PMC Articles for MedGen (Select 463405) - PMC

Select item 87483401.

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family

Muhammad Muzammal, Muhammad Zeeshan Ali, Beatrice Brugger, Jasmin Blatterer, Safeer Ahmad, Sundas Taj, Syed Khizar Shah, Saadullah Khan, Christian Enzinger, Erwin Petek, Klaus Wagner, Muzammil Ahmad Khan, Christian Windpassinger

Metab Brain Dis. 2022; 37(1): 243–252. Published online 2021 Nov 1. doi: 10.1007/s11011-021-00832-2

PMCID:: PMC8748340

Article PDF–2.1M

Select item 81472962.

L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria

Matthias Christen, Nils Janzen, Anne Fraser, Adrian C. Sewell, Vidhya Jagannathan, Julien Guevar, Tosso Leeb, Daniel Sanchez-Masian

Genes (Basel) 2021 May; 12(5): 682. Published online 2021 May 1. doi: 10.3390/genes12050682

PMCID:: PMC8147296

Article PDF–1.0M

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

Article PDF–788K

Select item 70416314.

Inborn errors of metabolite repair

Maria Veiga‐da‐Cunha, Emile Van Schaftingen, Guido T. Bommer

J Inherit Metab Dis. 2020 Jan; 43(1): 14–24. Published online 2019 Dec 29. doi: 10.1002/jimd.12187

PMCID:: PMC7041631

Article PDF–1.9M

Select item 66193645.

D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants

Ana Pop, Eduard A. Struys, Erwin E. W. Jansen, Matilde R. Fernandez, Warsha A. Kanhai, Silvy J. M. van Dooren, Senay Ozturk, Justin van Oostendorp, Pascal Lennertz, Martijn Kranendijk, Marjo S. van der Knaap, K. Michael Gibson, Emile van Schaftingen, Gajja S. Salomons

Hum Mutat. 2019 Jul; 40(7): 975–982. Published online 2019 Apr 13. doi: 10.1002/humu.23751

PMCID:: PMC6619364

Article PDF–1.5M

Select item 61378686.

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

Article PDF–937K

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