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JIMD Reports|December 9, 2016
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase DeficiencyElsayed Abdelkreem, Radha Rama Devi Akella, Usha Dave, et al.JIMD Reports|December 13, 2016
Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in FibroblastsDamien Bouvier, Christine Vianey-Saban, Séverine Ruet, et al.JIMD Reports|November 6, 2016
Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) DeficiencySavita Verma Attri, Pratibha Singhi, Natrujee Wiwattanadittakul, et al.JIMD Reports|March 2, 2017
Galactose Epimerase Deficiency: Expanding the PhenotypeFilipa Dias Costa, Sacha Ferdinandusse, Carla Pinto, et al.JIMD Reports|February 22, 2017
Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast DiagnosisLisette M Berends, Eduard A Struys, Birthe Roos, et al.JIMD Reports|August 9, 2019
A rare <i>PHKA2</i> variant (p.G991A) identified in a patient with ketotic hypoglycemiaYasuhiko Ago, Hideo Sugie, Tokiko Fukuda, et al.JIMD Reports|August 9, 2019
<i>N</i>-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effectsSufin Yap, Nadine Gougeard, Anthony R Hart, et al.JIMD Reports|October 24, 2018
Acute and Chronic Management in an Atypical Case of Ethylmalonic EncephalopathyThomas M Kitzler, Indra R Gupta, Bradley Osterman, et al.JIMD Reports|November 9, 2018
Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case SeriesPehuén Fernández, Shunko Oscar Fernández, Jacqueline Griselda Mariela Gonzalez, et al.JIMD Reports|September 10, 2019
A rare late progression form of Sly syndrome mucopolysaccharidosisNathalie Guffon, Roseline Froissart, Alain FouilhouxPageof 125