Volume 34, Issue 1

Journal of Inherited Metabolic Disease is now archived and no longer receiving submissions with this publisher. All articles published in the journal during its time with Springer will remain fully searchable through our websites.

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February 2011

29 articles in this issue

Foreword to special issue on homocysteine disorders
Brian Fowler
Henk J. Blom
Viktor Kožich
Editorial Open access 11 January 2011 Pages: 1 - 2
Choline and betaine in health and disease
Per Magne Ueland
Homocysteine and B-Vitamin Metabolism 06 May 2010 Pages: 3 - 15
Dealing with methionine/homocysteine sulfur: cysteine metabolism to taurine and inorganic sulfur
Martha H. Stipanuk
Iori Ueki
Homocysteine and B-Vitamin Metabolism 17 February 2010 Pages: 17 - 32
Vascular presentation of cystathionine beta-synthase deficiency in adulthood
Martin Magner
Lucie Krupková
Viktor Kožich
Homocysteine and B-Vitamin Metabolism Open access 22 June 2010 Pages: 33 - 37
Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones
Jana Kopecká
Jakub Krijt
Viktor Kožich
Homocysteine and B-Vitamin Metabolism Open access 20 May 2010 Pages: 39 - 48
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency
Jakub Krijt
Jana Kopecká
Viktor Kožich
Homocysteine and B-Vitamin Metabolism Open access 07 September 2010 Pages: 49 - 55
Homocysteine is transported by the microvillous plasma membrane of human placenta
Eleni Tsitsiou
Colin P. Sibley
Jocelyn D. Glazier
Homocysteine and B-Vitamin Metabolism 22 June 2010 Pages: 57 - 65
Mandatory fortification of the food supply with cobalamin: an idea whose time has not yet come
Ralph Carmel
Homocysteine and B-Vitamin Metabolism 25 June 2010 Pages: 67 - 73
Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects
Henk J. Blom
Yvo Smulders
Homocysteine and B-Vitamin Metabolism Open access 04 September 2010 Pages: 75 - 81
Homocysteine and vascular disease: review of published results of the homocysteine-lowering trials
Robert Clarke
Jim Halsey
Sarah Lewington
Homocysteine and B-Vitamin Metabolism 11 November 2010 Pages: 83 - 91
The homocysteine controversy
Yvo M. Smulders
Henk J. Blom
Homocysteine and B-Vitamin Metabolism Open access 22 June 2010 Pages: 93 - 99
Folate and cancer: how DNA damage, repair and methylation impact on colon carcinogenesis
Susan J. Duthie
Homocysteine and B-Vitamin Metabolism 11 June 2010 Pages: 101 - 109
Cobalamin status in children
Anne-Lise Bjørke-Monsen
Per Magne Ueland
Homocysteine and B-Vitamin Metabolism 27 May 2010 Pages: 111 - 119
LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism
Frank Rutsch
Susann Gailus
Brian Fowler
Homocysteine and B-Vitamin Metabolism 06 May 2010 Pages: 121 - 126
Cobalamin C defect: natural history, pathophysiology, and treatment
Diego Martinelli
Federica Deodato
Carlo Dionisi-Vici
Homocysteine and B-Vitamin Metabolism 15 July 2010 Pages: 127 - 135
Isolated remethylation disorders: do our treatments benefit patients?
Manuel Schiff
Jean-François Benoist
Hélène Ogier de Baulny
Homocysteine and B-Vitamin Metabolism 21 May 2010 Pages: 137 - 145
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
Rima Rozen
Homocysteine and B-Vitamin Metabolism 08 June 2010 Pages: 147 - 157
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
Hans R. Waterham
Rapid Communication Open access 26 November 2010 Pages: 159 - 164
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
Annet M. Bosch
Original Article Open access 10 December 2010 Pages: 165 - 171
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
Pranesh Chakraborty
Original Article 27 October 2010 Pages: 173 - 180
Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency
L. Tabatabaie
L. W. J. Klomp
T. J. de Koning
Original Article Open access 27 November 2010 Pages: 181 - 184
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
Ewa Pronicka
Original Article 20 November 2010 Pages: 185 - 195
Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations
Ulrike Schara
Jürgen-Christoph von Kleist-Retzow
Rita Horvath
Original Article 10 December 2010 Pages: 197 - 201
Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II
G. Schulze-Frenking
Simon A. Jones
J. E. Wraith
Original Article Open access 27 October 2010 Pages: 203 - 208
Gaucher disease in sheep
Litsa Karageorgos
Malcolm J. Lancaster
John J. Hopwood
Original Article 27 October 2010 Pages: 209 - 215
Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study
Mette Christophersen Tollånes
Aasne Karine Aarsand
Sverre Sandberg
Original Article Open access 27 October 2010 Pages: 217 - 223
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R
Alev Hasanoglu
Manisha Balwani
Robert J. Desnick
Original Article 20 November 2010 Pages: 225 - 231
Gaucher disease with foamy transformed macrophages and erythrophagocytic activity
Maciej Machaczka
Monika Klimkowska
Hans Hägglund
Images in Metabolic Medicine 27 November 2010 Pages: 233 - 235
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
Letter to the Editors Open access 12 October 2010 Pages: 237 - 238

Volume 34, Issue 1

Foreword to special issue on homocysteine disorders

Choline and betaine in health and disease

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

Vascular presentation of cystathionine beta-synthase deficiency in adulthood

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

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

Homocysteine is transported by the microvillous plasma membrane of human placenta

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

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

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

The homocysteine controversy

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

Cobalamin status in children

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

Cobalamin C defect: natural history, pathophysiology, and treatment

Isolated remethylation disorders: do our treatments benefit patients?

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

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

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

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

Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

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

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

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

Gaucher disease in sheep

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

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R

Gaucher disease with foamy transformed macrophages and erythrophagocytic activity

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.

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