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Journal of Inherited Metabolic Disease|February 1, 2019
Factor VIII and vWF deficiency in STT3A-CDGIrene J Chang, Heather M Byers, Bobby G Ng, et al.Journal of Inherited Metabolic Disease|February 7, 2019
Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospectsJulien Baruteau, Carmen Diez-Fernandez, Shaul Lerner, et al.Journal of Inherited Metabolic Disease|March 21, 2018
Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapyJan C van der Meijden, Michelle E Kruijshaar, Laurike Harlaar, et al.Journal of Inherited Metabolic Disease|March 21, 2018
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disordersMonique Piraud, Magali Pettazzoni, Pamela Lavoie, et al.Journal of Inherited Metabolic Disease|February 21, 2018
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutationsDouglas Chesher, Michael Oddy, Ulpee Darbar, et al.Journal of Inherited Metabolic Disease|February 21, 2018
Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategiesKara R Vogel, Garrett R Ainslie, Dana C Walters, et al.Journal of Inherited Metabolic Disease|February 14, 2018
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?Alessandro Rossi, Margherita Ruoppolo, Pietro Formisano, et al.Journal of Inherited Metabolic Disease|March 3, 2018
Clinical glycomics for the diagnosis of congenital disorders of glycosylationNurulamin Abu Bakar, Dirk J Lefeber, Monique van ScherpenzeelJournal of Inherited Metabolic Disease|July 5, 2016
Phenotyping GABA transaminase deficiency: a case description and literature reviewPedro Louro, Lina Ramos, Conceição Robalo, et al.Journal of Inherited Metabolic Disease|January 24, 2023
ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypesS De Feyter, A Beyens, B CallewaertPageof 429