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JIMD Reports|November 11, 2018
The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian FederationG V Baydakova, T A Ivanova, S V Mikhaylova, et al.JIMD Reports|November 19, 2016
Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's HospitalNieves Martín-Begué, Silvia Alarcón, Charlotte Wolley-Dod, et al.JIMD Reports|November 19, 2016
Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the LiteratureAlison Christy, William Nyhan, Jenny WilsonJIMD Reports|November 19, 2016
Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) PatientE Maines, G Morandi, G Gugelmo, et al.JIMD Reports|October 9, 2016
Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition TablesAna Claudia Marquim F Araújo, Wilma M C Araújo, Ursula M Lanfer Marquez, et al.JIMD Reports|December 9, 2016
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian ExperienceJayesh Sheth, Mehul Mistri, Krati Shah, et al.JIMD Reports|December 9, 2016
Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?Sema Kalkan Ucar, Johannes A Mayr, René G Feichtinger, et al.JIMD Reports|February 18, 2014
Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhoodAnne Roubergue, Bertrand Philibert, Agnès Gautier, et al.JIMD Reports|February 19, 2017
Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protein Thioesterase-1Charles Shyng, Shannon L Macauley, Joshua T Dearborn, et al.JIMD Reports|February 19, 2017
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase DeficiencyS S Johansen, X Wang, D Sejer Pedersen, et al.Pageof 127