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Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases. [electronic resource] by
- Yamada, Kenji
- Kobayashi, Hironori
- Bo, Ryosuke
- Takahashi, Tomoo
- Purevsuren, Jamiyan
- Hasegawa, Yuki
- Taketani, Takeshi
- Fukuda, Seiji
- Ohkubo, Takuya
- Yokota, Takanori
- Watanabe, Mutsufusa
- Tsunemi, Taiji
- Mizusawa, Hidehiro
- Takuma, Hiroshi
- Shioya, Ayako
- Ishii, Akiko
- Tamaoka, Akira
- Shigematsu, Yosuke
- Sugie, Hideo
- Yamaguchi, Seiji
Producer: 20161213
In:
Brain & development vol. 38
Availability: No items available.
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A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene. [electronic resource] by
- Chautard, Robin
- Laroche-Raynaud, Cécile
- Lia, Anne-Sophie
- Chazelas, Pauline
- Derouault, Paco
- Sturtz, Franck
- Baaj, Yasser
- Veauville-Merllié, Alice
- Acquaviva, Cécile
- Favreau, Frédéric
- Faye, Pierre-Antoine
Producer: 20201216
In:
BMC medical genomics vol. 13
Availability: No items available.
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Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. [electronic resource] by
- van Rijt, Willemijn J
- Jager, Emmalie A
- Allersma, Derk P
- Aktuğlu Zeybek, A Çiğdem
- Bhattacharya, Kaustuv
- Debray, François-Guillaume
- Ellaway, Carolyn J
- Gautschi, Matthias
- Geraghty, Michael T
- Gil-Ortega, David
- Larson, Austin A
- Moore, Francesca
- Morava, Eva
- Morris, Andrew A
- Oishi, Kimihiko
- Schiff, Manuel
- Scholl-Bürgi, Sabine
- Tchan, Michel C
- Vockley, Jerry
- Witters, Peter
- Wortmann, Saskia B
- van Spronsen, Francjan
- Van Hove, Johan L K
- Derks, Terry G J
Producer: 20210427
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 22
Availability: No items available.
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