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

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

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: 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