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JIMD Reports|February 23, 2013
The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsyRosanne Peuscher, Monique E Dijsselhof, Nico G Abeling, et al.JIMD Reports|February 23, 2013
Use of Gastrostomy Tube to Prevent Maternal PKU SyndromeJessica A Scott Schwoerer, Lisa Obernolte, Sandra Van Calcar, et al.JIMD Reports|February 23, 2013
D-serine influences synaptogenesis in a p19 cell modelSabine A Fuchs, Martin W Roeleveld, Leo W J Klomp, et al.JIMD Reports|February 23, 2013
Homocysteine and erythrocyte sedimentation rate correlate with cerebrovascular disease in fabry diseaseR Cheung, D O Sillence, M C TchanJIMD Reports|October 14, 2014
Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type IIIAlessandra Brambilla, Savina Mannarino, Roberta Pretese, et al.JIMD Reports|October 14, 2014
Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier DiseaseLiam R Brunham, Martin H Kang, Clara Van Karnebeek, et al.JIMD Reports|October 14, 2014
Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern OntarioA Ferrand, V M Siu, C A Rupar, et al.JIMD Reports|September 22, 2014
m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn ScreeningMari Mori, John R Mytinger, Lisa C Martin, et al.JIMD Reports|October 3, 2013
Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R MutationT P Slavin, S J Zaidi, C Neal, et al.JIMD Reports|October 22, 2013
Pregnancy and lactation outcomes in a Turkish patient with lysinuric protein intoleranceOzlem Unal, Turgay Coşkun, Diclehan Orhan, et al.Pageof 127