Disorders related to mitochondrial membranes: Pathology of the respiratory chain and neurodegeneration (Englisch)
- Neue Suche nach: Di Donato, S.
- Neue Suche nach: Di Donato, S.
In:
JOURNAL OF INHERITED METABOLIC DISEASE
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23
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247-263
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2000
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ISSN:
- Aufsatz (Zeitschrift) / Print
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Titel:Disorders related to mitochondrial membranes: Pathology of the respiratory chain and neurodegeneration
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Beteiligte:Di Donato, S. ( Autor:in )
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Erschienen in:JOURNAL OF INHERITED METABOLIC DISEASE ; 23 ; 247-263
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Verlag:
- Neue Suche nach: KLUWER ACADEMIC PUB
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Erscheinungsdatum:01.01.2000
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Format / Umfang:17 pages
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ISSN:
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Medientyp:Aufsatz (Zeitschrift)
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Format:Print
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Sprache:Englisch
- Neue Suche nach: 616.39
- Weitere Informationen zu Dewey Decimal Classification
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Klassifikation:
DDC: 616.39 -
Datenquelle:
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- 1
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Contents / Preface| 2000
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Editorial changes| 2000
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Abstracts to VIIIth International Conference on Inborn Errors of Metabolism Cambridge, UK, 13–17 September 2000| 2000
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Psychiatric symptoms of inherited metabolic diseaseEstrov, Y. / Scaglia, F. / Bodamer, O. A. F. et al. | 2000
- 7
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Brain phenylalanine concentration in the management of adults with phenylketonuriaMoats, R. A. / Koch, R. / Moseley, K. / Guldberg, P. / Guttler, F. / Boles, R. G. / Nelson, M. D. Jr. et al. | 2000
- 15
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Treatment of late‐onset nonketotic hyperglycinaemia: Effectiveness of imipramine and benzoateWiltshire, E. J. / Poplawski, N. K. / Harrison, J. R. / Fletcher, J. M. et al. | 2000
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Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemiaNeuberger, J. M. / Schweitzer, S. / Rolland, M.‐O. / Burghard, R. et al. | 2000
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Acylcarnitines in fibroblasts of patients with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency and other fatty acid oxidation disordersShen, J. J. / Matern, D. / Millington, D. S. / Hillman, S. / Feezor, M. D. / Bennett, M. J. / Qumsiyeh, M. / Kahler, S. G. / Chen, Y.‐T. / Van Hove, J. L. K. et al. | 2000
- 45
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Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvementTouati, G. / Rusthoven, E. / Depondt, E. / Dorche, C. / Duran, M. / Heron, B. / Rabier, D. / Russo, M. / Saudubray, J. M. et al. | 2000
- 54
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Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann–Pick C miceErickson, R. P. / Garver, W. S. / Camargo, F. / Hossian, G. S. / Heidenreich, R. A. et al. | 2000
- 63
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A non-glycosylated functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD)Wrobe, D. / Henseler, M. / Huettler, S. / Pascual Pascual, S. I. / Chabas, A. / Sandhoff, K. et al. | 2000
- 63
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A non‐glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP‐B) in a novel case of metachromatic leukodystrophy (MLD)Wrobe, D. / Henseler, M. / Huettler, S. / Pascual Pascual, S. I. / Chabas, A. / Sandhoff, K. et al. | 2000
- 77
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The natural course of Gaucher disease in The Netherlands: Implications for monitoring of disease manifestationsMaaswinkel‐Mooij, P. / Hollak, C. / Van Eysden‐Plaisier, M. / Prins, M. / Aerts, H. / Pöll, R. et al. | 2000
