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IssueJournal of Inherited Metabolic Disease: Volume 34, Issue 2
247-555April 2011
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Editorial
Free Access
free
Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia
- Pages: 249-255
- First Published: 30 November 2010
Mitochondrial Medicine
no
Biomarkers for mitochondrial respiratory chain disorders
- Pages: 277-282
- First Published: 13 October 2010
Open Access
oa
Biochemical diagnosis of mitochondrial disorders
- Pages: 283-292
- First Published: 04 May 2010
no
Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency
- Pages: 293-307
- First Published: 27 January 2010
no
Altering the balance between healthy and mutated mitochondrial DNA
- Pages: 309-313
- First Published: 27 May 2010
Open Access
oa
Metabolic manipulators: a well founded strategy to combat mitochondrial dysfunction
- Pages: 315-325
- First Published: 29 July 2010
no
Mitochondrial medicine: to a new era of gene therapy for mitochondrial DNA mutations
- Pages: 327-344
- First Published: 23 June 2010
Galactosemia
no
Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?
- Pages: 345-355
- First Published: 19 January 2011
Open Access
oa
Ovarian function in girls and women with GALT-deficiency galactosemia
- Pages: 357-366
- First Published: 27 October 2010
Open Access
oa
Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions
- Pages: 367-376
- First Published: 03 February 2011
no
Voice disorders in children with classic galactosemia
- Pages: 377-385
- First Published: 30 September 2010
Open Access
oa
FSH isoform pattern in classic galactosemia
- Pages: 387-390
- First Published: 03 September 2010
Open Access
oa
Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life
- Pages: 391-398
- First Published: 03 February 2011
no
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening
- Pages: 399-407
- First Published: 03 February 2011
no
Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots
- Pages: 409-414
- First Published: 22 February 2011
Original Articles
Open Access
oa
Psychosocial developmental milestones in men with classic galactosemia
- Pages: 415-419
- First Published: 25 February 2011
Galactosemia
no
Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia
- Pages: 421-427
- First Published: 24 February 2011
Rapid Communication
no
Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity
- Pages: 429-437
- First Published: 03 February 2011
no
Gender variability in presentation with Alpers’ syndrome: a report of eight patients from the UAE
- Pages: 439-441
- First Published: 09 February 2011
Original Articles
no
PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation
- Pages: 443-447
- First Published: 21 January 2011
no
Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time
- Pages: 449-454
- First Published: 03 February 2011
no
A cross-sectional study of docosahexaenoic acid status and cognitive outcomes in females of reproductive age with phenylketonuria
- Pages: 455-463
- First Published: 09 February 2011
Open Access
oa
Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase
- Pages: 465-475
- First Published: 18 December 2010
Open Access
oa
The sodium-dependent di- and tricarboxylate transporter, NaCT, is not responsible for the uptake of D-, L-2-hydroxyglutarate and 3-hydroxyglutarate into neurons
- Pages: 477-482
- First Published: 25 January 2011
no
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1
- Pages: 483-488
- First Published: 13 January 2011
no
Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H)
- Pages: 489-497
- First Published: 21 January 2011
Open Access
oa
Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases
- Pages: 499-508
- First Published: 18 December 2010
Open Access
oa
Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group
- Pages: 509-514
- First Published: 13 January 2011
no
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation
- Pages: 515-522
- First Published: 16 December 2010
no
Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission
- Pages: 523-528
- First Published: 13 January 2011
no
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration
- Pages: 529-538
- First Published: 09 February 2011
no
UK experience of liver transplantation for erythropoietic protoporphyria
- Pages: 539-545
- First Published: 08 February 2011
Images In Metabolic Medicine
no
Sub-pleural bullous changes in two adults with Mucopolysaccharidosis type I (Hurler-Scheie)
- Pages: 547-548
- First Published: 01 February 2011
no
Brain white matter abnormalities in paediatric Gaucher Type I and Type III using diffusion tensor imaging
- Pages: 549-553
- First Published: 12 February 2011
Erratum
Free Access
free
Erratum to: Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?
- Page: 555
- First Published: 11 March 2011
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