Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG)

Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients

(2009) Hudson H. Freeze   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia

(2009) Ana I. Vega et al.   HUMAN MUTATION

Functional properties of missense variants of human tryptophan hydroxylase 2

(2009) Jeffrey A. McKinney et al.   HUMAN MUTATION

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides

(2009) Micha A. Haeuptle et al.   HUMAN MUTATION

Loss of Function in Phenylketonuria Is Caused by Impaired Molecular Motions and Conformational Instability

(2008) Søren W. Gersting et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

(2008) Angel L. Pey et al.   JOURNAL OF CLINICAL INVESTIGATION