Structural modeling of mutant α-glucosidases resulting in a processing/transport defect in Pompe disease

Binding parameters and thermodynamics of the interaction of imino sugars with a recombinant human acid α-glucosidase (alglucosidase alfa): Insight into the complex formation mechanism

(2008) Michiru Yoshimizu et al.   CLINICA CHIMICA ACTA

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

(2008) Marian Kroos et al.   HUMAN MUTATION

Structural characterization of mutant α-galactosidases causing Fabry disease

(2008) Kanako Sugawara et al.   JOURNAL OF HUMAN GENETICS

Structural study on mutant α-l-iduronidases: insight into mucopolysaccharidosis type I

(2008) Kanako Sugawara et al.   JOURNAL OF HUMAN GENETICS

Structural consequences of amino acid substitutions causing Tay–Sachs disease

(2008) Kazuki Ohno et al.   MOLECULAR GENETICS AND METABOLISM

Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: Insight into mucopolysaccharidosis type VI

(2008) Seiji Saito et al.   MOLECULAR GENETICS AND METABOLISM

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

(2008) Y.-H. Chien et al.   PEDIATRICS

Human Intestinal Maltase–Glucoamylase: Crystal Structure of the N-Terminal Catalytic Subunit and Basis of Inhibition and Substrate Specificity

(2007) Lyann Sim et al.   JOURNAL OF MOLECULAR BIOLOGY