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JIMD Reports|February 23, 2013
Recommendations for pregnancies in patients with crigler-najjar syndromeJ H Paul Wilson, Maarten Sinaasappel, Fred K Lotgering, et al.
JIMD Reports|February 23, 2013
In vivo bone architecture in pompe disease using high-resolution peripheral computed tomographyAneal Khan, Zachary Weinstein, David A Hanley, et al.
JIMD Reports|February 23, 2013
5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense ChangesEduardo Calpena, Mercedes Casado, Dolores Martínez-Rubio, et al.
JIMD Reports|February 23, 2013
A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage DisordersStefanie Kung, Mark Walters, Peter Claes, et al.
JIMD Reports|February 23, 2013
Inheritance of the m.3243A>G mutationPaul de Laat, Saskia Koene, Lambert P W J Vd Heuvel, et al.
JIMD Reports|February 23, 2013
Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortageGabor E Linthorst, Alessandro P Burlina, Franco Cecchi, et al.
JIMD Reports|February 23, 2013
Mannose 6-phosphate conjugation is not sufficient to allow induction of immune tolerance to phenylalanine ammonia-lyase in dogsMoin Vera, Thomas Lester, Bin Zhao, et al.
JIMD Reports|February 23, 2013
Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERTW Terryn, R Vanholder, D Hemelsoet, et al.
JIMD Reports|February 23, 2013
Barriers to transplantation in adults with inborn errors of metabolismS M Sirrs, H Faghfoury, E M Yoshida, et al.
JIMD Reports|February 23, 2013
Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase DeficiencyElsebet Ostergaard, Morten Duno, Lisbeth Birk Møller, et al.
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