Molecular Genetics and Metabolism

1

Cerebral lipid accumulation in Chanarin–Dorfman Syndrome

Huigen, Marleen C.D.G., van der Graaf, Marinette, Morava, Eva, Dassel, A. Carin M., van Steensel, Maurice A.M., Seyger, Marieke M.B., Wevers, Ron A., Willemsen, Michèl A.

Journal:

Year:

2015

Language:

english

File:

PDF, 619 KB

english, 2015

2

Mathematical modeling of the insulin signal transduction pathway for prediction of insulin sensitivity from expression data

Ho, Clark K., Rahib, Lola, Liao, James C., Sriram, Ganesh, Dipple, Katrina M.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 493 KB

english, 2015

3

Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

Ortez, C., Duarte, S.T., Ormazábal, A., Serrano, M., Pérez, A., Pons, R., Pineda, M., Yapici, Z., Fernández-Álvarez, E., Domingo-Jiménez, R., De Castro, P., Artuch, R., García-Cazorla, A.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.19 MB

english, 2015

4

Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria

Rohr, Frances, Wessel, Ann, Brown, Matthew, Charette, Kalin, Levy, Harvey L.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 325 KB

english, 2015

5

Prolonged exposure to high and variable phenylalanine levels over the lifetime predicts brain white matter integrity in children with phenylketonuria

Hood, Anna, Antenor-Dorsey, Jo Ann V., Rutlin, Jerrel, Hershey, Tamara, Shimony, Joshua S., McKinstry, Robert C., Grange, Dorothy K., Christ, Shawn E., Steiner, Robert, White, Desiree A.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 612 KB

english, 2015

6

Effects of sodium benzoate, a widely used food preservative, on glucose homeostasis and metabolic profiles in humans

Lennerz, Belinda S., Vafai, Scott B., Delaney, Nigel F., Clish, Clary B., Deik, Amy A., Pierce, Kerry A., Ludwig, David S., Mootha, Vamsi K.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.07 MB

english, 2015

7

In vitro functional correction of Hermansky–Pudlak Syndrome type-1 by lentiviral-mediated gene transfer

Ikawa, Yasuhiro, Hess, Richard, Dorward, Heidi, Cullinane, Andrew R., Huizing, Marjan, Gochuico, Bernadette R., Gahl, William A., Candotti, Fabio

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 685 KB

english, 2015

8

Clinical severity in Lesch–Nyhan disease: The role of residual enzyme and compensatory pathways

Fu, Rong, Sutcliffe, Diane, Zhao, Hong, Huang, Xinyi, Schretlen, David J., Benkovic, Steve, Jinnah, H.A.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 466 KB

english, 2015

9

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy

Turgeon, Coleman T., Moser, Ann B., Mørkrid, Lars, Magera, Mark J., Gavrilov, Dimitar K., Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Matern, Dietrich, Tortorelli, Silvia

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 320 KB

english, 2015

10

BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations

van Vliet, Danique, Anjema, Karen, Jahja, Rianne, de Groot, Martijn J., Liemburg, Geertje B., Heiner-Fokkema, M. Rebecca, van der Zee, Eddy A., Derks, Terry G.J., Kema, Ido P., van Spronsen, Francjan

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 274 KB

english, 2015

11

Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency

Lin, Su Ru, Pan, Chi-Jiunn, Mansfield, Brian C., Chou, Janice Yang

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 477 KB

english, 2015

12

Adult liver disorders caused by inborn errors of metabolism: Review and update

Chanprasert, Sirisak, Scaglia, Fernando

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 432 KB

english, 2015

13

Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome

Charrow, Joel, Alden, Tord D., Breathnach, Catherine Ann R., Frawley, Geoffrey P., Hendriksz, Christian J., Link, Bianca, Mackenzie, William G., Manara, Renzo, Offiah, Amaka C., Solano, Martha L., The

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

14

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 75 KB

english, 2015

16

Reviewer Acknowledgements

Journal:

Molecular Genetics and Metabolism

Year:

2015

File:

PDF, 88 KB

2015

Volume 114; Issue 1

Cerebral lipid accumulation in Chanarin–Dorfman Syndrome

Mathematical modeling of the insulin signal transduction pathway for prediction of insulin sensitivity from expression data

Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria

Prolonged exposure to high and variable phenylalanine levels over the lifetime predicts brain white matter integrity in children with phenylketonuria

Effects of sodium benzoate, a widely used food preservative, on glucose homeostasis and metabolic profiles in humans

In vitro functional correction of Hermansky–Pudlak Syndrome type-1 by lentiviral-mediated gene transfer

Clinical severity in Lesch–Nyhan disease: The role of residual enzyme and compensatory pathways

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy

BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations

Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency

Adult liver disorders caused by inborn errors of metabolism: Review and update

Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome

Table of Contents

Editorial Board

Reviewer Acknowledgements