- 83
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Neurological deterioration in adult phenylketonuriaWeglage, J. / Oberwittler, C. / Marquardt, T. / Schellscheidt, J. / Teeffelen‐Heithoff, A.v. / Koch, G. / Gerding, H. et al. | 2000
- 85
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The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemiaIerardi‐Curto, L. / Kaplan, P. / Saitta, S. / Mazur, A. / Berry, G. T. et al. | 2000
- 86
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Protein, glucose and energy metabolism in Gaucher disease type IBodamer, O. A. F. / Vellodi, A. et al. | 2000
- 88
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Increased urine heparan and chondroitin sulphate excretion in patients with osteopetrosisSteiner, R. D. / Whyte, M. P. / Chang, E. / Hanks, J. / Mattes, C. / Senephansiri, H. / Gibson, K. M. et al. | 2000
- 91
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Pyridoxine‐responsive nephrocalcinosis and glycolic aciduria in two siblings without hyperoxaluria and with normal alanine:glyoxalate aminotransferase activityKist‐van Holthe, J. E. / Onkenhout, W. / van der Heijden, A. J. et al. | 2000
- 95
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Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type IIIFukuda, T. / Sugie, H. / Ito, M. et al. | 2000
- 107
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Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type IaTrioche, P. / Francoual, J. / Capel, L. / Odièvre, M. / Lindenbaum, A. / Labrune, P. et al. | 2000
- 113
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Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22:1)‐rich triglyceridesBarmaki Pour, R. / Stöckler‐Ipsiroglu, S. / Hunneman, D. H. / Gahr, M. / Korenke, G. C. / Pabst, W. / Hanefeld, F. / Peters, A. et al. | 2000
- 120
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Novel mutations cause biotinidase deficiency in Turkish childrenPomponio, R. J. / Coskun, T. / Demirkol, M. / Tokatli, A. / Ozalp, I. / Hüner, G. / Baykal, T. / Wolf, B. et al. | 2000
- 129
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Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemiaPraphanproj, V. / Boyadjiev, S. A. / Waber, L. J. / Brusilow, S. W. / Geraghty, M. T. et al. | 2000
- 137
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Pulmonary hypertension associated with nonketotic hyperglycinaemiaÇataltepe, S. / van Marter, L. J. / Kozakewich, H. / Wessel, D. L. / Lee, P. J. / Levy, H. L. et al. | 2000
- 145
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Tripeptidyl‐peptidase I deficiency in classical late‐infantile neuronal ceroid lipofuscinosis brain tissue. Evidence for defective peptidase rather than proteinase activityWarburton, M. J. / Bernardini, F. et al. | 2000
- 155
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Multiple mtDNA deletions: Clinical and molecular correlationsSantorelli, F. M. / De Joanna, G. / Casali, C. / Tessa, A. / Siciliano, G. / Amabile, G. A. / Pierelli, F. / Vilarinho, L. / Santoro, L. et al. | 2000
- 162
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Genotypes and phenotypes of patients in the UK with carbohydrate‐deficient glycoprotein syndrome type 1Imtiaz, F. / Worthington, V. / Champion, M. / Beesley, C. / Charlwood, J. / Clayton, P. / Keir, G. / Mian, N. / Winchester, B. et al. | 2000
- 175
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The increased sensitivity of neurons with elevated glucocerebroside to neurotoxic agents can be reversed by imiglucerasePelled, D. / Shogomori, H. / Futerman, A. H. et al. | 2000
- 185
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Novel mutations in children with profound biotinidase deficiency from Saudi ArabiaPomponio, R. J. / Ozand, P. T. / Al Essa, M. / Wolf, B. et al. | 2000
- 188
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Long‐chain hydroxydicarboxylic aciduria, carnitine depletion and acetaminophen exposureNowaczyk, M. J. M. / Whelan, D. / Hill, R. E. / Clarke, J. T. C. / Pollitt, R. J. et al. | 2000
- 190
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Acute pancreatitis in homocystinuriaMakins, R. J. / Gertner, D. J. / Lee, P. J. et al. | 2000
- 195
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Preface: The 37th Annual Symposium of the SSIEM – Genova 1999The Editors et al. | 2000
