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JIMD Reports|February 23, 2013
Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2 : C48R: A Novel Mutation in AGPAT2N Ramanathan, M Ahmed, E Raffan, et al.
JIMD Reports|February 23, 2013
Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published CasesKatalin Komlósi, Anita Maász, Péter Kisfali, et al.
JIMD Reports|February 23, 2013
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophyGerarda Cappuccio, Nicola Brunetti-Pierri, Gaetano Terrone, et al.
JIMD Reports|February 23, 2013
NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh SyndromeAdela Della Marina, Ulrike Schara, Angela Pyle, et al.
JIMD Reports|February 23, 2013
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAEFatma A Al-Jasmi, Nafisa Tawfig, Ans Berniah, et al.
JIMD Reports|February 23, 2013
Simple, Fast, and Simultaneous Detection of Plasma Total Homocysteine, Methylmalonic Acid, Methionine, and 2-Methylcitric Acid Using Liquid Chromatography and Mass Spectrometry (LC/MS/MS)Xiaowei Fu, Yan-Kang Xu, Penny Chan, et al.
JIMD Reports|February 23, 2013
Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type IL Schroeder, P Orchard, C B Whitley, et al.
JIMD Reports|February 23, 2013
Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent EpilepsyMalcolm Proudfoot, Philip Jardine, Agne Straukiene, et al.
JIMD Reports|February 23, 2013
The management of pregnancy in maple syrup urine disease: experience with two patientsMichel Tchan, M Westbrook, G Wilcox, et al.
JIMD Reports|February 23, 2013
Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of TreatmentFilippo Vairo, Cristina Netto, Alicia Dorneles, et al.
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