Showing results (491-500 of 1,270) with videos related to
Sort By:
Pageof 127
JIMD Reports|February 23, 2013
Utility of rare disease registries in latin americaAna Maria Martins, Marcelo Kerstenezky, Adriana Linares, et al.JIMD Reports|February 23, 2013
Immune Modulation Therapy in a CRIM-Positive and IgG Antibody-Positive Infant with Pompe Disease Treated with Alglucosidase Alfa: A Case ReportJosko Markic, Branka Polic, Radenka Kuzmanic-Samija, et al.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.Pageof 127