- 197
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Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosisSaudubray, J. M. / De Lonlay, P. / Touati, G. / Martin, D. / Nassogne, M. C. / Castelnau, P. / Sevin, C. / Laborde, C. / Baussan, C. / Brivet, M. et al. | 2000
- 215
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The adult and adolescent clinic for inborn errors of metabolismBrenton, D. P. et al. | 2000
- 229
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Inborn errors of metabolism and pregnancyWalter, J. H. et al. | 2000
- 237
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Glucose transporters: Structure, function and consequences of deficiencyBrown, G. K. et al. | 2000
- 247
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Disorders related to mitochondrial membranes: Pathology of the respiratory chain and neurodegenerationDi Donato, S. et al. | 2000
- 264
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Disorders related to peroxisomal membranesGärtner, J. et al. | 2000
- 273
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Therapy of X‐linked adrenoleukodystrophy: Prognosis based upon age and MRI abnormality and plans for placebo‐controlled trialsMoser, H. W. / Bezman, L. / Lu, S. E. / Raymond, G. V. et al. | 2000
- 278
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Lysosomal transport disordersMancini, G. M. S. / Havelaar, A. C. / Verheijen, F. W. et al. | 2000
- 293
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Gene therapy/cell therapy for lysosomal storage diseaseEto, Y. / Ohashi, T. et al. | 2000
- 299
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Preface| 2000
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Mutations affecting the β–β homomeric interaction in propionic acidaemia: An approach to the determination of the β‐propionyl‐CoA carboxylase functional domainsMuro, S. / Pérez, B. / Rodríguez‐Pombo, P. / Desviat, L. R. / Pérez‐Cerd´, C. / Ugarte, M. et al. | 2000
- 300
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Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: An approach towards the determination of the beta-propionyl-CoA carboxylase functional domainsMuro, S. / Perez, B. / Rodriguez-Pombo, P. / Desviat, L. R. / Perez-Cerda, C. / Ugarte, M. et al. | 2000
- 305
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Oral lysine feeding in gyrate atrophy with hyperornithinaemia – A pilot studyPeltola, K. / Heinonen, O. J. / Näntö‐Salonen, K. / Pulkki, K. / Simell, O. et al. | 2000
- 308
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Two novel mutations (E86A, R113W) in arginosuccinate lyase deficiency and evidence for highly variable splicing of the human arginosuccinate lyase geneLinnebank, M. / Homberger, A. / Rapp, B. / Winter, C. / Marquardt, T. / Harms, E. / Koch, H. G. et al. | 2000
- 308
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Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase geneLinnebank, M. / Homberger, A. / Rapp, B. / Winter, C. / Marquardt, T. / Harms, E. / Koch, H. G. et al. | 2000
- 313
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Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatmentBurlina, A. B. / Bonafé, L. / Ferrari, V. / Suppiej, A. / Zacchello, F. / Burlina, A. P. et al. | 2000
- 317
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Derangement of the dopaminergic system in phenylketonuria: Study of the event‐related potential (P300)Leuzzi, V. / Seri, S. / Cerquiglini, A. / Carducci, Cl. / Carducci, Ca. / Antonozzi, I. et al. | 2000
- 321
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The influence of L‐dopa on methylation capacity in aromatic L‐amino acid decarboxylase deficiency: Biochemical findings in two patientsBräutigam, C. / Wevers, R. A. / Hyland, K. / Sharma, R. K. / Knust, A. / Hoffmann, G. F. et al. | 2000
- 325
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Pathobiochemical implications of hyperdopaminuria in patients with aromatic L‐amino acid decarboxylase deficiencyAbeling, N. G. G. M. / Bräutigam, C. / Hoffmann, G. F. / Barth, P. G. / Wevers, R. A. / Jaeken, J. / Fiumara, A. / Knust, A. / van Gennip, A. H. et al. | 2000
- 329
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Deprenyl in the treatment of patients with tetrahydrobiopterin deficienciesSchuler, Á. / Kálmánchey, R. / Barsi, P. / Somogyi, C. S. / Törös, I. / Váradi, I. / Kovács, Á. / Blau, N. et al. | 2000
