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Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. [electronic resource] by
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- Lin, Jie
- Zhu, Wenhua
- Luo, Sushan
- Zhao, Chongbo
- Li, Duoling
- Lin, Pengfei
- Lu, Jiahong
- Yan, Chuanzhu
Producer: 20150220
In:
Journal of inherited metabolic disease vol. 37
Availability: No items available.
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Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. [electronic resource] by
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- Yonezawa, Atsushi
- Masuda, Satohiro
- Inui, Ken-ichi
- Sim, Keow G
- Carpenter, Kevin
- Olsen, Rikke K J
- Mitchell, John J
- Rhead, William J
- Peters, Gregory
- Christodoulou, John
Producer: 20111219
In:
Human mutation vol. 32
Availability: No items available.
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