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X-linked chondrodysplasia punctata CPDX2: a reliable biochemist approach with perplexing genetics
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Neurocognitive findings in individuals with phenylketonuria and treatment with sapropterin dihydrochloride (BH4)
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
International development of disease-specific questionnaires to assess the impact of phenylketonuria and its treatment on daily life: qualitative steps
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
The effects of phenylalanine levels on the adult brain: the use of a portable saccadometer to measure reaction time in the outpatient setting
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Quantitative proton/T2-mapping and DTI discloses microstructural changes in normal appearing brain tissue in treated PKU-patients
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Maternal phenylketonuria (PKU) practical management in UK metabolic centers
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Treatment options for GAMT deficiency syndrome: results from brain 31P magnetic resonance spectroscopy pilot study in a murine knock-out model
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Assessment of creatine and guanidinoacetic acid in brain, liver and kidney of AGAT and GAMT deficient mice by means of cation-exchange HPLC with post column derivatization
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
In vitro evidence that phytanic acid compromises NA+,K+-ATPase activity and the electron flow through the respiratory chain in brain cortex from young rats
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Phytanic acid induces oxidative stress in cerebellum and cerebral cortex of young rats
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Demethylation of PDHA2 gene leads to its expression in somatic tissues
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
T8993G mutation in ATP-synthase subunit 6 associated with severe hypertrophic cardiomyopathy in 2 patients
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Mitochondrial A3243G mutation load in different samples in a family affected of melas
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Mitochondrial energy impairment in KJER-type optic atrophy
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Rare MTDNA mutations in early onset cases of mitochondrial disease
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Polyneuropathy as the main presenting symptom in PDH deficiency
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Two large gene deletions and one point mutation in the taz gene of patients with barth syndrome
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Good clinical outcome in two patients with complex I deficiency after riboflavin treatment
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Oxidative stress and antioxidant defence accompanied by mitochondrial complex I inhibition following seizures induced in animal model by homocysteic acid
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Clinical characterization of a novel congenital disorder of glycosylation (DPM2 mutation)
British Library Conference Proceedings | 2010|Keywords: Inborn errors
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