- 333
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Genotype–phenotype correlation in dihydropteridine reductase deficiencyde Sanctis, L. / Alliaudi, C. / Spada, M. / Farrugia, R. / Cerone, R. / Biasucci, G. / Meli, C. / Zammarchi, E. / Coskun, T. / Blau, N. et al. | 2000
- 338
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Osteoporosis in late‐diagnosed adult homocystinuric patientsParrot, F. / Redonnet‐Vernhet, I. / Lacombe, D. / Gin, H. et al. | 2000
- 341
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3‐Methylglutaconyl‐CoA hydratase deficiency: A new patient with speech retardation as the leading signEnsenauer, R. / Müller, C. B. / Schwab, K. O. / Gibson, K. M. / Brandis, M. / Lehnert, W. et al. | 2000
- 345
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Antenatal expression of multiple acyl‐CoA dehydrogenase deficiencyVianey‐Saban, C. / Bouvier, R. / Cochat, P. / Buenerd, A. / Divry, P. / Dumoulin, R. / Cordier, M. P. et al. | 2000
- 349
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Oxidative abnormalities in Menkes diseaseRizzo, C. / Bertini, E. / Piemonte, F. / Leuzzi, V. / Sabetta, G. / Federici, G. / Luchetti, A. / Dionisi‐Vici, C. et al. | 2000
- 352
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The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsiesHargreaves, I. P. / Heales, S. J. R. / Olpin, S. E. / Morgan‐Hughes, J. A. / Land, J. M. et al. | 2000
- 355
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Methylmalonic acid induces excitotoxic neuronal damage in vitroKölker, S. / Ahlmeyer, B. / Krieglstein, J. / Hoffmann, G. F. et al. | 2000
- 359
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Evaluation of trigger factors of acute encephalopathy in glutaric aciduria type I: Fever and tumour necrosis factor‐αKölker, S. / Ahlmeyer, B. / Krieglstein, J. / Hoffmann, G. F. et al. | 2000
- 359
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Evaluation of trigger factors of acute encephalopathy in glutaric aciduria type I: Fever and tumour necrosis factor-alphaKolker, S. / Ahlemeyer, B. / Krieglstein, J. / Hoffmann, G. F. et al. | 2000
- 363
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Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndromePoll‐The, B. T. / Frenkel, J. / Houten, S. M. / Kuis, W. / Duran, M. / de Koning, T. J. / Dorland, L. / de Barse, M. M. J. / Romeijn, G. J. / Wanders, R. J. A. et al. | 2000
- 367
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Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase geneHouten, S. M. / Frenkel, J. / Kuis, W. / Wanders, R. J. A. / Poll‐The, B. T. / Waterham, H. R. et al. | 2000
- 371
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Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairmentZeman, J. / Krijt, J. / Stratilová, L. / Hansíková, H. / Wenchich, L. / Kmoch, S. / Chrastina, P. / Houštěk, J. et al. | 2000
- 375
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Upregulation of respiratory chain enzymes in guanidinoacetate methyltransferase deficiencyDas, A. M. / Ullrich, K. / Isbrandt, D. et al. | 2000
- 378
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Biochemical and molecular studies in mild flavin monooxygenase 3 deficiencyZschocke, J. / Mayatepek, E. et al. | 2000
- 383
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UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardationShin, Y. S. / Korenke, G.‐C. / Huppke, P. / Knerr, I. / Podskarbi, T. et al. | 2000
- 387
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Haemostatic abnormalities and lupus anticoagulant activity in patients with Gaucher disease type IBarone, R. / Giuffrida, G. / Musso, R. / Carpinteri, G. / Fiumara, A. et al. | 2000
- 391
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Carbohydrate‐deficient glycoprotein syndromes: The Italian experienceDi Rocco, M. / Barone, R. / Adami, A. / Burlina, A. / Carrozzi, M. / Dionisi‐Vici, C. / Gatti, R. / Iannetti, P. / Parini, R. / Raucci, U. et al. | 2000
- 396
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Carbohydrate‐deficient glycoprotein syndrome: Beyond the screenFletcher, J. M. / Matthijs, G. / Jaeken, J. / Van Schaftingen, E. / Nelson, P.V. et al. | 2000
- 399
