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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 34614392.

A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria

Fabiana HG Farias, Rong Zeng, Gary S Johnson, G D Shelton, Dominique Paquette, Dennis P O’Brien

BMC Vet Res. 2012; 8: 124. Published online 2012 Jul 26. doi: 10.1186/1746-6148-8-124

PMCID:: PMC3461439

Abstract Article PDF–468K

Select item 73592813.

A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants

Wenhui Li, Min Zhang, Linmei Zhang, Yiyun Shi, Lei Zhao, Bingbing Wu, Xihua Li, Shuizhen Zhou

BMC Neurol. 2020; 20: 278. Published online 2020 Jul 13. doi: 10.1186/s12883-020-01854-6

PMCID:: PMC7359281

Abstract Article PDF–788K

Select item 69566394.

A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria

Dr. A Olgac, Orgun L Tekin, FS Ezgü, G Biberoǧlu, L Tümer

Balkan J Med Genet. 2019 Dec; 22(2): 93–96. Published online 2019 Dec 21. doi: 10.2478/bjmg-2019-0015

PMCID:: PMC6956639

Abstract Article PDF–301K

Select item 36173905.

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

Benjamin Nota, Eduard A. Struys, Ana Pop, Erwin E. Jansen, Matilde R. Fernandez Ojeda, Warsha A. Kanhai, Martijn Kranendijk, Silvy J.M. van Dooren, Marianna R. Bevova, Erik A. Sistermans, Aggie W.M. Nieuwint, Magalie Barth, Tawfeg Ben-Omran, Georg F. Hoffmann, Pascale de Lonlay, Marie T. McDonald, Alf Meberg, Ania C. Muntau, Jean-Marc Nuoffer, Rossella Parini, Marie-Hélène Read, Axel Renneberg, René Santer, Thomas Strahleck, Emile van Schaftingen, Marjo S. van der Knaap, Cornelis Jakobs, Gajja S. Salomons

Am J Hum Genet. 2013 Apr 4; 92(4): 627–631. doi: 10.1016/j.ajhg.2013.03.009

PMCID:: PMC3617390

Abstract Article PDF–293K

Select item 37029016.

l-2 Hydroxyglutaric aciduria presenting with anxiety symptoms

Cem Gökçen, Sedat Işikay, Kutluhan Yilmaz

BMJ Case Rep. 2013; 2013: bcr2013009512. Published online 2013 Jun 6. doi: 10.1136/bcr-2013-009512

PMCID:: PMC3702901

Abstract Article PDF–183K

Select item 63230207.

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation

Anja von Renesse, Susanne Morales-Gonzalez, Esther Gill, Gajja S. Salomons, Werner Stenzel, Markus Schuelke

JIMD Rep. 2019; 43: 27–35. Published online 2018 Apr 14. doi: 10.1007/8904_2018_93

PMCID:: PMC6323020

Abstract Article PDF–1.0M

Select item 61770128.

A Drosophila model of combined D-2- and L-2-hydroxyglutaric aciduria reveals a mechanism linking mitochondrial citrate export with oncometabolite accumulation

Hongde Li, Alexander J. Hurlburt, Jason M. Tennessen

Dis Model Mech. 2018 Sep 1; 11(9): dmm035337. Published online 2018 Sep 21. doi: 10.1242/dmm.035337

PMCID:: PMC6177012

Abstract Article

Select item 61378689.

Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria

Wei Peng, Xiu-Wei Ma, Xiao Yang, Wan-Qiao Zhang, Lei Yan, Yong-Xia Wang, Xin Liu, Yan Wang, Zhi-Chun Feng

BMC Med Genet. 2018; 19: 167. Published online 2018 Sep 14. doi: 10.1186/s12881-018-0675-9

PMCID:: PMC6137868

Abstract Article PDF–937K

Select item 731358610.

Classic Imaging Features of L-2-Hydroxyglutaric Aciduria in Young Adult Presenting as Seizures Associated with Fever

Suresh Kumar, Shikha Bhatia, Mukesh Surya, Sanjiv Sharma

Ann Indian Acad Neurol. 2020 May-Jun; 23(3): 352–354. Published online 2020 Jun 10. doi: 10.4103/aian.AIAN_385_18

PMCID:: PMC7313586

Abstract Article PDF–680K

Select item 370294011.

