Works matching IS 01418955 AND DT 2000 AND VI 23 AND IP 1

Results: 15

Pyridoxine-responsive nephrocalcinosis and glycolic aciduria in two siblings without hyperoxaluria and with normal alanine:glyoxalate aminotransferase activity.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 91, doi. 10.1023/A:1005615417126

By:

Kist-van Holthe, J.;
Onkenhout, W.;
van der Heijden, A.

Publication type:

Article

Increased urine heparan and chondroitin sulphate excretion in patients with osteopetrosis.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 88, doi. 10.1023/A:1005663200288

By:

Steiner, R.;
Whyte, M.;
Chang, E.;
Hanks, J.;
Mattes, C.;
Senephansiri, H.;
Gibson, K.

Publication type:

Article

Protein, glucose and energy metabolism in Gaucher disease type I.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 86, doi. 10.1023/A:1005611216218

By:

Bodamer, O.;
Vellodi, A.

Publication type:

Article

The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 85, doi. 10.1023/A:1005659132147

By:

Ierardi-Curto, L.;
Kaplan, P.;
Saitta, S.;
Mazur, A.;
Berry, G.

Publication type:

Article

Neurological deterioration in adult phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 83, doi. 10.1023/A:1005607115309

By:

Weglage, J.;
Oberwittler, C.;
Marquardt, T.;
Schellscheidt, J.;
Teeffelen-Heithoff, A.v.;
Koch, G.;
Gerding, H.

Publication type:

Article

The natural course of Gaucher disease in The Netherlands: Implications for monitoring of disease manifestations.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 77, doi. 10.1023/A:1005655031239

By:

Maaswinkel-Mooij, P.;
Hollak, C.;
Van Eysden-Plaisier, M.;
Prins, M.;
Aerts, H.;
Pöll, R.

Publication type:

Article

A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 63, doi. 10.1023/A:1005603014401

By:

Wrobe, D.;
Henseler, M.;
Huettler, S.;
Pascual Pascual, S.;
Chabas, A.;
Sandhoff, K.

Publication type:

Article

Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann–Pick C mice.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 54, doi. 10.1023/A:1005650930330

By:

Erickson, R.;
Garver, W.;
Camargo, F.;
Hossian, G.;
Heidenreich, R.

Publication type:

Article

Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 45, doi. 10.1023/A:1005646813492

By:

Touati, G.;
Rusthoven, E.;
Depondt, E.;
Dorche, C.;
Duran, M.;
Heron, B.;
Rabier, D.;
Russo, M.;
Saudubray, J.

Publication type:

Article

Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 27, doi. 10.1023/A:1005694712583

By:

Shen, J.;
Matern, D.;
Millington, D.;
Hillman, S.;
Feezor, M.;
Bennett, M.;
Qumsiyeh, M.;
Kahler, S.;
Chen, Y.-T.;
Van Hove, J.

Publication type:

Article

Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 22, doi. 10.1023/A:1005642728513

By:

Neuberger, J.;
Schweitzer, S.;
Rolland, M.-O.;
Burghard, R.

Publication type:

Article

Treatment of late-onset nonketotic hyperglycinaemia: Effectiveness of imipramine and benzoate.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 15, doi. 10.1023/A:1005690611675

By:

Wiltshire, E.;
Poplawski, N.;
Harrison, J.;
Fletcher, J.

Publication type:

Article

Brain phenylalanine concentration in the management of adults with phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 7, doi. 10.1023/A:1005638627604

By:

Moats, R.;
Koch, R.;
Moseley, K.;
Guldberg, P.;
Guttler, F.;
Boles, R.;
Nelson, M.

Publication type:

Article

Psychiatric symptoms of inherited metabolic disease.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 2, doi. 10.1023/A:1005685010766

By:

Estrov, Y.;
Scaglia, F.;
Bodamer, O.

Publication type:

Article

Editorial changes.

Published in:: Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 1, doi. 10.1023/A:1017215126696
Publication type:: Article