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Journal of Inherited Metabolic Disease|August 13, 2017
PRKAG2 mutations presenting in infancyRachel D Torok, Stephanie L Austin, Chanika Phornphutkul, et al.Journal of Inherited Metabolic Disease|January 1, 1986
Direct DNA analysis in family studiesS MalcolmJournal of Inherited Metabolic Disease|January 1, 1986
DNA analysis for ornithine transcarbamylase deficiencyR Rozen, J E Fox, A M Hack, et al.Journal of Inherited Metabolic Disease|September 20, 2017
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profilesAlice Kuster, Jean-Baptiste Arnoux, Magalie Barth, et al.Journal of Inherited Metabolic Disease|September 14, 2017
Liver involvement in urea cycle disorders: a review of the literatureAdrien Bigot, Michel C Tchan, Benjamin Thoreau, et al.Journal of Inherited Metabolic Disease|September 3, 2017
The presence of anaemia negatively influences survival in patients with POLG diseaseOmar Hikmat, Charalampos Tzoulis, Claus Klingenberg, et al.Journal of Inherited Metabolic Disease|April 24, 2016
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorderSophie Collardeau-Frachon, Marie-Pierre Cordier, Massimiliano Rossi, et al.Journal of Inherited Metabolic Disease|May 6, 2016
Sirtuin activation as a therapeutic approach against inborn errors of metabolismJeannette C Bleeker, Riekelt H HoutkooperJournal of Inherited Metabolic Disease|December 5, 2015
Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders--review and meta-analysis of observational studies published over more than 35 yearsPeter Burgard, Stefan Kölker, Gisela Haege, et al.Journal of Inherited Metabolic Disease|September 15, 2017
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine diseaseMarie-Thérèse Abi-Wardé, Célina Roda, Jean-Baptiste Arnoux, et al.Pageof 429