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1261.
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1262.
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1263.
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Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. [electronic resource] by
- van Karnebeek, Clara D
- Sly, William S
- Ross, Colin J
- Salvarinova, Ramona
- Yaplito-Lee, Joy
- Santra, Saikat
- Shyr, Casper
- Horvath, Gabriella A
- Eydoux, Patrice
- Lehman, Anna M
- Bernard, Virginie
- Newlove, Theresa
- Ukpeh, Henry
- Chakrapani, Anupam
- Preece, Mary Anne
- Ball, Sarah
- Pitt, James
- Vallance, Hilary D
- Coulter-Mackie, Marion
- Nguyen, Hien
- Zhang, Lin-Hua
- Bhavsar, Amit P
- Sinclair, Graham
- Waheed, Abdul
- Wasserman, Wyeth W
- Stockler-Ipsiroglu, Sylvia
Producer: 20140501
In:
American journal of human genetics vol. 94
Availability: No items available.
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1264.
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1265.
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Prenatal treatment of ornithine transcarbamylase deficiency. [electronic resource] by
- Wilnai, Yael
- Blumenfeld, Yair J
- Cusmano, Kristina
- Hintz, Susan R
- Alcorn, Deborah
- Benitz, William E
- Berquist, William E
- Bernstein, Jonathan A
- Castillo, Ricardo O
- Concepcion, Waldo
- Cowan, Tina M
- Cox, Kenneth L
- Lyell, Deirdre J
- Esquivel, Carlos O
- Homeyer, Margaret
- Hudgins, Louanne
- Hurwitz, Melissa
- Palma, Jonathan P
- Schelley, Susan
- Akula, Vishnu Priya
- Summar, Marshall L
- Enns, Gregory M
Producer: 20190205
In:
Molecular genetics and metabolism vol. 123
Availability: No items available.
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1266.
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Sustained hyperammonemia induces TNF-a IN Purkinje neurons by activating the TNFR1-NF-κB pathway. [electronic resource] by
- Balzano, Tiziano
- Arenas, Yaiza M
- Dadsetan, Sherry
- Forteza, Jerónimo
- Gil-Perotin, Sara
- Cubas-Nuñez, Laura
- Casanova, Bonaventura
- Gracià, Francisco
- Varela-Andrés, Natalia
- Montoliu, Carmina
- Llansola, Marta
- Felipo, Vicente
Producer: 20201207
In:
Journal of neuroinflammation vol. 17
Availability: No items available.
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1267.
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1268.
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1276.
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1277.
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Influence of glutamine synthetase gene polymorphisms on the development of hyperammonemia during valproic acid-based therapy. [electronic resource] by
- Inoue, Kazuyuki
- Takahashi, Toshiki
- Yamamoto, Yoshiaki
- Suzuki, Eri
- Takahashi, Yukitoshi
- Imai, Katsumi
- Inoue, Yushi
- Hirai, Keita
- Tsuji, Daiki
- Itoh, Kunihiko
Producer: 20160928
In:
Seizure vol. 33
Availability: No items available.
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