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Transferrin protein variant mimicking carbohydrate‐deficient glycoprotein syndrome in trisomy 7 mosaicismKnopf, C. / Rod, R. / Jaeken, J. / Berant, M. / Van Schaftingen, E. / Fryns, J. P. / Brill‐Zamir, R. / Gershoni‐Baruch, R. / Lischinsky, S. / Mandel, H. et al. | 2000
- 404
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Defects in the synthesis of cysteinyl leukotrienes: A new group of inborn errors of metabolismMayatepek, E. / Zelezny, R. / Lehmann, W. D. / Hammond, J. W. / Hoffmann, G. F. et al. | 2000
- 409
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Smith–Lemli–Opitz syndrome: Molecular‐genetic analysis of ten familiesKozák, L. / Francová, H. / Hrabincová, E. / Procházková, D. / Jüttnerová, V. / Bzdúch, V. / Šimek, P. et al. | 2000
- 413
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Serum lipids and apolipoproteins in children with the Smith–Lemli–Opitz syndromeBehúlová, D. / Bzdúch, V. / Škodová, J. / Dello Russo, A. / Corso, G. / Ponec, J. / Kasanická, A. et al. | 2000
- 413
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Serum lipids and apolipoproteins in children with the Smith-Lemli-Optiz syndromeBehulova, D. / Bzduch, V. / Skodova, J. / Russo, A. D. / Corso, G. / Ponec, J. / Kasanicka, A. et al. | 2000
- 416
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Perturbation of protein kinase C subtype activation in X‐ALD fibroblasts: Possible involvement of protein kinase C in the pathogenesis of adrenoleukodystrophyBen‐Yaacov, A. / Minichiello, J. / Newgreen, D. / Boneh, A. et al. | 2000
- 421
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Phytanic acid α‐oxidation in man: Identification of 2‐hydroxyphytanoyl‐CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndromeJansen, G. A. / Denis, S. / Verhoeven, N. M. / Jakobs, C. / Wanders, R. J. A. et al. | 2000
- 421
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Phytanic acid alpha-oxidation in man: Identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndromeJansen, G. A. / Denis, S. / Verhoeven, N. M. / Jakobs, C. / Wanders, R. J. A. et al. | 2000
- 425
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Characteristic urine organic acid profile in peroxisomal biogenesis disordersKorman, S. H. / Mandel, H. / Gutman, A. et al. | 2000
- 429
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Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disordersVreken, P. / Valianpour, F. / Overmars, H. / Barth, P. G. / Selhorst, J. J. M. / van Gennip, A. H. / Wanders, R. J. A. et al. | 2000
- 434
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The application of HPLC/ESI tandem mass spectrometry on urine-soaked filter-paper strips for the screening of disorders of pirone and pyrimidine metabolismIto, T. / van Kuilenburg, A. B. P. / Bootsma, A. H. / Haasnoot, A. J. / van Cruchten, A. / Wada, Y. / van Gennip, A. H. et al. | 2000
- 434
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The application of HPLC/ESI tandem mass spectrometry on urine‐soaked filter‐paper strips for the screening of disorders of purine and pyrimidine metabolismIto, T. / van Kuilenburg, A. B. P. / Bootsma, A. H. / Haasnoot, A. J. / van Cruchten, A. / Wada, Y. / van Gennip, A. H. et al. | 2000
- 441
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Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disordersGregersen, N. / Bross, P. / Jørgensen, M. M. / Corydon, T. J. / Andresen, B. S. et al. | 2000
- 448
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Vademecum Metabolicum. Manual of Metabolic Paediatrics. 1st English edition.J. Zschocke and G. F. Hoffmann.Pollitt, R.J. et al. | 2000
- 449
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Proceedings of the 4th International Workshop of the Adrenoleukodystrophy International Research Group (ALD‐IRG), University of York, 3 September 1998Alger, S. / Green, A. / Köhler, W. / Sokolowski, P. / Moser, H. et al. | 2000
- 453
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Bone marrow transplantation for the treatment of X‐linked adrenoleukodystrophySuzuki, Y. / Isogai, K. / Teramoto, T. / Tashita, H. / Shimozawa, N. / Nishimura, M. / Asano, T. / Oda, M. / Kamei, A. / Ishiguro, H. et al. | 2000
- 459
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Short‐term effect of captopril on microalbuminuria in children with glycogen storage disease type IaÖzen, H. / Ciliv, G. / Koçak, N. / Saltik, İ. N. / Yüce, A. / Gürakan, F. et al. | 2000
