Volume 118; Issue 1

Molecular Genetics and Metabolism

Volume 118; Issue 1

1

Terminal microdeletions of 13q34 chromosome region in patients with intellectual disability: Delineation of an emerging new microdeletion syndrome

Reinstein, Eyal, Liberman, Meytal, Feingold-Zadok, Michal, Tenne, Tamar, Graham, John M.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 400 KB

english, 2016

2

Salmeterol enhances the cardiac response to gene therapy in Pompe disease

Han, Sang-oh, Li, Songtao, Koeberl, Dwight D.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 982 KB

english, 2016

3

Corrigendum to “Alteration of cerebral iron metabolism in Sanfilippo syndrome” [Mol. Genet. Metab. 117 2, February 2016, p. S97]

Puy, Vincent, Bodet, Pierre-Edouard, Rottier, Camille, Delaunay, Rémi, Gomila, Cathy, Hodroge, Ahmed, Rackowski, Liliane, Lefebvre, Thibaud, Karim, Zoubida, Vitry, Sandrine, Gonnet, Florence, Daniel,

Journal:

Molecular Genetics and Metabolism

Year:

2016

File:

PDF, 121 KB

2016

4

Table of Contents

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 93 KB

english, 2016

5

Morphometric analysis of gray matter integrity in individuals with early-treated phenylketonuria

Christ, Shawn E., Price, Mason H., Bodner, Kimberly E., Saville, Christopher, Moffitt, Amanda J., Peck, Dawn

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 563 KB

english, 2016

6

Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells

Monestime, Gianina, Borger, Daniel K., Kim, Jenny, Lopez, Grisel, Allgaeuer, Michael, Jain, Dhanpat, Vortmeyer, Alexander, Wang, Hao-Wei, Sidransky, Ellen

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 1023 KB

english, 2016

7

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 75 KB

english, 2016