PubMed for id: 462408

Year	Number of Results
1974	1
1980	1
1981	1
1985	2
1988	1
1990	1
1995	2
1996	1
1997	3
1998	1
2000	3
2001	2
2003	1
2004	2
2005	2
2006	2
2008	2
2009	1
2010	2
2011	4
2012	3
2013	4
2014	3
2015	4
2016	3
2017	3
2018	2
2019	4
2020	10
2021	2
2022	7
2023	1
2024	0

1

Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology.

Petković Ramadža D, Kuhtić I, Žarković K, Lochmüller H, Čavka M, Kovač I, Barić I, Prutki M. Petković Ramadža D, et al. Front Pediatr. 2022 Apr 8;10:847445. doi: 10.3389/fped.2022.847445. eCollection 2022. Front Pediatr. 2022. PMID: 35463910 Free PMC article.

2

Epigenetic Upregulation of H19 and AMPK Inhibition Concurrently Contribute to S-Adenosylhomocysteine Hydrolase Deficiency-Promoted Atherosclerotic Calcification.

Dai X, Liu S, Cheng L, Huang T, Guo H, Wang D, Xia M, Ling W, Xiao Y. Dai X, et al. Circ Res. 2022 May 13;130(10):1565-1582. doi: 10.1161/CIRCRESAHA.121.320251. Epub 2022 Apr 12. Circ Res. 2022. PMID: 35410483

3

Anesthetic Management of a Patient With S-Adenosylhomocysteine Hydrolase Deficiency: A Case Report.

Van Gorkom CR, Black ED, Karlik JB. Van Gorkom CR, et al. A A Pract. 2022 Apr 8;16(4):e01578. doi: 10.1213/XAA.0000000000001578. A A Pract. 2022. PMID: 35394939

4

Betaine Supplementation Attenuates S-Adenosylhomocysteine Hydrolase-Deficiency-Accelerated Atherosclerosis in Apolipoprotein E-Deficient Mice.

Dai X, Liu S, Cheng L, Huang T, Guo H, Wang D, Xia M, Ling W, Xiao Y. Dai X, et al. Nutrients. 2022 Feb 8;14(3):718. doi: 10.3390/nu14030718. Nutrients. 2022. PMID: 35277077 Free PMC article.

5

CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.

Grudzinska Pechhacker MK, Di Scipio M, Vig A, Tumber A, Roslin N, Tavares E, Vincent A, Hèon E. Grudzinska Pechhacker MK, et al. Ophthalmic Genet. 2020 Oct;41(5):457-464. doi: 10.1080/13816810.2020.1790013. Epub 2020 Jul 20. Ophthalmic Genet. 2020. PMID: 32689861

6

A Turkish patient with novel AHCY variants and presumed diagnosis of S-adenosylhomocysteine hydrolase deficiency.

Bas H, Cilingir O, Tekin N, Saylisoy S, Durak Aras B, Uzay E, Erzurumluoglu Gokalp E, Artan S. Bas H, et al. Am J Med Genet A. 2020 Apr;182(4):740-745. doi: 10.1002/ajmg.a.61489. Epub 2020 Jan 20. Am J Med Genet A. 2020. PMID: 31957987

7

S-Adenosylmethionine Promotes Oxidative Stress and Decreases Na⁺, K⁺-ATPase Activity in Cerebral Cortex Supernatants of Adolescent Rats: Implications for the Pathogenesis of S-Adenosylhomocysteine Hydrolase Deficiency.

Zanatta Â, Cecatto C, Ribeiro RT, Amaral AU, Wyse AT, Leipnitz G, Wajner M. Zanatta Â, et al. Mol Neurobiol. 2018 Jul;55(7):5868-5878. doi: 10.1007/s12035-017-0804-z. Epub 2017 Nov 3. Mol Neurobiol. 2018. PMID: 29101646

8

Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency.

Stender S, Chakrabarti RS, Xing C, Gotway G, Cohen JC, Hobbs HH. Stender S, et al. Mol Genet Metab. 2015 Dec;116(4):269-74. doi: 10.1016/j.ymgme.2015.10.009. Epub 2015 Oct 26. Mol Genet Metab. 2015. PMID: 26527160 Free PMC article.

9

Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.

Strauss KA, Ferreira C, Bottiglieri T, Zhao X, Arning E, Zhang S, Zeisel SH, Escolar ML, Presnick N, Puffenberger EG, Vugrek O, Kovacevic L, Wagner C, Mazariegos GV, Mudd SH, Soltys K. Strauss KA, et al. Mol Genet Metab. 2015 Sep-Oct;116(1-2):44-52. doi: 10.1016/j.ymgme.2015.06.005. Epub 2015 Jun 19. Mol Genet Metab. 2015. PMID: 26095522

10

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

Honzík T, Magner M, Krijt J, Sokolová J, Vugrek O, Belužić R, Barić I, Hansíkova H, Elleder M, Veselá K, Bauerová L, Ondrušková N, Ješina P, Zeman J, Kožich V. Honzík T, et al. Mol Genet Metab. 2012 Nov;107(3):611-3. doi: 10.1016/j.ymgme.2012.08.014. Epub 2012 Aug 23. Mol Genet Metab. 2012. PMID: 22959829

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