Works matching IS 01418955 AND DT 2005 AND VI 28 AND IP 2

Results: 16

Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: Early-onset necrotizing encephalopathy with lethal outcome.

Published in:

2005

By:

Baykal, T.;
Gokcay, G.;
Ince, Z.;
Dantas, M.;
Fowler, B.;
Baumgartner, M.;
Demir, F.;
Can, G.;
Demirkol, M.

Publication type:

Report

N-Carbamylglutamate protects patients with decompensated propionicaciduria from hyperammonaemia.

Published in:

2005

By:

Gebhardt, B.;
Dittrich, S.;
Parbel, S.;
Vlaho, S.;
Matsika, O.;
Bohles, H.

Publication type:

Report

A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 2, p. 169, doi. 10.1007/s10545-005-5261-6

By:

Verhoeven, N.;
Wallot, M.;
Huck, J.;
Dirsch, O.;
Ballauf, A.;
Neudorf, U.;
Salomons, G.;
Knaap, M.;
Voit, T.;
Jakobs, C.

Publication type:

Article

L-Carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: A pilot study.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 2, p. 141, doi. 10.1007/s10545-005-5262-5

By:

Lee, P.;
Harrison, E.;
Jones, M.;
Jones, S.;
Leonard, J.;
Chalmers, R.

Publication type:

Article

Ornithine transcarbamylase deficiency in pregnancy.

Published in:

2005

By:

Cordero, D.;
Baker, J.;
Dorinzi, D.;
Toffle, R.

Publication type:

Report

Selective antibody immune deficiency in a patient with Smith–Lemli–Opitz syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 2, p. 181, doi. 10.1007/s10545-005-5515-3

By:

Babovic-Vuksanovic, D.;
Jacobson, R.;
Lindor, N.;
Weiler, C.

Publication type:

Article

Galactosaemia: Early treatment with an elemental formula.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 2, p. 163, doi. 10.1007/s10545-005-5516-2

By:

Zlatunich, C.;
Packman, S.

Publication type:

Article

Hyperinsulinism in tyrosinaemia type I.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 2, p. 131, doi. 10.1007/s10545-005-5517-1

By:

Baumann, U.;
Preece, M.;
Green, A.;
Kelly, D.;
McKiernan, P.

Publication type:

Article

Cerebral ketone body metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 2, p. 109, doi. 10.1007/s10545-005-5518-0

By:

Morris, A.

Publication type:

Article

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 2, p. 203, doi. 10.1007/s10545-005-5671-5

By:

Pavlů-Pereira, H.;
Asfaw, B.;
Poupčtová, H.;
Ledvinová, J.;
Sikora, J.;
Vanier, M.;
Sandhoff, K.;
Zeman, J.;
Novotná, Z.;
Chudoba, D.;
Elleder, M.

Publication type:

Article

Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 2, p. 187, doi. 10.1007/s10545-005-5673-3

By:

Tomatsu, S.;
Okamura, K.;
Maeda, H.;
Taketani, T.;
Castrillon, S.;
Gutierrez, M.;
Nishioka, T.;
Fachel, A.;
Orii, K.;
Grubb, J.;
Cooper, A.;
Thornley, M.;
Wraith, E.;
Barrera, L.;
Laybauer, L.;
Giugliani, R.;
Schwartz, I.;
Frenking, G.;
Beck, M.;
Kircher, S.

Publication type:

Article

Increased NO production in lysinuric protein intolerance.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 2, p. 123, doi. 10.1007/s10545-005-5954-x

By:

Mannucci, L.;
Emma, F.;
Markert, M.;
Bachmann, C.;
Boulat, O.;
Carrozzo, R.;
Rizzoni, G.;
Dionisi-Vici, C.

Publication type:

Article

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 2, p. 137, doi. 10.1007/s10545-005-7060-5

By:

Santer, R.;
Gokçay, G.;
Demirkol, M.;
Gal, A.;
Lukacs, Z.

Publication type:

Article

Erratum.

Published in:: 2005
Publication type:: Correction Notice

Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency.

Published in:

2005

By:

Mrázová, L.;
Fukao, T.;
Hálovd, K.;
Gregová, E.;
Kohút, V.;
Přibyl, D.;
Chrastina, P.;
Kondo, N.;
Pospišilová, E.

Publication type:

Report

Hepatocellular carcinoma in glycogen storage disease type Ia: A case series.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 2, p. 153, doi. 10.1007/s10545-005-7500-2

By:

Franco, L.;
Krishnamurthy, V.;
Bali, D.;
Weinstein, D.;
Arn, P.;
Clary, B.;
Boney, A.;
Sullivan, J.;
Frush, D.;
Chen, Y.-T.;
Kishnani, P.

Publication type:

Article