Works matching IS 01418955 AND DT 2011 AND VI 34 AND IP 1

Results: 29

Dealing with methionine/homocysteine sulfur: cysteine metabolism to taurine and inorganic sulfur.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 17, doi. 10.1007/s10545-009-9006-9

By:

Stipanuk, Martha;
Ueki, Iori

Publication type:

Article

Cobalamin C defect: natural history, pathophysiology, and treatment.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 127, doi. 10.1007/s10545-010-9161-z

By:

Martinelli, Diego;
Deodato, Federica;
Dionisi-Vici, Carlo

Publication type:

Article

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 33, doi. 10.1007/s10545-010-9146-y

By:

Magner, Martin;
Krupková, Lucie;
Honzík, Tomáš;
Zeman, Jiří;
Hyánek, Josef;
Kožich, Viktor

Publication type:

Article

The homocysteine controversy.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 93, doi. 10.1007/s10545-010-9151-1

By:

Smulders, Yvo;
Blom, Henk

Publication type:

Article

Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 217, doi. 10.1007/s10545-010-9231-2

By:

Tollånes, Mette;
Aarsand, Aasne;
Sandberg, Sverre

Publication type:

Article

Homocysteine and vascular disease: review of published results of the homocysteine-lowering trials.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 83, doi. 10.1007/s10545-010-9235-y

By:

Clarke, Robert;
Halsey, Jim;
Bennett, Derrick;
Lewington, Sarah

Publication type:

Article

High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 165, doi. 10.1007/s10545-010-9253-9

By:

Hoedt, Amber;
Sonneville, Leo;
Francois, Baudouin;
Horst, Nienke;
Janssen, Mirian;
Rubio-Gozalbo, M.;
Wijburg, Frits;
Hollak, Carla;
Bosch, Annet

Publication type:

Article

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 225, doi. 10.1007/s10545-010-9237-9

By:

Hasanoglu, Alev;
Balwani, Manisha;
Kasapkara, Çiğdem;
Ezgü, Fatih;
Okur, İlyas;
Tümer, Leyla;
Çakmak, Alpay;
Nazarenko, Irina;
Yu, Chunli;
Clavero, Sonia;
Bishop, David;
Desnick, Robert

Publication type:

Article

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 159, doi. 10.1007/s10545-010-9242-z

By:

Bosch, Annet;
Abeling, Nico;
IJlst, Lodewijk;
Knoester, Hennie;
Pol, W.;
Stroomer, Alida;
Wanders, Ronald;
Visser, Gepke;
Wijburg, Frits;
Duran, Marinus;
Waterham, Hans

Publication type:

Article

Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 181, doi. 10.1007/s10545-010-9249-5

By:

Tabatabaie, L.;
Klomp, L.;
Rubio-Gozalbo, M.;
Spaapen, L.;
Haagen, A.;
Dorland, L.;
Koning, T.

Publication type:

Article

Gaucher disease with foamy transformed macrophages and erythrophagocytic activity.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 233, doi. 10.1007/s10545-010-9241-0

By:

Machaczka, Maciej;
Klimkowska, Monika;
Regenthal, Sofie;
Hägglund, Hans

Publication type:

Article

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 185, doi. 10.1007/s10545-010-9244-x

By:

Sykut-Cegielska, Jolanta;
Gradowska, Wanda;
Piekutowska-Abramczuk, Dorota;
Andresen, Brage;
Olsen, Rikke;
Ołtarzewski, Mariusz;
Pronicki, Maciej;
Pajdowska, Magdalena;
Bogdańska, Anna;
Jabłońska, Ewa;
Radomyska, Barbara;
Kuśmierska, Katarzyna;
Krajewska-Walasek, Małgorzata;
Gregersen, Niels;
Pronicka, Ewa

Publication type:

Article

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 197, doi. 10.1007/s10545-010-9250-z

By:

