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The lysine catabolite saccharopine impairs development by disrupting mitochondrial homeostasis. [electronic resource] by
- Zhou, Junxiang
- Wang, Xin
- Wang, Min
- Chang, Yuwei
- Zhang, Fengxia
- Ban, Zhaonan
- Tang, Ruofeng
- Gan, Qiwen
- Wu, Shaohuan
- Guo, Ye
- Zhang, Qian
- Wang, Fengyang
- Zhao, Liyuan
- Jing, Yudong
- Qian, Wenfeng
- Wang, Guodong
- Guo, Weixiang
- Yang, Chonglin
Producer: 20191210
In:
The Journal of cell biology vol. 218
Availability: No items available.
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Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. [electronic resource] by
- Tondo, Mireia
- Calpena, Eduardo
- Arriola, Gema
- Sanz, Paloma
- Martorell, Loreto
- Ormazabal, Aida
- Castejon, Esperanza
- Palacin, Manuel
- Ugarte, Magdalena
- Espinos, Carmen
- Perez, Belen
- Perez-Dueñas, Belen
- Pérez-Cerda, Celia
- Artuch, Rafael
Producer: 20140508
In:
Molecular genetics and metabolism vol. 110
Availability: No items available.
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Genetic basis of hyperlysinemia. [electronic resource] by
- Houten, Sander M
- Te Brinke, Heleen
- Denis, Simone
- Ruiter, Jos Pn
- Knegt, Alida C
- de Klerk, Johannis Bc
- Augoustides-Savvopoulou, Persephone
- Häberle, Johannes
- Baumgartner, Matthias R
- Coşkun, Turgay
- Zschocke, Johannes
- Sass, Jörn Oliver
- Poll-The, Bwee Tien
- Wanders, Ronald Ja
- Duran, Marinus
Producer: 20130723
In:
Orphanet journal of rare diseases vol. 8
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Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. [electronic resource] by
- Houten, Sander M
- Denis, Simone
- Te Brinke, Heleen
- Jongejan, Aldo
- van Kampen, Antoine H C
- Bradley, Edward J
- Baas, Frank
- Hennekam, Raoul C M
- Millington, David S
- Young, Sarah P
- Frazier, Dianne M
- Gucsavas-Calikoglu, Muge
- Wanders, Ronald J A
Producer: 20150423
In:
Human molecular genetics vol. 23
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Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. [electronic resource] by
- Pérez, Belén
- Gutiérrez-Solana, Luis González
- Verdú, Alfonso
- Merinero, Begoña
- Yuste-Checa, Patricia
- Ruiz-Sala, Pedro
- Calvo, Rocio
- Jalan, Anil
- Marín, Laura López
- Campos, Oscar
- Ruiz, Maria Ángeles
- San Miguel, Marta
- Vázquez, Maria
- Castro, Margarita
- Ferrer, Isaac
- Navarrete, Rosa
- Desviat, Lourdes Ruiz
- Lapunzina, Pablo
- Ugarte, Magdalena
- Pérez-Cerdá, Celia
Producer: 20130402
In:
Epilepsia vol. 54
Availability: No items available.
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