Molecular Genetics and Metabolism

1

Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study

Nardecchia, Francesca, Manti, Filippo, Chiarotti, Flavia, Carducci, Claudia, Carducci, Carla, Leuzzi, Vincenzo

Journal:

Year:

2015

Language:

english

File:

PDF, 315 KB

english, 2015

2

Aromatic l-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma

Atwal, Paldeep S., Donti, Taraka R., Cardon, Aaron L., Bacino, C.A., Sun, Qin, Emrick, L., Reid Sutton, V., Elsea, Sarah H.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 352 KB

english, 2015

3

Altered DNA methylation in PAH deficient phenylketonuria

Dobrowolski, Steven F., Lyons-Weiler, James, Spridik, Kayla, Biery, Amy, Breck, Jane, Vockley, Jerry, Yatsenko, Svetlana, Sultana, Tamanna

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 305 KB

english, 2015

4

Simple and inexpensive quantification of ammonia in whole blood

Ayyub, Omar B., Behrens, Adam M., Heligman, Brian T., Natoli, Mary E., Ayoub, Joseph J., Cunningham, Gary, Summar, Marshall, Kofinas, Peter

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 761 KB

english, 2015

5

Various lamin A/C mutations alter expression profile of mesenchymal stem cells in mutation specific manner

Malashicheva, Anna, Bogdanova, Maria, Zabirnyk, Arsenii, Smolina, Natalia, Ignatieva, Elena, Freilikhman, Olga, Fedorov, Anton, Dmitrieva, Renata, Sjöberg, Gunnar, Sejersen, Thomas, Kostareva, Anna

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.61 MB

english, 2015

6

Minimally invasive 13C-breath test to examine phenylalanine metabolism in children with phenylketonuria

Turki, Abrar, Murthy, Gayathri, Ueda, Keiko, Cheng, Barbara, Giezen, Alette, Stockler-Ipsiroglu, Sylvia, Elango, Rajavel

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 633 KB

english, 2015

7

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

Lam, Christina, Golas, Gretchen A., Davids, Mariska, Huizing, Marjan, Kane, Megan S., Krasnewich, Donna M., Malicdan, May Christine V., Adams, David R., Markello, Thomas C., Zein, Wadih M., Gropman, A

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.63 MB

english, 2015

8

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 75 KB

english, 2015

9

Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5

Gilliam, D., Kolicheski, A., Johnson, G.S., Mhlanga-Mutangadura, T., Taylor, J.F., Schnabel, R.D., Katz, M.L.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.56 MB

english, 2015

11

Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings

Missaglia, Sara, Tasca, Elisabetta, Angelini, Corrado, Moro, Laura, Tavian, Daniela

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.96 MB

english, 2015

12

Next generation sequencing in endocrine practice

Forlenza, Gregory P., Calhoun, Amy, Beckman, Kenneth B., Halvorsen, Tanya, Hamdoun, Elwaseila, Zierhut, Heather, Sarafoglou, Kyriakie, Polgreen, Lynda E., Miller, Bradley S., Nathan, Brandon, Petryk,

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 352 KB

english, 2015

Volume 115; Issue 2-3

Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study

Aromatic l-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma

Altered DNA methylation in PAH deficient phenylketonuria

Simple and inexpensive quantification of ammonia in whole blood

Various lamin A/C mutations alter expression profile of mesenchymal stem cells in mutation specific manner

Minimally invasive 13C-breath test to examine phenylalanine metabolism in children with phenylketonuria

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

Editorial Board

Table of Contents

Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5

Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings

Next generation sequencing in endocrine practice