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Journal of Inherited Metabolic Disease|January 23, 2020
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosisErika Ogawa, Takuya Fushimi, Minako Ogawa-Tominaga, et al.Journal of Inherited Metabolic Disease|March 11, 2018
Focus on fatty acids in the neurometabolic pathophysiology of psychiatric disordersR J T Mocking, J Assies, H G Ruhé, et al.Journal of Inherited Metabolic Disease|February 9, 2019
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registryFemke Molema, Florian Gleich, Peter Burgard, et al.Journal of Inherited Metabolic Disease|February 12, 2019
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseasesRoland Posset, Sven F Garbade, Nikolas Boy, et al.Journal of Inherited Metabolic Disease|February 12, 2019
Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: Systematic reviewDalila Fernandes Gomes, Luciana Guerra Gallo, Betânia Ferreira Leite, et al.Journal of Inherited Metabolic Disease|February 12, 2019
Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: Preliminary in vitro studies with analogues of immucillin-GGabriella Jacomelli, Eva Baldini, Claudia Mugnaini, et al.Journal of Inherited Metabolic Disease|February 12, 2019
The decision to discontinue screening for carnitine uptake disorder in New ZealandCallum Wilson, Detlef Knoll, Mark de Hora, et al.Journal of Inherited Metabolic Disease|February 12, 2019
The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: A systematic reviewJoanne Milverton, Skye Newton, Tracy MerlinJournal of Inherited Metabolic Disease|February 12, 2019
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohortAlina Levtova, Paula J Waters, Daniela Buhas, et al.Journal of Inherited Metabolic Disease|February 12, 2019
Keeping an eye on congenital disorders of O-glycosylation: A systematic literature reviewRita Francisco, Carlota Pascoal, Dorinda Marques-da-Silva, et al.Pageof 429