Works matching IS 01418955 AND DT 2000 AND VI 23 AND IP 5

Results: 20

Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 520, doi. 10.1023/A:1005667707355

By:

Randak, C.;
Röschinger, W.;
Rolinski, B.;
Hadorn, H.-B.;
Applegarth, D.;
Roscher, A.

Publication type:

Article

Instructions to Authors.

Published in:: Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 530, doi. 10.1023/A:1017288903701
Publication type:: Article

Erratum.

Published in:: 2000
Publication type:: Correction Notice

Vademecum Metabolicum. Manual of Metabolic Paediatrics. 1st English edition.J. Zschocke and G. F. Hoffmann.

Published in:

2000

By:

Pollitt, R.J.

Publication type:

Book Review

Identification of a 5′ splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 527, doi. 10.1023/A:1005632818722

By:

Uotani, S.;
Yamasaki, H.;
Takino, H.;
Kawasaki, E.;
Matsuo, H.;
Yamasaki, S.;
Jinno, Y.;
Niikawa, N.;
Ito, M.;
Sugie, H.;
Yamaguchi, Y.;
Eguchi, K.

Publication type:

Article

Methylenetetrahydrofolate reductase 677C>T mutation and epilepsy.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 525, doi. 10.1023/A:1005680701884

By:

Ono, H.;
Sakamoto, A.;
Mizoguchi, N.;
Sakura, N.

Publication type:

Article

Molecular basis of mild hyperphenylalaninaemia in Turkey.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 523, doi. 10.1023/A:1005628717813

By:

Yilmaz, E.;
Cali, F.;
Romano, V.;
Özalp, I.;
Coşkun, T.;
Tokatli, A.;
Kalkanoğlu, H.;
ÖzgüÇ, M.

Publication type:

Article

The HELLP syndrome associated with fetal medium-chain acyl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 518, doi. 10.1023/A:1005676600975

By:

Nelson, J.;
Lewis, B.;
Walters, B.

Publication type:

Article

Arginase deficiency presenting with cerebral oedema and failure to thrive.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 517, doi. 10.1023/A:1005624616905

By:

Harrington, J.;
Stiefel, M.;
Gianos, E.

Publication type:

Article

I-cell disease complicated by unusual dilatative cardiomyopathy.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 514, doi. 10.1023/A:1005672500066

By:

Müller, P.;
Reichenbach, H.;
Möckel, A.;
Bührdel, P.

Publication type:

Article

Very high plasma leucine concentrations without neurological symptoms in a patient with classical maple syrup urine disease.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 513, doi. 10.1023/A:1005620515996

By:

Skladal, D.;
Grissenauer, G.;
Konstantopoulou, V.;
Felber, S.;
Sperl, W.

Publication type:

Article

Reduction of large neutral amino acid concentrations in plasma and CSF of patients with maple syrup urine disease during crises.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 505, doi. 10.1023/A:1005668431926

By:

Wajner, M.;
Coelho, D.;
Barschak, A.;
Araújo, P.;
Pires, R.;
Lulhier, F.;
Vargas, C.

Publication type:

Article

Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 487, doi. 10.1023/A:1005664231017

By:

Weglage, J.;
Grenzebach, M.;
Pietsch, M.;
Feldmann, R.;
Linnenbank, R.;
Denecke, J.;
Koch, H.

Publication type:

Article

Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 497, doi. 10.1023/A:1005616315087

By:

Chambliss, K.;
Gray, R.;
Rylance, G.;
Pollitt, R.;
Gibson, K.

Publication type:

Article

A rapid screening procedure for the diagnosis of peroxisomal disorders: Quantification of very long-chain fatty acids, as dimethylaminoethyl esters, in plasma and blood spots, by electrospray tandem mass spectrometry.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 475, doi. 10.1023/A:1005612214179

By:

Johnson, D.

Publication type:

Article

Regulation of cholesterol biosynthetic pathway in patients with the Smith–Lemli–Opitz syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 464, doi. 10.1023/A:1005660130109

By:

Honda, M.;
Tint, G.;
Honda, A.;
Salen, G.;
Shefer, S.;
Batta, A.;
Matsuzaki, Y.;
Tanaka, N.

Publication type:

Article

Short-term effect of captopril on microalbuminuria in children with glycogen storage disease type Ia.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 459, doi. 10.1023/A:1005608113270

By:

Özen, H.;
Ciliv, G.;
Koçak, N.;
Saltik, İ.;
Yüce, A.;
Gürakan, F.

Publication type:

Article

Proceedings of the 4th International Workshop of the Adrenoleukodystrophy International Research Group (ALD-IRG), University of York, 3 September 1998.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 449, doi. 10.1023/A:1005604012362

By:

Alger, S.;
Green, A.;
Köhler, W.;
Sokolowski, P.;
Moser, H.

Publication type:

Article

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 441, doi. 10.1023/A:1005663728291

By:

Gregersen, N.;
Bross, P.;
Jørgensen, M.;
Corydon, T.;
Andresen, B.

Publication type:

Article

Bone marrow transplantation for the treatment of X-linked adrenoleukodystrophy.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 453, doi. 10.1023/A:1005656029200

By:

Suzuki, Y.;
Isogai, K.;
Teramoto, T.;
Tashita, H.;
Shimozawa, N.;
Nishimura, M.;
Asano, T.;
Oda, M.;
Kamei, A.;
Ishiguro, H.;
Kato, S.;
Ohashi, T.;
Kobayashi, H.;
Eto, Y.;
Kondo, N.

Publication type:

Article