Volume 119; Issue 1-2

Molecular Genetics and Metabolism

Volume 119; Issue 1-2

1

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

Sass, Jörn Oliver, Gemperle-Britschgi, Corinne, Tarailo-Graovac, Maja, Patel, Nisha, Walter, Melanie, Jordanova, Albena, Alfadhel, Majid, Barić, Ivo, Çoker, Mahmut, Damli-Huber, Aynur, Faqeih, Eissa A

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 297 KB

english, 2016

2

Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions

Davis, Margaret R., Arner, Erik, Duffy, Cairnan R.E., De Sousa, Paul A., Dahlman, Ingrid, Arner, Peter, Summers, Kim M.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 1.83 MB

english, 2016

3

Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria

Cudré-Cung, Hong-Phuc, Zavadakova, Petra, do Vale-Pereira, Sónia, Remacle, Noémie, Henry, Hugues, Ivanisevic, Julijana, Tavel, Denise, Braissant, Olivier, Ballhausen, Diana

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 1.52 MB

english, 2016

4

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

Hendriksz, Christian J., Parini, Rossella, AlSayed, Moeenaldeen D., Raiman, Julian, Giugliani, Roberto, Solano Villarreal, Martha L., Mitchell, John J., Burton, Barbara K., Guelbert, Norberto, Stewart

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 1.10 MB

english, 2016

5

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 31 KB

english, 2016

6

Table of Contents

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 105 KB

english, 2016

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