L-2 Hydroxyglutaric aciduria presenting with status epilepticus

Sedat Işikay

BMJ Case Rep. 2013; 2013: bcr2013010164. Published online 2013 Jun 7. doi: 10.1136/bcr-2013-010164

PMCID:: PMC3702940

Abstract Article PDF–123K

Select item 583047812.

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

Ana Pop, Monique Williams, Eduard A. Struys, Magnus Monné, Erwin E. W. Jansen, Anna De Grassi, Warsha A. Kanhai, Pasquale Scarcia, Matilde R. Fernandez Ojeda, Vito Porcelli, Silvy J. M. van Dooren, Pascal Lennertz, Benjamin Nota, Jose E. Abdenur, David Coman, Anibh Martin Das, Areeg El-Gharbawy, Jean-Marc Nuoffer, Branka Polic, René Santer, Natalie Weinhold, Britton Zuccarelli, Ferdinando Palmieri, Luigi Palmieri, Gajja S. Salomons

J Inherit Metab Dis. 2018; 41(2): 169–180. Published online 2017 Dec 13. doi: 10.1007/s10545-017-0106-7

PMCID:: PMC5830478

Abstract Article PDF–2.1M

Select item 399278213.

An interesting case of metabolic dystonia: L-2 hydroxyglutaric aciduria

Padma Balaji, V. Viswanathan, Amarnath Chellathurai, Debasis Panigrahi

Ann Indian Acad Neurol. 2014 Jan-Mar; 17(1): 97–99. doi: 10.4103/0972-2327.128565

PMCID:: PMC3992782

Abstract Article PDF–782K

Select item 450123614.

Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria

Pankaj Prasun, Sarah Young, Gajja Salomons, Andrea Werneke, Yong-hui Jiang, Eduard Struys, Mikell Paige, Maria Laura Avantaggiati, Marie McDonald

JIMD Rep. 2015; 19: 111–115. Published online 2015 Jan 23. doi: 10.1007/8904_2014_378

PMCID:: PMC4501236

Abstract Article PDF–144K

Select item 451498415.

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 465772816.

Successive Distinct High-Grade Gliomas in L-2-hydroxyglutaric Aciduria

Zoltan Patay, Brent A. Orr, Barry L. Shulkin, Scott N. Hwang, Yuan Ying, Alberto Broniscer, Frederick A. Boop, David W. Ellison M.D.

J Inherit Metab Dis. Author manuscript; available in PMC 2016 Mar 1.

Published in final edited form as: J Inherit Metab Dis. 2015 Mar; 38(2): 273–277. Published online 2014 Oct 23. doi: 10.1007/s10545-014-9782-8

PMCID:: PMC4657728

Abstract Article PDF–1.1M

Select item 471104017.

Writer’s cramp as a presentation of L-2-hydroxyglutaric aciduria

Pichet Termsarasab, Steven J Frucht

J Clin Mov Disord. 2014; 1: 9. Published online 2014 Dec 11. doi: 10.1186/s40734-014-0009-9

PMCID:: PMC4711040

Abstract Article PDF–515K

Select item 796882518.

Cerebral Neoplasms in L-2 Hydroxyglutaric Aciduria: 3 New Cases and Meta-Analysis of Literature Data

Z. Patay, J.C. Mills, U. Löbel, A. Lambert, A. Sablauer, D.W. Ellison

AJNR Am J Neuroradiol. 2012 May; 33(5): 940–943. doi: 10.3174/ajnr.A2869

PMCID:: PMC7968825

Abstract Article PDF–573K

Select item 1107509419.

Malignant glioma in L-2-Hydroxyglutaric Aciduria: thorough molecular characterization of a case and literature review

Fleur Cordier, Pieter Wesseling, Bastiaan B.J. Tops, Lennart Kester, Pim J. French, Martin van den Bent, Felix Hinz, Eleonora Aronica, K. Mariam Slot, Floor Abbink, Marjo S. van der Knaap, Mariëtte E.G. Kranendonk

Free Neuropathol. 2024 Jan; 5: 5-11. Published online 2024 May 3. doi: 10.17879/freeneuropathology-2024-5377

PMCID:: PMC11075094

Abstract Article PDF–1.7M

Select item 1092196020.

L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine

Roberto Leal-Ortega, Luis Enrique Parra-Medina, Lizbeth Josefina González-Herrera

Tremor Other Hyperkinet Mov (N Y) 2024; 14: 12. Published online 2024 Mar 7. doi: 10.5334/tohm.854

PMCID:: PMC10921960

Abstract Article PDF–811K

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