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JIMD Reports|February 23, 2013
A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 GeneM Kilic, M Taskesen, T Coskun, et al.JIMD Reports|February 23, 2013
Successful plasmapheresis for acute and severe unconjugated hyperbilirubinemia in a child with crigler najjar type I syndromeAnne Laure Sellier, Philippe Labrune, Theresa Kwon, et al.JIMD Reports|February 23, 2013
Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VID Sillence, K Waters, S Donaldson, et al.JIMD Reports|February 23, 2013
Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity MappingFaiqa Imtiaz, Abeer Al-Mostafa, Zuhair N Al-HassnanJIMD Reports|February 23, 2013
Galactosemia screening with low false-positive recall rate: the Swedish experienceAnnika Ohlsson, Claes Guthenberg, Ulrika von DöbelnJIMD Reports|February 23, 2013
Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiencyM Casarano, M G Alessandrì, G S Salomons, et al.JIMD Reports|February 23, 2013
Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiencyM Kilic, R K Ozgül, T Coşkun, et al.JIMD Reports|February 23, 2013
Differential expression of matrix metalloproteinases in the serum of patients with mucopolysaccharidosesSpyros P Batzios, Dimitrios I Zafeiriou, Euthymia Vargiami, et al.JIMD Reports|February 23, 2013
Biochemical Monitoring and Management During Pregnancy in Patients with Isovaleric Acidaemia is Helpful to Prevent Metabolic DecompensationD D J Habets, N C Schaper, H Rogozinski, et al.JIMD Reports|February 23, 2013
Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass SpectrometryToshiyuki Fukao, Shinsuke Maruyama, Toshihiro Ohura, et al.Pageof 127