Journal of Inherited Metabolic Disease 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.Synaptic metabolism and brain circuitries in inborn errors of metabolism
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - November 28, 2018 Category: Internal Medicine Source Type: research
Next-generation glycogen storage diseases
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - November 23, 2018 Category: Internal Medicine Source Type: research
Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
Due to a typesetting error the wrong Table 2 was used. The correct Table 2 is shown here: (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - November 19, 2018 Category: Internal Medicine Source Type: research
Response letter
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 27, 2018 Category: Internal Medicine Source Type: research
Letter to the Editors: Concerning “Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia” by Lee et al.
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 25, 2018 Category: Internal Medicine Source Type: research
View from inside
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 24, 2018 Category: Internal Medicine Source Type: research
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD)
In this study, we show the outcome of enzyme testing in lymphocytes a s a confirmatory tool in newborns identified by screening, and the correlation with molecular sequencing of theACADVL gene. From April 2013 to March 2017, in 403 individuals with characteristic acylcarnitine profiles indicative of VLCADD, palmitoyl-CoA oxidation was measured followed by molecular genetic analysis in most of the patients with residual activity (RA)<50%. In almost 50% of the samples (209/403) the RA was>50%, one-third of the individuals (125/403) displayed a RA of 30 –50% and 69/403 individuals showed a residual activity of 0–30%...
Source: Journal of Inherited Metabolic Disease - September 7, 2018 Category: Internal Medicine Source Type: research
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
ConclusionTreatment improves the clinical course of remethylation disorders and reduces morbidity, especially if started early, but neurocognitive and eye symptoms are less responsive. Current treatment is highly variable. This study has the inevitable limitations of a retrospective, registry-based design. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 3, 2018 Category: Internal Medicine Source Type: research
Editorial
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 1, 2018 Category: Internal Medicine Source Type: research
Oral Presentations
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 1, 2018 Category: Internal Medicine Source Type: research
