Full text in PMC (nucleotide) for Gene (Select 314196) - PMC

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Items: 5

Select item 60748601.

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds

Muhammad Faiyaz-Ul-Haque, Moeenaldeen D. Al-Sayed, Eissa Faqeih, Masood Jamil, Anjum Saeed, Mohamed Saleh Amoudi, Namik Kaya, Halah Abalkhail, Ahmed Al-Abdullatif, Mohamed Rashed, Mohammed Al-Owain, Iskra Peltekova, Syed HE Zaidi

Ann Saudi Med. 2014 Mar-Apr; 34(2): 107–114. doi: 10.5144/0256-4947.2014.107

PMCID:: PMC6074860

Abstract Article PDF–778K

Select item 45149842.

A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study

Hongfei Tai, Zaiqiang Zhang

BMC Neurol. 2015; 15: 117. Published online 2015 Jul 25. doi: 10.1186/s12883-015-0369-2

PMCID:: PMC4514984

Abstract Article PDF–1.7M

Select item 44992183.

The effect of a preparation of minerals, vitamins and trace elements on the cardiac gene expression pattern in male diabetic rats

Márta Sárközy, Gergő Szűcs, Márton Pipicz, Ágnes Zvara, Katalin Éder, Veronika Fekete, Csilla Szűcs, Judit Bárkányi, Csaba Csonka, László G. Puskás, Csaba Kónya, Péter Ferdinandy, Tamás Csont

Cardiovasc Diabetol. 2015; 14: 85. Published online 2015 Jun 28. doi: 10.1186/s12933-015-0248-6

PMCID:: PMC4499218

Abstract Article PDF–792K

Select item 43574674.

A Mouse Model of L-2-Hydroxyglutaric Aciduria, a Disorder of Metabolite Repair

Rim Rzem, Younes Achouri, Etienne Marbaix, Olivier Schakman, Elsa Wiame, Sandrine Marie, Philippe Gailly, Marie-Françoise Vincent, Maria Veiga-da-Cunha, Emile Van Schaftingen

PLoS One. 2015; 10(3): e0119540. Published online 2015 Mar 12. doi: 10.1371/journal.pone.0119540

PMCID:: PMC4357467

Abstract Article PDF–20M

Select item 5402775.

Gene and alternative splicing annotation with AIR

Liliana Florea, Valentina Di Francesco, Jason Miller, Russell Turner, Alison Yao, Michael Harris, Brian Walenz, Clark Mobarry, Gennady V. Merkulov, Rosane Charlab, Ian Dew, Zuoming Deng, Sorin Istrail, Peter Li, Granger Sutton

Genome Res. 2005 Jan; 15(1): 54–66. doi: 10.1101/gr.2889405