• Issue

    Journal of Inherited Metabolic Disease: Volume 34, Issue 1

    1-238
    February 2011
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Editorial

Open Access

Foreword to special issue on homocysteine disorders

Brian Fowler,  Henk J. Blom,  Viktor Kožich, 
  • Pages: 1-2
  • First Published: 11 January 2011

Homocysteine and B-Vitamin Metabolism

Choline and betaine in health and disease

Per Magne Ueland, 
  • Pages: 3-15
  • First Published: 06 May 2010

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

Martha H. Stipanuk,  Iori Ueki, 
  • Pages: 17-32
  • First Published: 17 February 2010
Open Access

Vascular presentation of cystathionine beta-synthase deficiency in adulthood

Martin Magner,  Lucie Krupková,  Tomáš Honzík,  Jiří Zeman,  Josef Hyánek,  Viktor Kožich, 
  • Pages: 33-37
  • First Published: 22 June 2010
Open Access

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

Jana Kopecká,  Jakub Krijt,  Kateřina Raková,  Viktor Kožich, 
  • Pages: 39-48
  • First Published: 20 May 2010
Open Access

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

Jakub Krijt,  Jana Kopecká,  Aleš Hnízda,  Stuart Moat,  Leo A. J. Kluijtmans,  Philip Mayne,  Viktor Kožich, 
  • Pages: 49-55
  • First Published: 07 September 2010

Homocysteine is transported by the microvillous plasma membrane of human placenta

Eleni Tsitsiou,  Colin P. Sibley,  Stephen W. D'Souza,  Otilia Catanescu,  Donald W. Jacobsen,  Jocelyn D. Glazier, 
  • Pages: 57-65
  • First Published: 22 June 2010

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

Ralph Carmel, 
  • Pages: 67-73
  • First Published: 25 June 2010
Open Access

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

Henk J. Blom,  Yvo Smulders, 
  • Pages: 75-81
  • First Published: 04 September 2010

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

Robert Clarke,  Jim Halsey,  Derrick Bennett,  Sarah Lewington, 
  • Pages: 83-91
  • First Published: 11 November 2010
Open Access

The homocysteine controversy

Yvo M. Smulders,  Henk J. Blom, 
  • Pages: 93-99
  • First Published: 22 June 2010

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

Susan J. Duthie, 
  • Pages: 101-109
  • First Published: 11 June 2010

Cobalamin status in children

Anne-Lise Bjørke-Monsen,  Per Magne Ueland, 
  • Pages: 111-119
  • First Published: 27 May 2010

LMBRD1: the gene for the cblF defect of vitamin B12 metabolism

Frank Rutsch,  Susann Gailus,  Terttu Suormala,  Brian Fowler, 
  • Pages: 121-126
  • First Published: 06 May 2010

Cobalamin C defect: natural history, pathophysiology, and treatment

Diego Martinelli,  Federica Deodato,  Carlo Dionisi-Vici, 
  • Pages: 127-135
  • First Published: 15 July 2010

Isolated remethylation disorders: do our treatments benefit patients?

Manuel Schiff,  Jean-François Benoist,  Bogdana Tilea,  Nicolas Royer,  Stéphane Giraudier,  Hélène Ogier de Baulny, 
  • Pages: 137-145
  • First Published: 21 May 2010

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

Andrea K. Lawrance,  Julie Racine,  Liyuan Deng,  Xiaoling Wang,  Pierre Lachapelle,  Rima Rozen, 
  • Pages: 147-157
  • First Published: 08 June 2010

Rapid Communication

Open Access

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

Annet M. Bosch,  Nico G. G. M. Abeling,  Lodewijk IJlst,  Hennie Knoester,  W. Ludo van der Pol,  Alida E. M. Stroomer,  Ronald J. Wanders,  Gepke Visser,  Frits A. Wijburg,  Marinus Duran,  Hans R. Waterham, 
  • Pages: 159-164
  • First Published: 26 November 2010

Original Articles

Open Access

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

Amber E. ten Hoedt,  Leo M. J. de Sonneville,  Baudouin Francois,  Nienke M. ter Horst,  Mirian C. H. Janssen,  M. Estela Rubio-Gozalbo,  Frits A. Wijburg,  Carla E. M. Hollak,  Annet M. Bosch, 
  • Pages: 165-171
  • First Published: 10 December 2010

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

Osama Y. Al-Dirbashi,  Stefan Kölker,  Dione Ng,  Lawrence Fisher,  Tony Rupar,  Nathalie Lepage,  Mohamed S. Rashed,  Tomofumi Santa,  Stephen I. Goodman,  Michael T. Geraghty,  Johannes Zschocke,  Ernst Christensen,  Georg F. Hoffmann,  Pranesh Chakraborty, 
  • Pages: 173-180
  • First Published: 27 October 2010
Open Access

Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

L. Tabatabaie,  L. W. J. Klomp,  M. E. Rubio-Gozalbo,  L. J. M. Spaapen,  A. A. M. Haagen,  L. Dorland,  T. J. de Koning, 
  • Pages: 181-184
  • First Published: 27 November 2010

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

Jolanta Sykut-Cegielska,  Wanda Gradowska,  Dorota Piekutowska-Abramczuk,  Brage S. Andresen,  Rikke K. J. Olsen,  Mariusz Ołtarzewski,  Maciej Pronicki,  Magdalena Pajdowska,  Anna Bogdańska,  Ewa Jabłońska,  Barbara Radomyska,  Katarzyna Kuśmierska,  Małgorzata Krajewska-Walasek,  Niels Gregersen,  Ewa Pronicka, 
  • Pages: 185-195
  • First Published: 20 November 2010

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

Ulrike Schara,  Jürgen-Christoph von Kleist-Retzow,  Elke Lainka,  Patrick Gerner,  Angela Pyle,  Paul M. Smith,  Hanns Lochmüller,  Birgit Czermin,  Angela Abicht,  Elke Holinski-Feder,  Rita Horvath, 
  • Pages: 197-201
  • First Published: 10 December 2010
Open Access

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

G. Schulze-Frenking,  Simon A. Jones,  J. Roberts,  M. Beck,  J. E. Wraith, 
  • Pages: 203-208
  • First Published: 27 October 2010

Gaucher disease in sheep

Litsa Karageorgos,  Malcolm J. Lancaster,  Judith S. Nimmo,  John J. Hopwood, 
  • Pages: 209-215
  • First Published: 27 October 2010
Open Access

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

Mette Christophersen Tollånes,  Aasne Karine Aarsand,  Sverre Sandberg, 
  • Pages: 217-223
  • First Published: 27 October 2010

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R

Alev Hasanoglu,  Manisha Balwani,  Çiğdem S. Kasapkara,  Fatih S. Ezgü,  İlyas Okur,  Leyla Tümer,  Alpay Çakmak,  Irina Nazarenko,  Chunli Yu,  Sonia Clavero,  David F. Bishop,  Robert J. Desnick, 
  • Pages: 225-231
  • First Published: 20 November 2010

Images In Metabolic Medicine

Gaucher disease with foamy transformed macrophages and erythrophagocytic activity

Maciej Machaczka,  Monika Klimkowska,  Sofie Regenthal,  Hans Hägglund, 
  • Pages: 233-235
  • First Published: 27 November 2010

Letter to the Editors

Open Access

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.

Gabor E. Linthorst,  Johannes M. F. G. Aerts, 
  • Pages: 237-238
  • First Published: 12 October 2010