Works matching IS 01418955 AND DT 2009 AND VI 32 AND IP 6

Results: 12

Remarkable differences: the course of life of young adults with galactosaemia and PKU.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 706, doi. 10.1007/s10545-009-1253-2

By:

Bosch, A.;
Maurice-Stam, H.;
Wijburg, F.;
Grootenhuis, M.

Publication type:

Article

Psychological aspects of patients with Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 745, doi. 10.1007/s10545-009-1254-1

By:

Crosbie, T.;
Packman, Wendy;
Packman, S.

Publication type:

Article

Heterozygous familial hypercholesterolaemia in childhood: Cardiovascular risk prevention.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 699, doi. 10.1007/s10545-009-1165-1

By:

Graaf, A.;
Kastelein, J.;
Wiegman, A.

Publication type:

Article

Erratum to: Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

Published in:

2009

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:

Correction Notice

Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 720, doi. 10.1007/s10545-009-1197-6

By:

Sauer, S.;
Opp, S.;
Haarmann, A.;
Okun, J.;
Kölker, S.;
Morath, M.

Publication type:

Article

Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 739, doi. 10.1007/s10545-009-1290-x

By:

Keilmann, A.;
Hajioff, D.;
Ramaswami, U.

Publication type:

Article

Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 675, doi. 10.1007/s10545-009-1202-0

By:

Lang, T.

Publication type:

Article

Mitochondria and diabetes mellitus: untangling a conflictive relationship?

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 684, doi. 10.1007/s10545-009-1263-0

By:

Schiff, M.;
Loublier, S.;
Coulibaly, A.;
Bénit, P.;
Ogier de Baulny, H.;
Rustin, P.

Publication type:

Article

Hydroxocobalamin dose escalation improves metabolic control in cblC.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 728, doi. 10.1007/s10545-009-1257-y

By:

Carrillo-Carrasco, N.;
Sloan, J.;
Valle, D.;
Hamosh, A.;
Venditti, C.

Publication type:

Article

Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase ( l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 713, doi. 10.1007/s10545-009-1282-x

By:

Kranendijk, M.;
Salomons, G.;
Gibson, K.;
Aktuglu-Zeybek, C.;
Bekri, S.;
Christensen, E.;
Clarke, J.;
Hahn, A.;
Korman, S.;
Mejaski-Bosnjak, V.;
Superti-Furga, A.;
Vianey-Saban, C.;
Knaap, M.;
Jakobs, C.;
Struys, E.

Publication type:

Article

Clinical and biochemical studies in mucopolysaccharidosis type II carriers.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 732, doi. 10.1007/s10545-009-1275-9

By:

Schwartz, I.;
Pinto, L.;
Breda, G.;
Lima, L.;
Ribeiro, M.;
Mota, J.;
Acosta, A.;
Correia, P.;
Horovitz, D.;
Porciuncula, C.;
Lipinski-Figueiredo, E.;
Fett-Conte, A.;
Oliveira Sobrinho, R.;
Norato, D.;
Paula, A.;
Kim, C.;
Duarte, A.;
Boy, R.;
Leistner-Segal, S.;
Burin, M.

Publication type:

Article

Effort bruising disclosing Gaucher disease in a 55-year-old non-Jewish woman.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 758, doi. 10.1007/s10545-009-1217-6

By:

Machaczka, M.;
Klimkowska, M.;
Hägglund, H.

Publication type:

Article