Showing results (501-510 of 1,270) with videos related to
Sort By:
Pageof 127
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.JIMD Reports|February 23, 2013
Dietary protein counting as an alternative way of maintaining metabolic control in phenylketonuriaA L Sweeney, R M Roberts, J M FletcherJIMD Reports|February 23, 2013
Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation DatabaseAndrea Zatkova, Tatiana Sedlackova, Jan Radvansky, et al.JIMD Reports|February 23, 2013
Epilepsy in biotinidase deficiency after biotin treatmentSalvador Ibáñez Micó, Rosario Domingo Jiménez, Eduardo Martínez Salcedo, et al.JIMD Reports|February 23, 2013
A Non-classical Presentation of Tangier Disease with Three ABCA1 MutationsMuhammad Ali Pervaiz, Gerald Gau, Allan S Jaffe, et al.JIMD Reports|February 23, 2013
Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta PatientMaria Francisca Coutinho, Liliana da Silva Santos, Lúcia Lacerda, et al.JIMD Reports|February 23, 2013
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?Christineh N Sarkissian, Alejandra Gamez, Patrick Scott, et al.JIMD Reports|February 23, 2013
Severe infusion reactions to fabry enzyme replacement therapy: rechallenge after tracheostomyK Nicholls, K Bleasel, G BeckerPageof 127