Works matching IS 01418955 AND DT 2000 AND VI 23 AND IP 2

Results: 13

Acute pancreatitis in homocystinuria.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 190, doi. 10.1023/A:1005682219894

By:

Makins, R.;
Gertner, D.;
Lee, P.

Publication type:

Article

Long-chain hydroxydicarboxylic aciduria, carnitine depletion and acetaminophen exposure.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 188, doi. 10.1023/A:1005630218986

By:

Nowaczyk, M.;
Whelan, D.;
Hill, R.;
Clarke, J.;
Pollitt, R.

Publication type:

Article

Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 185, doi. 10.1023/A:1005626102147

By:

Pomponio, R.;
Ozand, P.;
Al Essa, M.;
Wolf, B.

Publication type:

Article

The increased sensitivity of neurons with elevated glucocerebroside to neurotoxic agents can be reversed by imiglucerase.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 175, doi. 10.1023/A:1005622001239

By:

Pelled, D.;
Shogomori, H.;
Futerman, A.

Publication type:

Article

Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 162, doi. 10.1023/A:1005669900330

By:

Imtiaz, F.;
Worthington, V.;
Champion, M.;
Beesley, C.;
Charlwood, J.;
Clayton, P.;
Keir, G.;
Mian, N.;
Winchester, B.

Publication type:

Article

Multiple mtDNA deletions: Clinical and molecular correlations.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 155, doi. 10.1023/A:1005617916260

By:

Santorelli, F.;
De Joanna, G.;
Casali, C.;
Tessa, A.;
Siciliano, G.;
Amabile, G.;
Pierelli, F.;
Vilarinho, L.;
Santoro, L.

Publication type:

Article

Tripeptidyl-peptidase I deficiency in classical late-infantile neuronal ceroid lipofuscinosis brain tissue. Evidence for defective peptidase rather than proteinase activity.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 145, doi. 10.1023/A:1005665732189

By:

Warburton, M.;
Bernardini, F.

Publication type:

Article

Pulmonary hypertension associated with nonketotic hyperglycinaemia.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 137, doi. 10.1023/A:1005613715351

By:

Çataltepe, S.;
van Marter, L.;
Kozakewich, H.;
Wessel, D.;
Lee, P.;
Levy, H.

Publication type:

Article

Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 129, doi. 10.1023/A:1005661631281

By:

Praphanproj, V.;
Boyadjiev, S.;
Waber, L.;
Brusilow, S.;
Geraghty, M.

Publication type:

Article

Novel mutations cause biotinidase deficiency in Turkish children.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 120, doi. 10.1023/A:1005609614443

By:

Pomponio, R.;
Coskun, T.;
Demirkol, M.;
Tokatli, A.;
Ozalp, I.;
Hüner, G.;
Baykal, T.;
Wolf, B.

Publication type:

Article

Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22:1)-rich triglycerides.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 113, doi. 10.1023/A:1005657530372

By:

Barmaki Pour, R.;
Stöckler-Ipsiroglu, S.;
Hunneman, D.;
Gahr, M.;
Korenke, G.;
Pabst, W.;
Hanefeld, F.;
Peters, A.

Publication type:

Article

Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type III.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 95, doi. 10.1023/A:1005695229464

By:

Fukuda, T.;
Sugie, H.;
Ito, M.

Publication type:

Article

Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 107, doi. 10.1023/A:1005605513534

By:

Trioche, P.;
Francoual, J.;
Capel, L.;
Odièvre, M.;
Lindenbaum, A.;
Labrune, P.

Publication type:

Article