Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics

Compensatory expression of human N-Acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma

(2009) Sandra Pohl et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Molecular analysis of theGNPTABandGNPTGgenes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations

(2009) M Encarnação et al.   CLINICAL GENETICS

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

Molecular order in mucolipidosis II and III nomenclature

(2008) Sara S. Cathey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Sorting of lysosomal proteins

(2008) Thomas Braulke et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Molecular analysis of the GlcNac-1-phosphotransferase

(2008) T. Braulke et al.   JOURNAL OF INHERITED METABOLIC DISEASE

In vivo correction of a Menkes disease model using antisense oligonucleotides

(2008) E. C. Madsen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA