Works matching IS 01418955 AND DT 1999 AND VI 22 AND IP 4

Results: 20

Population newborn screening for inherited metabolic disease: Current UK perspectives.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 572, doi. 10.1023/A:1005572710844
By:
- Green, A.;
- Pollitt, R.
Publication type:
Article
Tandem mass spectrometry — The potential.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 568, doi. 10.1023/A:1005520726774
By:
- Bartlett, K.;
- Pourfarzam, M.
Publication type:
Article
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 555, doi. 10.1023/A:1005568609936
By:
- Barth, P.;
- Wanders, R.;
- Vreken, P.;
- Janssen, E.;
- Lam, J.;
- Baas, F.
Publication type:
Article
Spinal muscular atrophy.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 545, doi. 10.1023/A:1005516625866
By:
- Talbot, K.
Publication type:
Article
The neuronal ceroid-lipofuscinoses (Batten disease): A new class of lysosomal storage diseases.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 535, doi. 10.1023/A:1005564509027
By:
- Bennett, M.;
- Hofmann, S.
Publication type:
Article
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 531, doi. 10.1023/A:1005512524957
By:
- Elpeleg, O.;
- Shaag, A.
Publication type:
Article
Genomics, mutations and the Internet: The naming and use of parts.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 519, doi. 10.1023/A:1005560408119
By:
- Scriver, C.;
- Nowacki, P.
Publication type:
Article
Automated mutation analysis.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 503, doi. 10.1023/A:1005508324048
By:
- Ravine, D.
Publication type:
Article
Recognition and management of fatty acid oxidation defects: A series of 107 patients.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 487, doi. 10.1023/A:1005556207210
By:
- Saudubray, J.;
- Martin, D.;
- De Lonlay, P.;
- Touati, G.;
- Poggi-Travert, F.;
- Bonnet, D.;
- Jouvet, P.;
- Boutron, M.;
- Slama, A.;
- Vianey-Saban, C.;
- Bonnefont, J.;
- Rabier, D.;
- Kamoun, P.;
- Brivet, M.
Publication type:
Article
Disorders of mitochondrial fatty acyl-CoA β-oxidation.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 442, doi. 10.1023/A:1005504223140
By:
- Wanders, R.;
- Vreken, P.;
- Boer, M.;
- Wijburg, F.;
- Van Gennip, A.;
- IJlst, L.
Publication type:
Article
Defects in activation and transport of fatty acids.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 428, doi. 10.1023/A:1005552106301
By:
- Brivet, M.;
- Boutron, A.;
- Slama, A.;
- Costa, C.;
- Thuillier, L.;
- Demaugre, F.;
- Rabier, D.;
- Saudubray, J.;
- Bonnefont, J.
Publication type:
Article
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 414, doi. 10.1023/A:1005500122231
By:
- Medina-Kauwe, L.;
- Tobin, A.;
- Meirleir, L.;
- Jaeken, J.;
- Jakobs, C.;
- Nyhan, W.;
- Gibson, K.
Publication type:
Article
D-2-Hydroxyglutaric aciduria: Further clinical delineation.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 404, doi. 10.1023/A:1005548005393
By:
- Knaap, M.;
- Jakobs, C.;
- Hoffmann, G.;
- Duran, M.;
- Muntau, A.;
- Schweitzer, S.;
- Kelley, R.;
- Parrot-Roulaud, F.;
- Amiel, J.;
- Lonlay, P.;
- Rabier, D.;
- Eeg-Olofsson, O.
Publication type:
Article
Glutaric aciduria type I: Pathomechanisms of neurodegeneration.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 392, doi. 10.1023/A:1005595921323
By:
- Ullrich, K.;
- Flott-Rahmel, B.;
- Schluff, P.;
- Musshoff, U.;
- Das, A.;
- Lücke, T.;
- Steinfeld, R.;
- Christensen, E.;
- Jakobs, C.;
- Ludolph, A.;
- Neu, A.;
- Röper, R.
Publication type:
Article
Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 381, doi. 10.1023/A:1005543904484
By:
- Hoffmann, G.;
- Zschocke, J.
Publication type:
Article
Inborn errors of neurotransmitter receptors.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 374, doi. 10.1023/A:1005591820414
By:
- Surtees, R.
Publication type:
Article
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 364, doi. 10.1023/A:1005539803576
By:
- Wevers, R.;
- Andel, J.;
- Bräutigam, C.;
- Geurtz, B.;
- Heuvel, L.;
- Steenbergen-Spanjers, G.;
- Smeitink, J.;
- Hoffmann, G.;
- Gabreëls, F.
Publication type:
Article
Neurochemistry and defects of biogenic amine neurotransmitter metabolism.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 353, doi. 10.1023/A:1005587719505
By:
- Hyland, K.
Publication type:
Article
Functional magnetic resonance imaging: Clinical applications and potential.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 337, doi. 10.1023/A:1005535102667
By:
- Matthews, P.;
- Clare, S.;
- Adcock, J.
Publication type:
Article
Preface: The 36th Annual Symposium of the SSIEM—York 1998.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 335, doi. 10.1023/A:1017279518597
Publication type:
Article