Molecular Genetics and Metabolism

1

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Parikh, Sumit, Bernard, Geneviève, Leventer, Richard J., van der Knaap, Marjo S., van Hove, Johan, Pizzino, Amy, McNeill, Nathan H., Helman, Guy, Simons, Cas, Schmidt, Johanna L., Rizzo, William B., P

Journal:

Year:

2015

Language:

english

File:

PDF, 1.13 MB

english, 2015

2

Case definition and classification of leukodystrophies and leukoencephalopathies

Vanderver, Adeline, Prust, Morgan, Tonduti, Davide, Mochel, Fanny, Hussey, Heather M., Helman, Guy, Garbern, James, Eichler, Florian, Labauge, Pierre, Aubourg, Patrick, Rodriguez, Diana, Patterson, Ma

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 279 KB

english, 2015

3

Disease specific therapies in leukodystrophies and leukoencephalopathies

Helman, Guy, Van Haren, Keith, Bonkowsky, Joshua L., Bernard, Genevieve, Pizzino, Amy, Braverman, Nancy, Suhr, Dean, Patterson, Marc C., Ali Fatemi, S., Leonard, Jeff, van der Knaap, Marjo S., Back, S

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 444 KB

english, 2015

4

Nucleotide substitutions revealing specific functions of Polycomb group genes

Bajusz, Izabella, Sipos, László, Pirity, Melinda K.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 947 KB

english, 2015

5

Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling

Trefz, Friedrich, Lichtenberger, Olaf, Blau, Nenad, Muntau, Ania C., Feillet, Francois, Bélanger-Quintana, Amaya, van Spronsen, Francjan, Munafo, Alain

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 468 KB

english, 2015

6

Consensus statement on preventive and symptomatic care of leukodystrophy patients

Van Haren, Keith, Bonkowsky, Joshua L., Bernard, Genevieve, Murphy, Jennifer L., Pizzino, Amy, Helman, Guy, Suhr, Dean, Waggoner, Jacque, Hobson, Don, Vanderver, Adeline, Patterson, Marc C.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 388 KB

english, 2015

7

Mucopolysaccharidosis enzyme production by bone marrow and dental pulp derived human mesenchymal stem cells

Jackson, Matilda, Derrick Roberts, Ainslie, Martin, Ellenore, Rout-Pitt, Nathan, Gronthos, Stan, Byers, Sharon

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.46 MB

english, 2015

8

Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia

Pérez-López, Jordi, Selva-O'Callaghan, Albert, Grau-Junyent, Josep M., Gallego-Galindo, Luis, Coll, M. Josep, García-Morillo, Salvador, Torralba-Cabeza, Miguel A., Vilardell-Tarrés, Miquel

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 366 KB

english, 2015

9

Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines

Vogel, B.H., Bradley, S.E., Adams, D.J., D'Aco, K., Erbe, R.W., Fong, C., Iglesias, A., Kronn, D., Levy, P., Morrissey, M., Orsini, J., Parton, P., Pellegrino, J., Saavedra-Matiz, C.A., Shur, N., Wass

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 506 KB

english, 2015

10

Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance

Weisfeld-Adams, James D., McCourt, Emily A., Diaz, George A., Oliver, Scott C.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.11 MB

english, 2015

11

Consequences of impaired purine recycling on the proteome in a cellular model of Lesch–Nyhan disease

Dammer, Eric B., Göttle, Martin, Duong, Duc M., Hanfelt, John, Seyfried, Nicholas T., Jinnah, H.A.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 767 KB

english, 2015

12

Quantifying behaviors of children with Sanfilippo syndrome: The Sanfilippo Behavior Rating Scale

Shapiro, Elsa G., Nestrasil, Igor, Ahmed, Alia, Wey, Andrew, Rudser, Kyle R., Delaney, Kathleen A., Rumsey, Robin K., Haslett, Patrick A.J., Whitley, Chester B., Potegal, Michael

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 287 KB

english, 2015

13

Perinatal nicotine exposure suppresses PPARγ epigenetically in lung alveolar interstitial fibroblasts

Gong, M., Liu, J., Sakurai, R., Corre, A., Anthony, S., Rehan, V.K.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.48 MB

english, 2015

14

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 76 KB

english, 2015

15

Long-term safety and efficacy of sapropterin: The PKUDOS registry experience

Longo, Nicola, Arnold, Georgianne L., Pridjian, Gabriella, Enns, Gregory M., Ficicioglu, Can, Parker, Susan, Cohen-Pfeffer, Jessica L.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 436 KB

english, 2015

17

Leukodystrophy or genetic leukoencephalopathy? Nature does not make leaps

Salsano, Ettore

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 275 KB

english, 2015

18

Corrigendum to “Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy” [Mol. Genet. Metab. 106 (2012) 345–350]

Vauthier, Virginie, Jaillard, Sylvie, Journel, Hubert, Dubourg, Christèle, Jockers, Ralf, Dam, Julie

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 112 KB

english, 2015

Volume 114; Issue 4

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Case definition and classification of leukodystrophies and leukoencephalopathies

Disease specific therapies in leukodystrophies and leukoencephalopathies

Nucleotide substitutions revealing specific functions of Polycomb group genes

Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling

Consensus statement on preventive and symptomatic care of leukodystrophy patients

Mucopolysaccharidosis enzyme production by bone marrow and dental pulp derived human mesenchymal stem cells

Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia

Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines

Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance

Consequences of impaired purine recycling on the proteome in a cellular model of Lesch–Nyhan disease

Quantifying behaviors of children with Sanfilippo syndrome: The Sanfilippo Behavior Rating Scale

Perinatal nicotine exposure suppresses PPARγ epigenetically in lung alveolar interstitial fibroblasts

Editorial Board

Table of Contents

Long-term safety and efficacy of sapropterin: The PKUDOS registry experience

Leukodystrophy or genetic leukoencephalopathy? Nature does not make leaps

Corrigendum to “Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy” [Mol. Genet. Metab. 106 (2012) 345–350]