- 464
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Regulation of cholesterol biosynthetic pathway in patients with the Smith–Lemli–Opitz syndromeHonda, M. / Tint, G. S. / Honda, A. / Salen, G. / Shefer, S. / Batta, A. K. / Matsuzaki, Y. / Tanaka, N. et al. | 2000
- 474
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Erratum| 2000
- 475
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A rapid screening procedure for the diagnosis of peroxisomal disorders: Quantification of very long‐chain fatty acids, as dimethylaminoethyl esters, in plasma and blood spots, by electrospray tandem mass spectrometryJohnson, D. W. et al. | 2000
- 487
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Behavioural and emotional problems in early‐treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controlsWeglage, J. / Grenzebach, M. / Pietsch, M. / Feldmann, R. / Linnenbank, R. / Denecke, J. / Koch, H. G. et al. | 2000
- 497
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Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiencyChambliss, K. L. / Gray, R. G. F. / Rylance, G. / Pollitt, R. J. / Gibson, K. M. et al. | 2000
- 505
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Reduction of large neutral amino acid concentrations in plasma and CSF of patients with maple syrup urine disease during crisesWajner, M. / Coelho, D. M. / Barschak, A. G. / Araújo, P. R. / Pires, R. F. / Lulhier, F. L. G. / Vargas, C. R. et al. | 2000
- 513
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Very high plasma leucine concentrations without neurological symptoms in a patient with classical maple syrup urine diseaseSkladal, D. / Grissenauer, G. / Konstantopoulou, V. / Felber, S. / Sperl, W. et al. | 2000
- 514
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I‐cell disease complicated by unusual dilatative cardiomyopathyMüller, P. / Reichenbach, H. / Möckel, A. / Bührdel, P. et al. | 2000
- 517
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Arginase deficiency presenting with cerebral oedema and failure to thriveHarrington, J. W. / Stiefel, M. / Gianos, E. et al. | 2000
- 518
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The HELLP syndrome associated with fetal medium‐chain acyl‐CoA dehydrogenase deficiencyNelson, J. / Lewis, B. / Walters, B. et al. | 2000
- 520
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Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine levels and moderate methylmalonic aciduriaRandak, C. / Roschinger, W. / Rolinski, B. / Hadorn, H.-B. / Appleforth, D. A. / Roscher, A. A. et al. | 2000
- 520
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Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduriaRandak, C. / Röschinger, W. / Rolinski, B. / Hadorn, H.‐B. / Applegarth, D. A. / Roscher, A. A. et al. | 2000
- 523
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Molecular basis of mild hyperphenylalaninaemia in TurkeyYilmaz, E. / Cali, F. / Romano, V. / Özalp, I. / Coşkun, T. / Tokatli, A. / Kalkanoğlu, H. S. / ÖzgüÇ, M. et al. | 2000
- 525
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Methylenetetrahydrofolate reductase 677C>T mutation and epilepsyOno, H. / Sakamoto, A. / Mizoguchi, N. / Sakura, N. et al. | 2000
- 527
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Identification of a 5′ splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIaUotani, S. / Yamasaki, H. / Takino, H. / Kawasaki, E. / Matsuo, H. / Yamasaki, S. / Jinno, Y. / Niikawa, N. / Ito, M. / Sugie, H. et al. | 2000
- 529
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Isolated and contiguous glycerol kinase gene disorders: A reviewSjarif, D. R. / Ploos van Amstel, J. K. / Duran, M. / Beemer, F. A. / Poll‐The, B. T. et al. | 2000
- 530
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Instructions to Authors| 2000
- 548
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Behaviour and school achievement in patients with early and continuously treated phenylketonuriaStemerdink, B. A. / Kalverboer, A. F. / van der Meere, J. J. / van der Molen, M. W. / Huisman, J. / de Jong, L. W. A. / Slijper, F. M. E. / Verkerk, P. H. / van Spronsen, F. J. et al. | 2000
- 563
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Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuriaLeuzzi, V. / Bianchi, M. C. / Tosetti, M. / Carducci, Cl. / Carducci, Ca. / Antonozzi, I. et al. | 2000
