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Journal of Inherited Metabolic Disease|February 13, 2021
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?Sara Tucci, Christine Wagner, Sarah C Grünert, et al.Journal of Inherited Metabolic Disease|September 11, 2022
Towards values-based healthcare for inherited metabolic disorders: An overview of current practices for persons with liver glycogen storage disease and fatty acid oxidation disordersAnnieke Venema, Fabian Peeks, Alessandro Rossi, et al.Journal of Inherited Metabolic Disease|September 14, 2022
Aberrant autophagy in lysosomal storage disorders marked by a lysosomal SNARE protein shortage due to suppression of endocytosisHiroki Tanaka, Daisuke Tsuji, Ryosuke Watanabe, et al.Journal of Inherited Metabolic Disease|June 13, 2015
Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?David J Schretlen, Wynne Callon, Rebecca E Ward, et al.Journal of Inherited Metabolic Disease|July 31, 2016
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvementKonstanze Hörtnagel, Inge Krägeloh-Mann, Antje Bornemann, et al.Journal of Inherited Metabolic Disease|June 26, 2015
Ketogenic diets in patients with inherited metabolic disordersS Scholl-Bürgi, A Höller, K Pichler, et al.Journal of Inherited Metabolic Disease|May 23, 2020
Oral batyl alcohol supplementation rescues decreased cardiac conduction in ether phospholipid-deficient miceHannes Todt, Fabian Dorninger, Peter J Rothauer, et al.Journal of Inherited Metabolic Disease|May 23, 2020
Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafishMinela Haskovic, Ana I Coelho, Martijn Lindhout, et al.Journal of Inherited Metabolic Disease|June 10, 2020
Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe RegistryClaudio Semplicini, Marie De Antonio, Nadjib Taouagh, et al.Journal of Inherited Metabolic Disease|April 23, 2020
LC-MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsiesDéborah Mathis, Karin Beese, Carmen Rüegg, et al.Pageof 429