PubMed for id: 156005

Year	Number of Results
1999	4
2000	6
2001	15
2002	12
2003	10
2004	15
2005	18
2006	12
2007	28
2008	27
2009	23
2010	20
2011	21
2012	12
2013	20
2014	20
2015	20
2016	17
2017	19
2018	22
2019	17
2020	18
2021	16
2022	9
2023	10
2024	3

1

Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8.

Ferrada E, Wiedmer T, Wang WA, Frommelt F, Steurer B, Klimek C, Lindinger S, Osthushenrich T, Garofoli A, Brocchetti S, Bradberry S, Huang J, MacNamara A, Scarabottolo L, Ecker GF, Malarstig A, Superti-Furga G. Ferrada E, et al. J Mol Biol. 2024 Jan 15;436(2):168383. doi: 10.1016/j.jmb.2023.168383. Epub 2023 Dec 7. J Mol Biol. 2024. PMID: 38070861 Free article.

2

Structure and biochemical characterization of l-2-hydroxyglutarate dehydrogenase and its role in the pathogenesis of l-2-hydroxyglutaric aciduria.

Yang J, Chen X, Jin S, Ding J. Yang J, et al. J Biol Chem. 2024 Jan;300(1):105491. doi: 10.1016/j.jbc.2023.105491. Epub 2023 Nov 22. J Biol Chem. 2024. PMID: 37995940 Free PMC article.

3

Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.

Abdennadher M, Inati SK, Rahhal S, Khan O, Bartolini L, Thurm A, Theodore W, Miller JS, Porter FD, Bianconi S. Abdennadher M, et al. Am J Med Genet A. 2024 Feb;194(2):337-345. doi: 10.1002/ajmg.a.63418. Epub 2023 Oct 18. Am J Med Genet A. 2024. PMID: 37850681

4

X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.

Mejdahl Nielsen M, Petersen ET, Fenger CD, Ørngreen MC, Siebner HR, Boer VO, Považan M, Lund A, Grønborg SW, Hammer TB. Mejdahl Nielsen M, et al. Mol Genet Metab. 2023 Nov;140(3):107694. doi: 10.1016/j.ymgme.2023.107694. Epub 2023 Aug 30. Mol Genet Metab. 2023. PMID: 37708665 Free article. Review.

5

Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.

Bellad A, Holla VV, Kumari R, Kamble N, Yadav R, Pandey A, Pal PK, Muthusamy B. Bellad A, et al. Acta Neurol Belg. 2023 Dec;123(6):2315-2323. doi: 10.1007/s13760-023-02318-7. Epub 2023 Jun 28. Acta Neurol Belg. 2023. PMID: 37378753

6

An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant.

Kashima DT, Sloan-Heggen CM, Gottlieb-Smith RJ, Barone Pritchard A. Kashima DT, et al. Am J Med Genet A. 2023 Jun;191(6):1614-1618. doi: 10.1002/ajmg.a.63176. Epub 2023 Mar 9. Am J Med Genet A. 2023. PMID: 36891747

7

Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency.

Ghirardini E, Sagona G, Marquez-Galera A, Calugi F, Navarron CM, Cacciante F, Chen S, Di Vetta F, Dadà L, Mazziotti R, Lupori L, Putignano E, Baldi P, Lopez-Atalaya JP, Pizzorusso T, Baroncelli L. Ghirardini E, et al. Acta Neuropathol Commun. 2023 Mar 7;11(1):34. doi: 10.1186/s40478-023-01533-w. Acta Neuropathol Commun. 2023. PMID: 36882863 Free PMC article.

8

A novel missense variant in the L2HGDH gene in a cat with L-2-hydroxyglutaric aciduria and multicystic cerebral lesions.

Christen M, Gonzalo-Nadal V, Kaczmarska A, Dyrka M, Guevar J, Jagannathan V, Leeb T, Gutierrez-Quintana R. Christen M, et al. J Vet Intern Med. 2023 Mar;37(2):676-680. doi: 10.1111/jvim.16675. Epub 2023 Mar 7. J Vet Intern Med. 2023. PMID: 36880414 Free PMC article.

9

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder.

Tise CG, Palma MJ, Cusmano-Ozog KP, Matalon DR. Tise CG, et al. J Investig Med High Impact Case Rep. 2023 Jan-Dec;11:23247096231154438. doi: 10.1177/23247096231154438. J Investig Med High Impact Case Rep. 2023. PMID: 36752093 Free PMC article.

10

A novel homozygous missense mutation in L-2-HGA gene: A case report.

Liu Y, Wu Z, Wang W, Han H, Wang Y, Wang T. Liu Y, et al. Clin Neurol Neurosurg. 2023 Feb;225:107529. doi: 10.1016/j.clineuro.2022.107529. Epub 2022 Dec 2. Clin Neurol Neurosurg. 2023. PMID: 36610237

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