Schara, Ulrike;
Kleist-Retzow, Jürgen-Christoph;
Lainka, Elke;
Gerner, Patrick;
Pyle, Angela;
Smith, Paul;
Lochmüller, Hanns;
Czermin, Birgit;
Abicht, Angela;
Holinski-Feder, Elke;
Horvath, Rita

Publication type:

Article

Homocysteine is transported by the microvillous plasma membrane of human placenta.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 57, doi. 10.1007/s10545-010-9141-3

By:

Tsitsiou, Eleni;
Sibley, Colin;
D'Souza, Stephen;
Catanescu, Otilia;
Jacobsen, Donald;
Glazier, Jocelyn

Publication type:

Article

Mandatory fortification of the food supply with cobalamin: an idea whose time has not yet come.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 67, doi. 10.1007/s10545-010-9150-2

By:

Carmel, Ralph

Publication type:

Article

Letter concerning 'Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha', by Tanaka et al.

Published in:

2011

By:

Linthorst, Gabor;
Aerts, Johannes

Publication type:

Letter

Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 203, doi. 10.1007/s10545-010-9215-2

By:

Schulze-Frenking, G.;
Jones, Simon;
Roberts, J.;
Beck, M.;
Wraith, J.

Publication type:

Article

Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 173, doi. 10.1007/s10545-010-9223-2

By:

Al-Dirbashi, Osama;
Kölker, Stefan;
Ng, Dione;
Fisher, Lawrence;
Rupar, Tony;
Lepage, Nathalie;
Rashed, Mohamed;
Santa, Tomofumi;
Goodman, Stephen;
Geraghty, Michael;
Zschocke, Johannes;
Christensen, Ernst;
Hoffmann, Georg;
Chakraborty, Pranesh

Publication type:

Article

Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 39, doi. 10.1007/s10545-010-9087-5

By:

Kopecká, Jana;
Krijt, Jakub;
Raková, Kateřina;
Kožich, Viktor

Publication type:

Article

Gaucher disease in sheep.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 209, doi. 10.1007/s10545-010-9230-3

By:

Karageorgos, Litsa;
Lancaster, Malcolm;
Nimmo, Judith;
Hopwood, John

Publication type:

Article

Choline and betaine in health and disease.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 3, doi. 10.1007/s10545-010-9088-4

By:

Ueland, Per

Publication type:

Article

LMBRD1: the gene for the cblF defect of vitamin B metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 121, doi. 10.1007/s10545-010-9083-9

By:

Rutsch, Frank;
Gailus, Susann;
Suormala, Terttu;
Fowler, Brian

Publication type:

Article

Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 49, doi. 10.1007/s10545-010-9178-3

By:

Krijt, Jakub;
Kopecká, Jana;
Hnízda, Aleš;
Moat, Stuart;
Kluijtmans, Leo;
Mayne, Philip;
Kožich, Viktor

Publication type:

Article

Isolated remethylation disorders: do our treatments benefit patients?

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 137, doi. 10.1007/s10545-010-9120-8

By:

Schiff, Manuel;
Benoist, Jean-François;
Tilea, Bogdana;
Royer, Nicolas;
Giraudier, Stéphane;
Ogier de Baulny, Hélène

Publication type:

Article

Foreword to special issue on homocysteine disorders.

Published in:

2011

By:

Fowler, Brian;
Blom, Henk;
Kožich, Viktor

Publication type:

Editorial

Cobalamin status in children.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 111, doi. 10.1007/s10545-010-9119-1

By:

Bjørke-Monsen, Anne-Lise;
Ueland, Per

Publication type:

Article

Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 75, doi. 10.1007/s10545-010-9177-4

By:

Blom, Henk;
Smulders, Yvo

Publication type:

Article

Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 147, doi. 10.1007/s10545-010-9127-1

By:

Lawrance, Andrea;
Racine, Julie;
Deng, Liyuan;
Wang, Xiaoling;
Lachapelle, Pierre;
Rozen, Rima

Publication type:

Article

Folate and cancer: how DNA damage, repair and methylation impact on colon carcinogenesis.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 101, doi. 10.1007/s10545-010-9128-0

By:

Duthie, Susan

Publication type:

Article