Molecular Genetics and Metabolism

1

A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria

Burton, B., Grant, M., Feigenbaum, A., Singh, R., Hendren, R., Siriwardena, K., Phillips, J., Sanchez-Valle, A., Waisbren, S., Gillis, J., Prasad, S., Merilainen, M., Lang, W., Zhang, C., Yu, S., Stah

Journal:

Year:

2015

Language:

english

File:

PDF, 750 KB

english, 2015

2

Targeting novel signaling pathways for resistant acute myeloid leukemia

Sakamoto, Kathleen M., Grant, Steven, Saleiro, Diana, Crispino, John D., Hijiya, Nobuko, Giles, Francis, Platanias, Leonidas, Eklund, Elizabeth A.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 380 KB

english, 2015

3

An audit of newborn screening procedure: Impact on infants presenting clinically before results are available

Tal, Galit, Pitt, James, Morrisy, Sally, Tzanakos, Nicholas, Boneh, Avihu

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 628 KB

english, 2015

4

Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome

Gertsman, Ilya, Gangoiti, Jon A., Nyhan, William L., Barshop, Bruce A.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.04 MB

english, 2015

5

Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans

Oppelt, Sarah A., Sennott, Erin M., Tolan, Dean R.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1022 KB

english, 2015

6

Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

Falk, Marni J., Shen, Lishuang, Gonzalez, Michael, Leipzig, Jeremy, Lott, Marie T., Stassen, Alphons P.M., Diroma, Maria Angela, Navarro-Gomez, Daniel, Yeske, Philip, Bai, Renkui, Boles, Richard G., B

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 2.26 MB

english, 2015

7

Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features

Rafi, Mohammad A., Rao, Han Zhi, Luzi, Paola, Luddi, Alice, Curtis, Mark T., Wenger, David A.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 2.89 MB

english, 2015

8

Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride

Stockler-Ipsiroglu, Sylvia, Yuskiv, Nataliya, Salvarinova, Ramona, Apatean, Delia, Ho, Gloria, Cheng, Barbara, Giezen, Alette, Lillquist, Yolanda, Ueda, Keiko

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 427 KB

english, 2015

9

Why screen newborns for profound and partial biotinidase deficiency?

Wolf, Barry

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 247 KB

english, 2015

10

Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation

Laemmle, Alexander, Hahn, Dagmar, Hu, Liyan, Rüfenacht, Véronique, Gautschi, Matthias, Leibundgut, Kurt, Nuoffer, Jean-Marc, Häberle, Johannes

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 490 KB

english, 2015

11

Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia

Nellist, Mark, Schot, Rachel, Hoogeveen-Westerveld, Marianne, Neuteboom, Rinze F., van der Louw, Elles J.T.M., Lequin, Maarten H., Bindels-de Heus, Karen, Sibbles, Barbara J., de Coo, René, Brooks, Al

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.04 MB

english, 2015

12

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

Markello, Thomas, Chen, Dong, Kwan, Justin Y., Horkayne-Szakaly, Iren, Morrison, Alan, Simakova, Olga, Maric, Irina, Lozier, Jay, Cullinane, Andrew R., Kilo, Tatjana, Meister, Lynn, Pakzad, Kourosh, B

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 2.16 MB

english, 2015

13

Hyperphenylalaninemia and the genomic revolution

Rajabi, Farrah, Levy, Harvey L.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 152 KB

english, 2015

14

Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

Liemburg, Geertje B., Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M.J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E.M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C.G.J.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 242 KB

english, 2015

15

Abstract Index

Journal:

Molecular Genetics and Metabolism

Year:

2015

File:

PDF, 100 KB

2015

16

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 75 KB

english, 2015

17

Program and Abstracts for the SIMD Annual Meeting

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.57 MB

english, 2015

18

Corrigendum to “Risk factors for developing mineral bone disease in phenylketonuric patients” [Mol. Genet. Metab. 108 (2013) 149–154]

Mirás, Alicia, Dolores Bóveda, M., Leis, María R., Mera, Antonio, Aldámiz-Echevarría, Luís, Fernández-Lorenzo, José R., Fraga, José M., Couce, María L.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 118 KB

english, 2015

19

Corrigendum to “Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU” [Mol. Genet. Metab. 109 (2013) 331–338]

Aldámiz-Echevarría, Luis, Bueno, María A., Couce, María L., Lage, Sergio, Dalmau, Jaime, Vitoria, Isidro, Andrade, Fernando, Llarena, Marta, Blasco, Javier, Alcalde, Carlos, Gil, David, García, María

Journal:

Molecular Genetics and Metabolism

Year:

2015

File:

PDF, 122 KB

2015

20

Corrigendum to “A glimpse into past, present, and future DNA sequencing” [Mol. Genet. Metab. 110 (2013) 3–24]

Morey, Marcos, Fernández-Marmiesse, Ana, Castiñeiras, Daisy, Fraga, José M., Couce, María L., Cocho, José A.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 115 KB

english, 2015

21

Corrigendum to “Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening” [Mol. Genet. Metab. 110 (2013) 218–221]

Couce, María L., Dolores Bóveda, M., García-Jimémez, Concepción, Balmaseda, Elena, Vives, Inmaculada, Castiñeiras, Daisy E., Fernández-Marmiesse, Ana, Fraga, José M., Mudd, S. Harvey, Corrales, Fernan

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 118 KB

english, 2015

22

Volume 114; Issue 3

A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria

Targeting novel signaling pathways for resistant acute myeloid leukemia

An audit of newborn screening procedure: Impact on infants presenting clinically before results are available

Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome

Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans

Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features

Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride

Why screen newborns for profound and partial biotinidase deficiency?

Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation

Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

Hyperphenylalaninemia and the genomic revolution

Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

Abstract Index

Editorial Board

Program and Abstracts for the SIMD Annual Meeting

Corrigendum to “Risk factors for developing mineral bone disease in phenylketonuric patients” [Mol. Genet. Metab. 108 (2013) 149–154]

Corrigendum to “Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU” [Mol. Genet. Metab. 109 (2013) 331–338]

Corrigendum to “A glimpse into past, present, and future DNA sequencing” [Mol. Genet. Metab. 110 (2013) 3–24]

Corrigendum to “Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening” [Mol. Genet. Metab. 110 (2013) 218–221]

Table of Contents