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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 BeckerJIMD Reports|February 23, 2013
The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsyRosanne Peuscher, Monique E Dijsselhof, Nico G Abeling, et al.JIMD Reports|February 23, 2013
Use of Gastrostomy Tube to Prevent Maternal PKU SyndromeJessica A Scott Schwoerer, Lisa Obernolte, Sandra Van Calcar, et al.Pageof 127