Works matching IS 01418955 AND DT 1998 AND VI 21 AND IP 1

Results: 21

Functions and Biogenesis of Peroxisomes in Relation to Human Disease.

Published in:

1998

By:

Addison, G.M.

Publication type:

Book Review

Robert Guthrie - the PKU Story. Crusade Against Mental Retardation. Jean Holt Koch.

Published in:

1998

By:

Kennedy, Bob

Publication type:

Book Review

Preface.

Published in:: Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 1, doi. 10.1023/A:1017118409843
Publication type:: Article

Increased urine methylmalonic acid excretion in infants with apnoeas.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 86, doi. 10.1023/A:1005383919335

By:

Artuch, R.;
Calvo, M.;
Ribes, A.;
Camarasa, F.;
Vilaseca, M.

Publication type:

Article

Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 84, doi. 10.1023/A:1005331902497

By:

Sakura, N.;
Ono, H.;
Nomura, S.;
Ueda, H.;
Fujita, N.

Publication type:

Article

Increase in leukocyte alkaline phosphatase in a patient with hypophosphatasia during pregnancy.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 83, doi. 10.1023/A:1005379818426

By:

Iqbal, S.

Publication type:

Article

In vivo NMR spectroscopy in patients with phenylketonuria: Clinical significance of interindividual differences in brain phenylalanine concentrations.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 81, doi. 10.1023/A:1005327801588

By:

Weglage, J.;
Möller, H.;
Wiedermann, D.;
Cipcic-Schmidt, S.;
Zschocke, J.;
Ullrich, K.

Publication type:

Article

Increased resting energy expenditure in glycogen storage disease type Ia.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 80, doi. 10.1023/A:1005375717518

By:

Feillet, F.;
Bodamer, O.;
Leonard, J.

Publication type:

Article

Phosphomannomutase deficiency and normal pubertal development.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 78, doi. 10.1023/A:1005323700680

By:

Artigas, J.;
Cardo, E.;
Pineda, M.;
Nosas, R.;
Jaeken, J.

Publication type:

Article

Fatal neonatal malonic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 76, doi. 10.1023/A:1005371616609

By:

Buyukgebiz, B.;
Jakobs, C.;
Scholte, H.R.;
Huijmans, J.;
Kleijer, W.

Publication type:

Article

Neurological outcome of a patient with Gaucher disease type III treated by enzymatic replacement therapy.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 74, doi. 10.1023/A:1005319632539

By:

Dobbelaere, D.;
Sukno, S.;
Defoort-Dhellemmes, S.;
Lamblin, M.-D.;
Largillière, C.

Publication type:

Article

Complex I deficiency in association with structural abnormalities of the diaphragm and brain.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 72, doi. 10.1023/A:1005367515701

By:

Ellaway, C.;
North, K.;
Arbuckle, S.;
Christodoulou, J.

Publication type:

Article

Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 71, doi. 10.1023/A:1005315531630

By:

Staudt, M.;
Wermuth, B.;
Freisinger, P.;
Hässler, A.;
Pontz, B.

Publication type:

Article

Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 60, doi. 10.1023/A:1005363414792

By:

Isogai, K.;
Sukegawa, K.;
Tomatsu, S.;
Fukao, T.;
Song, X-Q.;
Yamada, Y.;
Fukuda, S.;
Orii, T.;
Kondo, N.

Publication type:

Article

Oligosaccharide excretion in adult Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 49, doi. 10.1023/A:1005311430722

By:

de Jong, J.;
Aerts, J.;
van Weely, S.;
Hollak, C.;
van Pelt, J.;
van Woerkom, L.;
Liebrand-van Sambeek, M.;
Wevers, R.

Publication type:

Article

Neonatal neurological assessment of offspring in maternal phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 39, doi. 10.1023/A:1005359313883

By:

Waisbren, S.E.;
Chang, P.;
Levy, H.;
Shifrin, H.;
Allred, E.;
Azen, C.;
de la Cruz, F.;
Hanley, W.;
Koch, R.;
Matalon, R.;
Rouse, B.

Publication type:

Article

Neuropsychological outcome of experimental manipulation of phenylalanine intake in treated phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 29, doi. 10.1023/A:1005307229813

By:

Griffiths, P.;
Ward, N.;
Harvie, A.;
Cockburn, F.

Publication type:

Article

Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase : 3-hydroxyacyl-CoA dehydrogenase cDNA.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 23, doi. 10.1023/A:1005355112975

By:

Fukuda, S.;
Suzuki, Y.;
Shimozawa, N.;
Zhang, Z.;
Orii, T.;
Aoyama, T.;
Hashimoto, T.;
Kondo, N.

Publication type:

Article

The association of protein-losing enteropathy with cobalamin C defect.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 17, doi. 10.1023/A:1005303128904

By:

Ellaway, C.;
Christodoulou, J.;
Kamath, R.;
Carpenter, K.;
Wilcken, B.

Publication type:

Article

Pyruvate dehydrogenase complex deficiency and absence of subunit X.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 9, doi. 10.1023/A:1005351012066

By:

De Meirleir, L.;
Lissens, W.;
Benelli, C.;
Marsac, C.;
De Klerk, J.;
Scholte, J.;
Van Diggelen, O.;
Kleijer, W.;
Seneca, S.;
Liebaers, I.

Publication type:

Article

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 2, doi. 10.1023/A:1005397227996

By:

Dionisi-Vici, C.;
Seneca, S.;
Zeviani, M.;
Fariello, G.;
Rimoldi, M.;
Bertini, E.;
De Meirleir, L.

Publication type:

Article