Works matching IS 01418955 AND DT 2009 AND VI 32 AND IP 5

Results: 9

Retinal detachment causing unilateral blindness in a 12-year-old girl with gyrate atrophy.
Published in:
Journal of Inherited Metabolic Disease, 2009, v. 32, n. 5, p. 670, doi. 10.1007/s10545-009-1220-y
By:
- Barnett, C.;
- Lam, W.-C.;
- Schulze, A.
Publication type:
Article
Mental retardation and inborn errors of metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2009, v. 32, n. 5, p. 597, doi. 10.1007/s10545-009-0922-5
By:
- García-Cazorla, A.;
- Wolf, N.;
- Serrano, M.;
- Moog, U.;
- Pérez-Dueñas, B.;
- Póo, P.;
- Pineda, M.;
- Campistol, J.;
- Hoffmann, G.
Publication type:
Article
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.
Published in:
Journal of Inherited Metabolic Disease, 2009, v. 32, n. 5, p. 630, doi. 10.1007/s10545-009-1189-6
By:
- Hörster, F.;
- Garbade, S.;
- Zwickler, T.;
- Aydin, H.;
- Bodamer, O.;
- Burlina, A.;
- Das, A.;
- Klerk, J.;
- Dionisi-Vici, C.;
- Geb, S.;
- Gökcay, G.;
- Guffon, N.;
- Maier, E.;
- Morava, E.;
- Walter, J.;
- Schwahn, B.;
- Wijburg, F.;
- Lindner, M.;
- Grünewald, S.;
- Baumgartner, M.
Publication type:
Article
Epilepsy and inborn errors of metabolism in children.
Published in:
Journal of Inherited Metabolic Disease, 2009, v. 32, n. 5, p. 609, doi. 10.1007/s10545-009-1171-3
By:
- Wolf, N.;
- García-Cazorla, A.;
- Hoffmann, G.
Publication type:
Article
Management of neuronopathic Gaucher disease: Revised recommendations.
Published in:
Journal of Inherited Metabolic Disease, 2009, v. 32, n. 5, p. 660, doi. 10.1007/s10545-009-1164-2
By:
- Vellodi, A.;
- Tylki-Szymanska, A.;
- Davies, E.;
- Kolodny, E.;
- Bembi, B.;
- Collin-Histed, T.;
- Mengel, E.;
- Erikson, A.;
- Schiffmann, R.
Publication type:
Article
Glyceryl triacetate for Canavan disease: A low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model.
Published in:
Journal of Inherited Metabolic Disease, 2009, v. 32, n. 5, p. 640, doi. 10.1007/s10545-009-1155-3
By:
- Madhavarao, C.;
- Arun, P.;
- Anikster, Y.;
- Mog, S.;
- Staretz-Chacham, O.;
- Moffett, J.;
- Grunberg, N.;
- Gahl, W.;
- Namboodiri, A.
Publication type:
Article
Total oxidant-scavenging capacities of plasma from glycogen storage disease type Ia patients as measured by cyclic voltammetry, FRAP and luminescence techniques.
Published in:
Journal of Inherited Metabolic Disease, 2009, v. 32, n. 5, p. 651, doi. 10.1007/s10545-009-1242-5
By:
- Koren, E.;
- Lipkin, J.;
- Klar, A.;
- Hershkovitz, E.;
- Ginsburg, I.;
- Kohen, R.
Publication type:
Article
Inborn errors of metabolism and motor disturbances in children.
Published in:
Journal of Inherited Metabolic Disease, 2009, v. 32, n. 5, p. 618, doi. 10.1007/s10545-009-1194-9
By:
- García-Cazorla, A.;
- Wolf, N.;
- Serrano, M.;
- Pérez-Dueñas, B.;
- Pineda, M.;
- Campistol, J.;
- Fernández-Alvarez, E.;
- Colomer, J.;
- DiMauro, S.;
- Hoffmann, G.
Publication type:
Article
Neurometabolic disorders.
Published in:
Journal of Inherited Metabolic Disease, 2009, v. 32, n. 5, p. 595, doi. 10.1007/s10545-009-9958-9
By:
- Saudubray, Jean-Marie
Publication type:
Article