Works matching IS 01418955 AND DT 2005 AND VI 28 AND IP 4

Results: 21

Frontal lobe-dependent functions in treated phenylketonuria: Blood phenylalanine concentrations and long-term deficits in adolescents young adults.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 445, doi. 10.1007/s10545-005-0445-7

By:

Feldmann, R.;
Denecke, J.;
Grenzebach, M.;
Weglage, J.

Publication type:

Article

Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 457, doi. 10.1007/s10545-005-0457-3

By:

Huner, G.;
Baykal, T.;
Demir, F.;
Demirkol, M.

Publication type:

Article

Elevated plasma citrulline and arginine due to consumption of Citrullus vulgaris (watermelon).

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 467, doi. 10.1007/s10545-005-0467-1

By:

Mandel, H.;
Levy, N.;
Izkovitch, S.;
Korman, S.

Publication type:

Article

A survey of Japanese patients with Menkes disease from 1990 to 2003: Incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 473, doi. 10.1007/s10545-005-0473-3

By:

Gu, Y.;
Kodama, H.;
Shiga, K.;
Nakata, S.;
Yanagawa, Y.;
Ozawa, H.

Publication type:

Article

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 479, doi. 10.1007/s10545-005-0479-x

By:

Horváth, R.;
Freisinger, P.;
Rubio, R.;
Merl, T.;
Bax, R.;
Mayr, J.;
Shawan;
Müller-Höcker, J.;
Pongratz, D.;
Moller, L.;
Horn, N.;
Jaksch, M.

Publication type:

Article

Preparation of 5-amino-4-imidazole- N-succinocarboxamide ribotide, 5-amino-4-imidazole- N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 493, doi. 10.1007/s10545-005-0493-z

By:

Zikánová, M.;
Krijt, J.;
Hartmannová, H.;
Kmoch, S.

Publication type:

Article

Inhibition of energy metabolism by 2-methylacetoacetate and 2-methyl-3-hydroxybutyrate in cerebral cortex of developing rats.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 501, doi. 10.1007/s10545-005-0501-3

By:

Rosa, R.;
Schuck, P.;
Assis, D.;
Latini, A.;
Dalcin, K.;
Ribeiro, C.;
Ferreira, G.;
Maria, R.;
Leipnitz, G.;
Perry, M.;
Filho, C.;
Wyse, A.;
Wannmacher, C.;
Wajner, M.

Publication type:

Article

Management of methylmalonic acidaemia by combined liver–kidney transplantation.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 517, doi. 10.1007/s10545-005-0517-8

By:

Nagarajan, S.;
Enns, G.;
Millan, M.;
Winter, S.;
Sarwal, M.

Publication type:

Article

OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 525, doi. 10.1007/s10545-005-0525-8

By:

Neas, K.;
Bennetts, B.;
Carpenter, K.;
White, R.;
Kirk, E.;
Wilson, M.;
Kelley, R.;
Baric, I.;
Christodoulou, J.

Publication type:

Article

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 533, doi. 10.1007/s10545-005-0533-8

By:

Olpin, S.;
Clark, S.;
Andresen, B.;
Bischoff, C.;
Olsen, R.;
Gregersen, N.;
Chakrapani, A.;
Downing, M.;
Manning, N.;
Sharrard, M.;
Bonham, J.;
Muntoni, F.;
Turnbull, D.;
Pourfarzam, M.

Publication type:

Article

Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 545, doi. 10.1007/s10545-005-0545-4

By:

Browning, M.;
Larson, C.;
Strauss, A.;
Marsden, D.

Publication type:

Article

Newborns with C<sub>8</sub>-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 551, doi. 10.1007/s10545-005-0551-6

By:

Blois, B.;
Riddell, C.;
Dooley, K.;
Dyack, S.

Publication type:

Article

The 625G>A SCAD gene variant is common but not associated with increased C<sub>4</sub>-carnitine in newborn blood spots.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 557, doi. 10.1007/s10545-005-0557-0

By:

Maldegem, B.;
Waterham, H.;
Duran, M.;
Vlies, M.;
Woerden, C.;
Bobu, L.;
Wanders, R.;
Wijburg, F.

Publication type:

Article

Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 563, doi. 10.1007/s10545-005-0563-2

By:

Kalliokoski, R.;
Kalliokoski, K.;
Sundell, J.;
Engblom, E.;
Penttinen, M.;
Kantola, I.;
Raitakari, O.;
Knuuti, J.;
Nuutila, P.

Publication type:

Article

Enzyme replacement therapy in Japanese Fabry disease patients: The results of a phase 2 bridging study.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 575, doi. 10.1007/s10545-005-0575-y

By:

Eto, Y.;
Ohashi, T.;
Utsunomiya, Y.;
Fujiwara, M.;
Mizuno, A.;
Inui, K.;
Sakai, N.;
Kitagawa, T.;
Suzuki, Y.;
Mochizuki, S.;
Kawakami, M.;
Hosoya, T.;
Owada, M.;
Sakuraba, H.;
Saito, H.

Publication type:

Article

Evaluation of three biochemical markers in the monitoring of Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 585, doi. 10.1007/s10545-005-0585-9

By:

Vellodi, A.;
Foo, Y.;
Cole, T.

Publication type:

Article

Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 593, doi. 10.1007/s10545-005-0593-9

By:

Maldergem, L.;
Moser, A.;
Vincent, M.-F.;
Roland, D.;
Reding, R.;
Otte, J.-B.;
Wanders, R.;
Sokal, E.

Publication type:

Article

Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 601, doi. 10.1007/s10545-005-0601-0

By:

Bekri, S.;
Armana, G.;
Ricaud, D.;
Osenda, M.;
Maire, I.;
Obberghen, E.;
Froissart, R.

Publication type:

Article

Clinical response to sildenafil in pulmonary hypertension associated with Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 603, doi. 10.1007/s10545-005-0603-y

By:

Fernandes, C.;
Jardim, C.;
Carvalho, L.;
Farias, A.;
Filho, M.;
Souza, R.

Publication type:

Article

Absolute configuration of N-acetylaspartate in urine from patients with Canavan disease.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 607, doi. 10.1007/s10545-005-0607-7

By:

Bal, D.;
Gryff-Keller, A.;
Gradowska, W.

Publication type:

Article

Instructions to Authors.

Published in:: Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 611, doi. 10.1007/s10545-005-0611-y
Publication type:: Article