Volume 2

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Molecular Genetics and Metabolism Reports
Volume 2

Molecular Genetics and Metabolism Reports

Volume 2

1

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

Sperb-Ludwig, F., Alegra, T., Velho, R.V., Ludwig, N., Kim, C.A., Kok, F., Kitajima, J.P., van Meel, E., Kornfeld, S., Burin, M.G., Schwartz, I.V.D.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 393 KB

english, 2015

2

When should social service referral be considered in phenylketonuria?

van Rijn, Margreet, Ahring, Kirsten, Bélanger-Quintana, Amaya, Dokoupil, Kathi, Ozel, Hulya Gokmen, Lammardo, Anna Maria, Robert, Martine, Rocha, Júlio C., MacDonald, Anita

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 213 KB

english, 2015

3

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations

Ritelli, Marco, Chiarelli, Nicola, Zoppi, Nicoletta, Dordoni, Chiara, Quinzani, Stefano, Traversa, Michele, Venturini, Marina, Calzavara-Pinton, Piergiacomo, Colombi, Marina

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 2.35 MB

english, 2015

4

Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature

Carpentieri, David, Barnhart, Margaret F., Aleck, Kyrieckos, Miloh, Tamir, deMello, Daphne

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 618 KB

english, 2015

5

Obstetric risk in patients with myopathy due to MATR3 mutations

Mueller, T., Berndt, J., Hanisch, F.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 151 KB

english, 2015

6

Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease

Cocanougher, Benjamin, Aypar, Umut, McDonald, Amber, Hasadsri, Linda, Bennett, Michael J., Edward Highsmith, W., D'Aco, Kristin

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 688 KB

english, 2015

7

ALG11-CDG: Three novel mutations and further characterization of the phenotype

Regal, L., van Hasselt, P.M., Foulquier, F., Cuppen, I., Prinsen, HCMT, Jansen, K., Keldermans, L., De Meirleir, L., Matthijs, G., Jaeken, J.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 294 KB

english, 2015

8

Long-term follow-up of post hematopoietic stem cell transplantation for Hurler syndrome: Clinical, biochemical, and pathological improvements

Yasuda, Eriko, Mackenzie, William G., Ruhnke, Kristen D., Shimada, Tsutomu, Mason, Robert W., Zustin, Jozef, Martin, Paul L., Thacker, Mihir M., Orii, Tadao, Sai, Yoshimichi, Tomatsu, Shunji

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 2.50 MB

english, 2015

9

Successful reduction of high-sustained anti-idursulfase antibody titers by immune modulation therapy in a patient with severe mucopolysaccharidosis type II

Kim, Katherine H., Messinger, Yoav H., Burton, Barbara K.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 615 KB

english, 2015

10

Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis

Habarou, F., Brassier, A., Rio, M., Chrétien, D., Monnot, S., Barbier, V., Barouki, R., Bonnefont, J.P., Boddaert, N., Chadefaux-Vekemans, B., Le Moyec, L., Bastin, J., Ottolenghi, C., de Lonlay, P.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 557 KB

english, 2015

11

Stormorken syndrome or York platelet syndrome: A clinician's dilemma

Singh, Amrathlal Rabbind, Morin, Gilles, Rochette, Jacques

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 143 KB

english, 2015

12

First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children

Senanayake, Danika Nadeen, Jasinge, Eresha. A., Pindolia, Kirit, Wanigasinghe, Jithangi, Monaghan, Kristin, Suchy, Sharon F., Wei, Sainan, Jaysena, Subashini, Wolf, Barry

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 424 KB

english, 2015

13

Effects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activity

Tsuchida, Shirou, Osaka, Akihiro, Abe, Yuya, Hamaue, Naoya, Aoki, Takashi

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 592 KB

english, 2015

14

Serum β2-microglobulin is frequently elevated in type 1 Gaucher patients

Koppe, Tiago, Vairo, Filippo, Camargo, Matheus, Paskulin, Livia, Daudt, Liane, Schwartz, Ida V.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 232 KB

english, 2015

15

Corrective effects of hepatotoxicity by hepatic Dyrk1a gene delivery in mice with intermediate hyperhomocysteinemia

Latour, Alizée, Salameh, Sacha, Carbonne, Christel, Daubigney, Fabrice, Paul, Jean-Louis, Kergoat, Micheline, Autier, Valérie, Delabar, Jean-Maurice, De Geest, Bart, Janel, Nathalie

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 1.16 MB

english, 2015

16

Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C

Dvorakova, Veronika, Magner, Martin, Honzik, Tomas

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 148 KB

english, 2015

17

Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran

Setoodeh, Aria, Yarali, Bahram, Rabbani, Ali, Khatami, Shohreh, Shams, Sedigheh

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 310 KB

english, 2015