- 571
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Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacylcoenzyme A dehydrogenase deficiencyVan Hove, J. L. / Kahler, S. G. / Feezor, M. D. / Ramakrishna, J. P. / Hart, P. / Treem, W. R. / Shen, J.-J. / Matern, D. / Millington, D. S. et al. | 2000
- 571
-
Acylcarnitines in plasma and blood spots of patients with long‐chain 3‐hydroxyacyl‐coenzyme A dehydrogenase defiencyVan Hove, J. L. K. / Kahler, S. G. / Feezor, M. D. / Ramakrishna, J. P. / Hart, P. / Treem, W. R. / Shen, J.‐J. / Matern, D. / Millington, D. S. et al. | 2000
- 583
-
Quantitative analysis of glucose‐6‐phosphate translocase gene expression in various human tissues and haematopoietic progenitor cellsIhara, K. / Nomura, A. / Hikino, S. / Takada, H. / Hara, T. et al. | 2000
- 593
-
Isolation and characterization of the normal canine β‐galactosidase gene and its mutation in a dog model of GM1‐gangliosidosisWang, Z. H. / Zeng, B. / Shibuya, H. / Johnson, G. S. / Alroy, J. / Pastores, G. M. / Raghavan, S. / Kolodny, E. H. et al. | 2000
- 593
-
Isolation and characterizaton of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosisWang, Z.-H. / Zeng, B. / Shibuya, H. / Johnson, G. S. / Alroy, J. / Pastores, G. M. / Raghavan, S. / Kolodny, E. H. et al. | 2000
- 607
-
Lovastatin does not correct the accumulation of very long‐chain fatty acids in tissues of adrenoleukodystrophy protein‐deficient miceYamada, T. / Shinnoh, N. / Taniwaki, T. / Ohyagi, Y. / Asahara, H. / Horiuchi, I. / Kira, J. et al. | 2000
- 615
-
Rolipram does not normalize very long‐chain fatty acid levels in adrenoleukodystrophy protein‐deficient fibroblasts and miceNetik, A. / Hobel, A. / Rauschka, H. / Molzer, B. / Forss‐Petter, S. / Berger, J. et al. | 2000
- 625
-
Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and childrenMarin‐Garcia, J. / Ananthakrishnan, R. / Goldenthal, M. J. / Pierpont, M. E. et al. | 2000
- 634
-
False positive fructose loading: a pitfall in the diagnosis of fructose‐1,6‐bisphosphatase deficiencyLund, A. M. / Leonard, J. V. et al. | 2000
- 636
-
Cerebral infarction and pancreatitis: possible complications of patients with 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiencyMuroi, J. / Yorifuji, T. / Uematsu, A. / Nakahata, T. et al. | 2000
- 638
-
Smith–Lemli–Opitz syndrome with extremely low plasma cholesterolBzdúch, V. / Behúlová, D. / Kozák, L. / Škodová, J. / Véghová, E. / Dello Russo, A. / Corso, G. / Bauer, F. et al. | 2000
- 641
-
Erythropoietic and hepatic porphyriasGross, U. / Hoffmann, G. F. / Doss, M. O. et al. | 2000
- 662
-
Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infantsRiudor, E. / Arranz, J. A. / Rodés, M. / Rubio, V. / Sentís, M. / Burlina, A. B. et al. | 2000
- 669
-
Mutation detection in 65 families with a possible diagnosis of ornithine transcarbamylase deficiency including 14 novel mutationsGenet, S. / Cranston, T. / Middleton-Price, H. R. et al. | 2000
- 669
-
Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutationsGenet, S. / Cranston, T. / Middleton‐Price, H. R. et al. | 2000
- 677
-
Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemiaWilson, C. J. / Van Wyk, K. G. / Leonard, J. V. / Clayton, P. T. et al. | 2000
- 683
-
High plasma leucine concentrations without neurological symptoms in a patient with classical maple syrup urine diseaseSkladal, D. / Grissenauer, G. / Konstantopoulou, V. / Felker, S. / Sperl, W. et al. | 2000
- 684
-
Effects of ethanol and of alcohol dehydrogenase inhibitors on the reduction of N‐acetylaspartate levels of brain in mice in vivo: a search for substances that may have therapeutic value in the treatment of Canavan diseaseBaslow, M. H. / Suckow, R. F. / Hungund, B. L. et al. | 2000
- 693
-
Differentiation of hair growth cycle from scalp hair roots for the diagnosis of glucose‐6‐phosphate dehydrogenase deficiency in neonatesLin, S.‐Y. / Niu, D.‐M. / Li, M.‐J. / Tu, C.‐P. / Lin, H.‐L. et al. | 2000
- 705
-
A serine/alanine polymorphism in the nucleotide‐binding fold‐2 of the sulphonylurea receptor‐1 (S1369A) is associated with enhanced glucose‐induced insulin secretion during pregnancyKrugluger, W. / Festa, A. / Shnawa, N. / Bucher, J. / Boltz‐Nitulescu, G. / Schernthaner, G. / Hopmeier, P. et al. | 2000
- 713
-
Studies of the V94M‐substituted human UDPgalactose‐4‐epimerase enzyme associated with generalized epimerase‐deficiency galactosaemiaWohlers, T. M. / Fridovich‐Keil, J. L. et al. | 2000
