Works matching IS 01418955 AND DT 2002 AND VI 25 AND IP 6

Results: 16

A novel mutation in the gene for canine acid β-galactosidase that causes GM1-gangliosidosis in Shiba dogs.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 525, doi. 10.1023/A:1021280007739

By:

Yamato, O.;
Endoh, D.;
Kobayashi, A.;
Masuoka, Y.;
Yonemura, M.;
Hatakeyama, A.;
Satoh, H.;
Tajima, M.;
Yamasaki, M.;
Maede, Y.

Publication type:

Article

Mutation screening for tyrosinaemia type I.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 523, doi. 10.1023/A:1021275923668

By:

Heath, S.;
Gray, R.;
McKiernan, P.;
Au, K.;
Walker, E.;
Green, A.

Publication type:

Article

Unknown peaks in GC-MS analyses of Guthrie cards blood samples might be the result of sample contamination by the black markings of the card.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 522, doi. 10.1023/A:1021223922760

By:

Brune, T.;
Lambrecht, A.;
Koch, H.

Publication type:

Article

Selective screening of amino acid disorders in the south-west of Iran, Shiraz.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 519, doi. 10.1023/A:1021219805921

By:

Golbahar, J.;
Karamizadeh, Z.;
Honardar, Z.

Publication type:

Article

Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twins.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 517, doi. 10.1023/A:1021215605013

By:

Aligianis, I.;
Farndon, P.;
Gray, R.;
Heath, S.;
Kilby, M.;
Gibson, K.;
Akaboshi, S.

Publication type:

Article

Ramipril treatment in a patient with glycogen storage disease I non-A.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 515, doi. 10.1023/A:1021263504104

By:

Giannì, M.;
Bonvissuto, M.;
Gallieni, M.;
Testolin, C.;
Racchi, E.;
Riva, E.

Publication type:

Article

Mutations in the sterol 27-hydoxylase gene ( CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 501, doi. 10.1023/A:1021211520034

By:

Clayton, P.;
Verrips, A.;
Sistermans, E.;
Mann, A.;
Mieli-Vergani, G.;
Wevers, R.

Publication type:

Article

Niemann–Pick disease type C in adults.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 491, doi. 10.1023/A:1021259403196

By:

Imrie, J.;
Vijayaraghaven, S.;
Whitehouse, C.;
Harris, S.;
Heptinstall, L.;
Church, H.;
Cooper, A.;
Besley, G.;
Wraith, J.

Publication type:

Article

Glutaric aciduria type III: A distinctive non-disease?

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 483, doi. 10.1023/A:1021207419125

By:

Knerr, I.;
Zschocke, J.;
Trautmann, U.;
Dorland, L.;
de Koning, T.;
Müller, P.;
Christensen, E.;
Trefz, F.;
Wündisch, G.;
Rascher, W.;
Hoffmann, G.

Publication type:

Article

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 477, doi. 10.1023/A:1021251202287

By:

Olpin, S.;
Pollitt, R.;
Mcmenamin, J.;
Manning, N.;
Besley, G.;
Ruiter, J.;
Wanders, R.

Publication type:

Article

CblE type of homocystinuria due to methionine synthase reductase deficiency: Clinical and molecular studies and prenatal diagnosis in two families.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 461, doi. 10.1023/A:1021299117308

By:

Zavaď'áková, P.;
Fowler, B.;
Zeman, J.;
Suormala, T.;
Pšistoupilová, K.;
Kožich, V.

Publication type:

Article

Introduction of a ketogenic diet in young infants.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 449, doi. 10.1023/A:1021238900470

By:

Klepper, J.;
Leiendecker, B.;
Bredahl, R.;
Athanassopoulos, S.;
Heinen, F.;
Gertsen, E.;
Flörcken, A.;
Metz, A.;
Voit, T.

Publication type:

Article

Hartnup disorder: Polymorphisms identified in the neutral amino acid transporter SLC1A5.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 437, doi. 10.1023/A:1021286714582

By:

Potter, S.;
Lu, A.;
Wilcken, B.;
Green, K.;
Rasko, J.

Publication type:

Article

Individual blood–brain barrier phenylalanine transport in siblings with classical phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 431, doi. 10.1023/A:1021234730512

By:

Weglage, J.;
Wiedermann, D.;
Denecke, J.;
Feldmann, R.;
Koch, H.-G.;
Ullrich, K.;
Möller, H.

Publication type:

Article

Short-term dietary interventions in children and adolescents with treated phenylketonuria: Effects on neuropsychological outcome of a well-controlled population.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 419, doi. 10.1023/A:1021205713674

By:

Huijbregts, S.;
De Sonneville, L.;
Licht, R.;
Van Spronsen, F.;
Sergeant, J.

Publication type:

Article

Erratum.

Published in:: Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 514, doi. 10.1023/A:1021263532425
Publication type:: Article