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Journal of Inherited Metabolic Disease|February 14, 2013
MRI morphometric characterisation of the paediatric cervical spine and spinal cord in children with MPS IVA (Morquio-Brailsford syndrome)Guirish A Solanki, William B Lo, Christian J HendrikszJournal of Inherited Metabolic Disease|February 15, 2013
Hypertrichosis in presymptomatic mitochondrial diseaseFabian Baertling, Ertan Mayatepek, Felix DistelmaierJournal of Inherited Metabolic Disease|February 16, 2013
Cyclodextrin alleviates neuronal storage of cholesterol in Niemann-Pick C disease without evidence of detectable blood-brain barrier permeabilityCharles C Pontikis, Cristin D Davidson, Steven U Walkley, et al.Journal of Inherited Metabolic Disease|February 7, 2013
Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritisMikhail M Kostik, Irina A Chikova, Vladislav V Avramenko, et al.Journal of Inherited Metabolic Disease|November 27, 2012
Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VIAna C M Azevedo, Osvaldo Artigalás, Leonardo Vedolin, et al.Journal of Inherited Metabolic Disease|May 16, 2013
Gastrointestinal and hepatic manifestations of mitochondrial disordersShamima RahmanJournal of Inherited Metabolic Disease|March 28, 2013
In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuriaGladys Ho, Juergen Reichardt, John ChristodoulouJournal of Inherited Metabolic Disease|June 21, 2013
Maternal Phenylketonuria International Collaborative Study revisited: evaluation of maternal nutritional risk factors besides phenylalanine for fetal congenital heart defectsShoji Yano, Kathryn Moseley, Teodoro Bottiglieri, et al.Journal of Inherited Metabolic Disease|March 28, 2002
Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: a familial studyC Tonetti, J Amiel, A Munnich, et al.Journal of Inherited Metabolic Disease|March 28, 2002
Prolidase deficiency diagnosed by 1H NMR spectroscopy of urineS H Moolenaar, U F Engelke, N G Abeling, et al.Pageof 429