- 730
-
Microphotometric analysis of NADH‐tetrazolium reductase deficiency in fibroblasts of patients with Leber hereditary optic neuropathyMalik, S. / Sudoyo, H. / Marzuki, S. et al. | 2000
- 745
-
Quantitative measurement of total and free 3‐hydroxy fatty acids in serum or plasma samples: short‐chain 3‐hydroxy fatty acids are not esterifiedJones, P. M. / Burlina, A. B. / Bennett, M. J. et al. | 2000
- 751
-
A new case of 2‐methylacetoacetyl‐CoA thiolase deficiency?Renom, G. / Fontaine, M. / Rolland, M. O. / Duprey, J. / Degand, P. M. / Dobbelaere, D. et al. | 2000
- 753
-
Early onset of complete heart block in Pearson syndromeRahman, S. / Leonard, J. V. et al. | 2000
- 755
-
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletionPoggi, G. M. / Lamantea, E. / Ciani, F. / Donati, M. A. / Carrara, F. / Bartalena, L. / Garavaglia, B. / Zammarchi, E. et al. | 2000
- 757
-
Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnanciesManning, N. J. / Olpin, S. E. / Pollitt, R. J. / Downing, M. / Heeley, A. F. / Young, I. D. et al. | 2000
- 760
-
Hyperketonaemia in glycerol kinase deficiencySjarif, D. R. / Dorland, L. / Sperl, W. / de Koning, T. J. / Beemer, F. A. / Poll‐The, B. T. / Duran, M. et al. | 2000
- 767
-
Treating glucosphingolipid disorders by chemotherapy: Use of approved drugs and over‐the‐counter remediesRadin, N. S. et al. | 2000
- 778
-
Mutations in the low‐density‐lipoprotein receptor gene in German patients with familial hypercholesterolaemiaWeiss, N. / Binder, G. / Keller, C. et al. | 2000
- 791
-
Hepatocellular carcinoma despite long‐term survival in chronic tyrosinaemia IKim, S. Z. / Kupke, K. G. / Ierardi‐Curto, L. / Holme, E. / Greter, J. / Tanguay, R. M. / Poudrier, J. / D'Astous, M. / Lettre, F. / Hahn, S. H. et al. | 2000
- 805
-
Branched‐chain L‐amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantationBodner‐Leidecker, A. / Wendel, U. / Saudubray, J‐M. / Schadewaldt, P. et al. | 2000
- 819
-
Tyrosine hydroxylase deficiency unresponsive to L‐dopa treatment with unusual clinical and biochemical presentationDe Lonlay, P. / Nassogne, M. C. / van Gennip, A. H. / van Cruchten, A. C. / Billette de Villemeur, T. / Cretz, M. / Stoll, C. / Launay, J. M. / Steenberger‐Spante, G. C. V. / van den Heuvel, L. P. W. et al. | 2000
- 826
-
Trifunctional protein deficiency: Three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutationChakrapani, A. / Olpin, S. / Cleary, M. / Walter, J. H. / Wraith, J. E. / Besley, G. T. N. et al. | 2000
- 835
-
Plasma creatinine assessment in creatine deficiency: A diagnostic pitfallVerhoeven, N. M. / Guérand, W. S. / Struys, E. A. / Bouman, A. A. / van der Knaap, M. S. / Jakobs, C. et al. | 2000
- 841
-
Neuroleptic malignant syndrome in a patient with citrullinaemiaDursun, A. / Yilmaz, Y. / Özsari, M. / Kandemir, N. / Coşkun, T. et al. | 2000
- 843
-
Ornithine carbamoyltransferase deficiency presenting with chorea in a femaleWiltshire, E. J. / Poplawski, N. K. / Harbord, M. G. / Harrison, R. J. / Fletcher, J. M. et al. | 2000
- 845
-
Holocarboxylase synthetase deficiency: Urinary metabolites masked by gross ketosisCarpenter, K. H. / Wilcken, B. / Christodoulou, J. / Thorburn, D. R. et al. | 2000
- 847
-
Hyperprolinaemia in patients with deletion (22)(q11.2) syndromeGoodman, B. K. / Rutberg, J. / Lin, W. W. / Pulver, A. E. / Thomas, G. H. / Geraghty, M. T. et al. | 2000
- 849
-
Prolactin, a marker for cerebral dopamine deficiency in patients suffering from phenylketonuria (PKU)?Denecke, J. / Schlegel, W. / Koch, H. G. / Feldmann, R. / Harms, E. / Weglage, J. et al. | 2000
- 851
-
A novel mutation in the glucose‐6‐phosphatase gene in Korean twins with glycogen storage disease type IaGoto, M. / Taki, T. / Sugie, H. / Miki, Y. / Kato, H. / Hayashi, Y. et al. | 2000
- 853
-
A novel mitochondrial transfer RNA proline mutationSeneca, S. / Lissens, W. / Ceuterick‐De Groote, C. / Van Coster, R. / De Meirleir, L. et al. | 2000
- 855
-
James F. Crow, William F. Dove (Editors), Perspectives on GENETICS: Anecdotal, historical and critical commentaries – 1987–1998Scriver, Charles R. et al. | 2000
- 859
-
Author Index to Volume 23| 2000
- 863
-
Subject Index to Volume 23| 2000
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8TH INTERNATIONAL Congress OF INBORN ERRORS OF METABOLISM| 2000