D‐2‐Hydroxyglutaric aciduria: Further clinical delineation (English)
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In:
Journal of Inherited Metabolic Disease
;
22
, 4
;
404-413
;
1999
- Article (Journal) / Electronic Resource
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Title:D‐2‐Hydroxyglutaric aciduria: Further clinical delineation
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Contributors:van der Knaap, M. S. ( author ) / Jakobs, C. ( author ) / Hoffmann, G. F. ( author ) / Duran, M. ( author ) / Muntau, A. C. ( author ) / Schweitzer, S. ( author ) / Kelley, R. I. ( author ) / Parrot‐Roulaud, F. ( author ) / Amiel, J. ( author ) / De Lonlay, P. ( author )
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Published in:Journal of Inherited Metabolic Disease ; 22, 4 ; 404-413
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Publisher:
- New search for: Kluwer Academic Publishers
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Publication date:1999-06-01
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Size:10 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 4
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.
- 335
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Preface: The 36th Annual Symposium of the SSIEM—York 1998| 1999
- 337
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Functional magnetic resonance imaging: Clinical applications and potentialMatthews, P. M. / Clare, S. / Adcock, J. et al. | 1999
- 353
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Neurochemistry and defects of biogenic amine neurotransmitter metabolismHyland, K. et al. | 1999
- 364
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Biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)Wevers, R. A. / De Rijk-van Andel, J. F. / Braeutigam, C. / Geurtz, B. / Van den Heuvel, L. P. W. J. / Steenbergen-Spanjers, G. C. H. / Smeitink, J. A. M. / Hoffmann, G. F. / Gabreeels, F. J. M. et al. | 1999
- 364
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A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)Wevers, R. A. / de Rijk‐van Andel, J. F. / Bräutigam, C. / Geurtz, B. / van den Heuvel, L. P. W. J. / Steenbergen‐Spanjers, G. C. H. / Smeitink, J. A. M. / Hoffmann, G. F. / Gabreëls, F. J. M. et al. | 1999
- 374
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Inborn errors of neurotransmitter receptorsSurtees, R. et al. | 1999
- 381
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Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapyHoffmann, G. F. / Zschocke, J. et al. | 1999
- 392
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Glutaric aciduria type I: Pathomechanisms of neurodegenerationUllrich, K. / Flott‐Rahmel, B. / Schluff, P. / Musshoff, U. / Das, A. / Lücke, T. / Steinfeld, R. / Christensen, E. / Jakobs, C. / Ludolph, A. et al. | 1999
- 404
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D‐2‐Hydroxyglutaric aciduria: Further clinical delineationvan der Knaap, M. S. / Jakobs, C. / Hoffmann, G. F. / Duran, M. / Muntau, A. C. / Schweitzer, S. / Kelley, R. I. / Parrot‐Roulaud, F. / Amiel, J. / De Lonlay, P. et al. | 1999
- 414
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4‐Aminobutyrate aminotransferase (GABA‐transaminase) deficiencyMedina‐Kauwe, L. K. / Tobin, A. J. / De Meirleir, L. / Jaeken, J. / Jakobs, C. / Nyhan, W. L. / Gibson, K. M. et al. | 1999
- 428
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Defects in activation and transport of fatty acidsBrivet, M. / Boutron, A. / Slama, A. / Costa, C. / Thuillier, L. / Demaugre, F. / Rabier, D. / Saudubray, J. M. / Bonnefont, J. P. et al. | 1999
- 442
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Disorders of mitochondrial fatty acyl‐CoA β‐oxidationWanders, R. J. A. / Vreken, P. / den Boer, M. E. J. / Wijburg, F. A. / Van Gennip, A. H. / IJlst, L. et al. | 1999
- 487
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Recognition and management of fatty acid oxidation defects: A series of 107 patientsSaudubray, J. M. / Martin, D. / De Lonlay, P. / Touati, G. / Poggi‐Travert, F. / Bonnet, D. / Jouvet, P. / Boutron, M. / Slama, A. / Vianey‐Saban, C. et al. | 1999
- 503
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Automated mutation analysisRavine, D. et al. | 1999
- 519
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Genomics, mutations and the Internet: The naming and use of partsScriver, C. R. / Nowacki, P. M. et al. | 1999
- 531
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The spectrum of mutations of the aspartoacylase gene in Canavan disease in non‐Jewish patientsElpeleg, O. N. / Shaag, A. et al. | 1999
- 535
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The neuronal ceroid‐lipofuscinoses (Batten disease): A new class of lysosomal storage diseasesBennett, M. J. / Hofmann, S. L. et al. | 1999
- 545
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Spinal muscular atrophyTalbot, K. et al. | 1999
- 555
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X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)Barth, P. G. / Wanders, R. J. A. / Vreken, P. / Janssen, E. A. M. / Lam, J. / Baas, F. et al. | 1999
- 568
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Tandem mass spectrometry — The potentialBartlett, K. / Pourfarzam, M. et al. | 1999
- 572
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Population newborn screening for inherited metabolic disease: Current UK perspectivesGreen, A. / Pollitt, R. J. et al. | 1999