Works matching IS 01418955 AND DT 2008 AND VI 31 AND IP 3

Results: 21

Newborn screening for methylmalonic acidurias—Optimization by statistical parameter combination.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 379, doi. 10.1007/s10545-008-0892-z

By:

Lindner, M.;
Ho, S.;
Kölker, S.;
Abdoh, G.;
Hoffmann, G.;
Burgard, P.

Publication type:

Article

Clinical characterization of cardiovascular abnormalities associated with feline mucopolysaccharidosis I and VI.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 424, doi. 10.1007/s10545-008-0821-1

By:

Sleeper, M.;
Kusiak, C.;
Shofer, F.;
O’Donnell, P.;
Bryan, C.;
Ponder, K.;
Haskins, M.

Publication type:

Article

Causes of and diagnostic approach to methylmalonic acidurias.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 350, doi. 10.1007/s10545-008-0839-4

By:

Fowler, B.;
Leonard, J.;
Baumgartner, M.

Publication type:

Article

Movement disorders and inborn errors of metabolism in adults: A diagnostic approach.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 308, doi. 10.1007/s10545-008-0854-5

By:

Sedel, F.;
Saudubray, J.-M.;
Roze, E.;
Agid, Y.;
Vidailhet, M.

Publication type:

Article

Methylmalonic aciduria: current faces of a “classical” organic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 293, doi. 10.1007/s10545-008-9977-y

By:

Barić, Ivo

Publication type:

Article

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 319, doi. 10.1007/s10545-008-0779-z

By:

Cox, T.;
Aerts, J.;
Belmatoug, N.;
Cappellini, M.;
Dahl, S.;
Goldblatt, J.;
Grabowski, G.;
Hollak, C.;
Hwu, P.;
Maas, M.;
Martins, A.;
Mistry, P.;
Pastores, G.;
Tylki-Szymanska, A.;
Yee, J.;
Weinreb, N.

Publication type:

Article

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 361, doi. 10.1007/s10545-008-0804-2

By:

Zwickler, T.;
Lindner, M.;
Aydin, H.;
Baumgartner, M.;
Bodamer, O.;
Burlina, A.;
Das, A.;
deKlerk, J.;
Gökcay, G.;
Grünewald, S.;
Guffon, N.;
Maier, E.;
Morava, E.;
Geb, S.;
Schwahn, B.;
Walter, J.;
Wendel, U.;
Wijburg, F.;
Müller, E.;
Kölker, S.

Publication type:

Article

Renal tubular function in children with tyrosinaemia type I treated with nitisinone.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 399, doi. 10.1007/s10545-008-0817-x

By:

Santra, S.;
Preece, M.;
Hulton, S.-A.;
McKiernan, P.

Publication type:

Article

Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle and bone deficit.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 418, doi. 10.1007/s10545-008-0830-0

By:

Mundy, H.;
Williams, J.;
Lee, P.;
Fewtrell, M.

Publication type:

Article

Glucose-6-phosphate dehydrogenase deficiency protects against coronary heart disease.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 412, doi. 10.1007/s10545-008-0704-5

By:

Meloni, L.;
Manca, M.;
Loddo, I.;
Cioglia, G.;
Cocco, P.;
Schwartz, A.;
Muntoni, S.;
Muntoni, Sa.

Publication type:

Article

The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a ‘ketotic hyperglycinaemia’.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 395, doi. 10.1007/s10545-008-0796-y

By:

Scholl-Bürgi, S.;
Korman, S.;
Applegarth, D.;
Karall, D.;
Lillquist, Y.;
Heinz-Erian, P.;
Davidson, A.;
Haberlandt, E.;
Sass, J.

Publication type:

Article

Leukoencephalopathies associated with inborn errors of metabolism in adults.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 295, doi. 10.1007/s10545-008-0778-0

By:

Sedel, F.;
Tourbah, A.;
Fontaine, B.;
Lubetzki, C.;
Baumann, N.;
Saudubray, J.-M.;
Lyon-Caen, O.

Publication type:

Article

Genetic variants of transferrin in cystic fibrosis.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 457, doi. 10.1007/s10545-008-0733-0

By:

Marklová, E.;
Albahri, Z.;
Vaníček, H.;
Dědek, P.;
Vališ, M.;
Kopáčová, M.;
Vávrová, V.

Publication type:

Article

Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 450, doi. 10.1007/s10545-008-0822-0

By:

Morava, É.;
Wosik, H.;
Kárteszi, J.;
Guillard, M.;
Adamowicz, M.;
Sykut-Cegielska, J.;
Hadzsiev, K.;
Wevers, R.;
Lefeber, D.

Publication type:

Article

Neonatal screening in Europe; the situation in 2004.

Published in:

2008

By:

Loeber, J.

Publication type:

Correction Notice

Looking beyond the basal ganglia: The spectrum of MRI changes in methylmalonic acidaemia.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 368, doi. 10.1007/s10545-008-0801-5

By:

Harting, I.;
Seitz, A.;
Geb, S.;
Zwickler, T.;
Porto, L.;
Lindner, M.;
Kölker, S.;
Hörster, F.

Publication type:

Article

Baicalein 5,6,7-trimethyl ether activates peroxisomal but not mitochondrial fatty acid β-oxidation.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 442, doi. 10.1007/s10545-008-0857-2

By:

Morita, M.;
Kanai, M.;
Mizuno, S.;
Iwashima, M.;
Hayashi, T.;
Shimozawa, N.;
Suzuki, Y.;
Imanaka, T.

Publication type:

Article

Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 403, doi. 10.1007/s10545-008-0645-z

By:

Li, D.;
Karp, N.;
Wu, Q.;
Wang, X-L.;
Melnyk, S.;
James, S.;
Rozen, R.

Publication type:

Article

Reduced carbohydrate intake in citrin-deficient subjects.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 386, doi. 10.1007/s10545-008-0752-x

By:

Saheki, T.;
Kobayashi, K.;
Terashi, M.;
Ohura, T.;
Yanagawa, Y.;
Okano, Y.;
Hattori, T.;
Fujimoto, H.;
Mutoh, K.;
Kizaki, Z.;
Inui, A.

Publication type:

Article

‘Non-neuronopathic’ Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 337, doi. 10.1007/s10545-008-0832-y

By:

Biegstraaten, M.;
Schaik, I.;
Aerts, J.;
Hollak, C.

Publication type:

Article

Twenty-four-month α-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters.

Published in:

Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 432, doi. 10.1007/s10545-008-0848-3

By:

Koskenvuo, J.;
Hartiala, J.;
Nuutila, P.;
Kalliokoski, R.;
Viikari, J.;
Engblom, E.;
Penttinen, M.;
Knuuti, J.;
Mononen, I.;
Kantola, I.

Publication type:

Article