajner, M. / Schlottfeldt, J. L. / Ckless, K. / Wannmacher, C. M. D. et al. | 1995
- 169
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Acute pancreatitis in propionic acidaemiaBurlina, A. B. / Dionisi‐Vici, C. / Piovan, S. / Saponara, I. / Bartuli, A. / Sabetta, G. / Zacchello, F. et al. | 1995
- 173
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Early signs and course of disease of glutaryl‐CoA dehydrogenase deficiencyHoffmann, G. F. / Böhles, H. J. / Burlina, A. / Duran, M. / Herwig, J. / Lehnert, W. / Leonard, J. V. / Muntau, A. / Plecko‐Starting, F. K. / Superti‐Furga, A. et al. | 1995
- 177
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Folinic acid responsive seizures: a new syndrome?Hyland, K. / Buist, N. R. M. / Powell, B. R. / Hoffman, G. F. / Rating, D. / McGrath, J. / Acworth, I. N. et al. | 1995
- 182
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Diagnosis of a new case of trimethylaminuria using direct proton NMR spectroscopy of urineAbeling, N. G. G. M. / van Gennip, A. H. / Bakker, H. D. / Heerschap, A. / Engelke, U. / Wevers, R. A. et al. | 1995
- 185
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Combined deficiencies of NADPH‐ and NADH‐dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine‐uraciluriavan Gennip, A. H. / van Lenthe, H / Abeling, N. G. G. M. / Bakker, H. D. / van Kuilenburg, A. B. P. et al. | 1995
- 189
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Organic acids in cerebrospinal fluid and plasma of patients withl‐2‐hydroxyglutaric aciduriaHoffmann, G. F. / Jakobs, C. / Holmes, B. / Mitchell, L. / Becker, G. / Hartung, H. ‐P. / Nyhan, W. L. et al. | 1995
- 194
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d‐2‐Hydroxyglutaric acidaemia: identification of a new enzyme,d‐2‐hydroxyglutarate dehydrogenase, localized in mitochondriaWanders, R. J. A. / Mooyer, P. et al. | 1995
- 197
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Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiencyGoebel‐Schreiner, B. / Schreiner, R. / Hoffmann, G. F. / Gibson, K. M. et al. | 1995
- 201
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Phytanic acid oxidation in man: identification of a new enzyme catalysing the formation of 2‐ketophytanic acid from 2‐hydroxyphytanic acid and its deficiency in the Zellweger syndromeWanders, R. J. A. / van Roermund, C. W. T. / Schor, D. S. M. / ten Brink, H. J. / Jakobs, C. et al. | 1995
- 204
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3‐Hydroxyisobutyric aciduria with a mild clinical courseBoulat, O. / Benador, N. / Girardin, E. / Bachmann, C. et al. | 1995
- 207
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RFLPs for linkage analysis in families with glycogen storage disease type IIIMishori‐Dery, A. / Bashan, N. / Moses, S. / Hershkovitz, E. / Bao, Y. / Chen, Y. T. / Parvari, R. et al. | 1995
- 211
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Molecular analysis of patients affected by homocystinuria due to cystathionine β‐synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11Sperandeo, M. P. / Panico, M. / Pepe, A. / Candito, M. / de Franchis, R. / Kraus, J. P. / Andria, G. / Sebastio, G. et al. | 1995
- 215
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Prenatal diagnosis for Canavan disease: the use of DNA markersMatalon, R. / Kaul, R. / Gao, G. P. / Michals, K. / Gray, R. G. F. / Bennett‐Briton, S. / Norman, A. / Smith, M. / Jakobs, C. et al. | 1995
- 218
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DIDMOAD syndrome; further studies and muscle biochemistryBarrett, T. G. / Poulton, K. / Bundey, S. et al. | 1995
- 221
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Mitochondrial complex deficiencies in a male with cardiomyopathy and 3‐methylglutaconic aciduriaBesley, G. T. N. / Lendon, M. / Broadhead, D. M. / Till, J. / Heptinstall, L. E. / Phillips, B. et al. | 1995
- 224
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KBS‐DIAMET: database and expert system for diagnosis and treatment of patients with inborn errors of metabolismMischke, U. / Fraudendienst‐Egger, G. / Matthis, P. / Gao, P. / Trefz, F. K. et al. | 1995
- 227
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Riboflavin‐responsive epilepsy in a patient with SER209 variant form of short‐chain acyl‐CoA dehydrogenaseKmoch, S. / Zeman, J. / Hrebíček, M. / Ryba, L. / Kristensen, M. J. / Gregersen, N. et al. | 1995
- 230
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A patient with lethal cardiomyopathy and a carnitine — acylcarnitine translocase deficiencyNiezen‐Koning, K. E. / van Spronsen, F. J. / Ijlst, L. / Wanders, R. J. A. / Brivet, M. / Duran, M. / Reijngoud, D. J. / Heymans, H. S. A. / Smit, G. P. A. et al. | 1995
- 230
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A patient with lethal cardiomyopathy and a carnitine-acylcarnithine translocase deficiencyNiezen-Koning, K. E. / Van Spronsen, F. J. / Ijlst, L. / Wanders, R. J. A. et al. | 1995
- 233
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Six years' experience with carnitine supplementation in a patient with an inherited defective carnitine transport systemChristensen, E. / Vikre‐Jørgensen, J. et al. | 1995
- 237
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Clinical and biochemical findings in a Spanish boy with primary carnitine deficiencyBriones, P. / Garavaglia, B. / Ribes, A. / Yoldi, M. E. / Rodés, M. / Romero, C. / García‐Bragado, F. et al. | 1995
- 241
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Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotypeIjlst, L. / Uskikubo, S. / Kamijo, T. / Hashimoto, T. / Ruiter, J. P. N. / de Klerk, J. B. C. / Wanders, R. J. A. et al. | 1995
- 245
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Clinical and biochemical presentation of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiencyHagenfeldt, L. / Venizelos, N. / von Döbeln, U. et al. | 1995
- 249
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Mitochondropathy presenting with non‐ketotic hypoglycaemia as 3‐hydroxydicarboxylic aciduriaMayatepek, E. / Wanders, R. J. A. / Becker, M. / Bremer, H. J. / Hoffmann, G. F. et al. | 1995
- 253
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Is genotyping useful for the screening of medium‐chain acyl‐CoA dehydrogenase deficiency in France?Ged, C. / El Sebai, H. / de Verneuil, H. / Parrot‐Rouleau, F. et al. | 1995
- 257
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Do criteria exist from urinary organic acids to distinguish β‐oxidation defects?Rabier, D. / Bardet, J. / Parvy, Ph. / Poggi, F. / Brivet, M. / Saudubray, J. M. / Kamoun, P. et al. | 1995