PubMed for id: 433425

Year	Number of Results
2001	1
2002	1
2005	3
2006	1
2007	1
2008	5
2009	5
2010	3
2011	2
2012	6
2013	5
2014	6
2015	1
2016	2
2017	2
2018	3
2019	5
2020	2
2021	6
2022	3
2023	0

1

The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.

Doğulu N, Tuna Kırsaçlıoğlu C, Köse E, Ünlüsoy Aksu A, Kuloğlu Z, Kansu A, Eminoğlu FT. Doğulu N, et al. J Pediatr Endocrinol Metab. 2021 Jun 28;34(10):1341-1347. doi: 10.1515/jpem-2021-0108. Print 2021 Oct 26. J Pediatr Endocrinol Metab. 2021. PMID: 34167177

2

Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.

Waich S, Roscher A, Brunner-Krainz M, Cortina G, Köstl G, Feichtinger RG, Entenmann A, Müller T, Knisely AS, Mayr JA, Janecke AR, Vodopiutz J. Waich S, et al. J Pediatr Gastroenterol Nutr. 2019 Jan;68(1):e1-e6. doi: 10.1097/MPG.0000000000002149. J Pediatr Gastroenterol Nutr. 2019. PMID: 30589726

3

Deoxyguanosine kinase deficiency: a report of four patients.

Ünal Ö, Hişmi B, Kılıç M, Gülşen HH, Coşkun T, Sivri SH, Dursun A, Yüce A, Tokatlı A. Ünal Ö, et al. J Pediatr Endocrinol Metab. 2017 May 24;30(6):697-702. doi: 10.1515/jpem-2016-0268. J Pediatr Endocrinol Metab. 2017. PMID: 28493820

4

Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.

Grabhorn E, Tsiakas K, Herden U, Fischer L, Freisinger P, Marquardt T, Ganschow R, Briem-Richter A, Santer R. Grabhorn E, et al. Liver Transpl. 2014 Apr;20(4):464-72. doi: 10.1002/lt.23830. Epub 2014 Feb 25. Liver Transpl. 2014. PMID: 24478274 Free article. Review.

5

Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.

Buchaklian AH, Helbling D, Ware SM, Dimmock DP. Buchaklian AH, et al. Mol Genet Metab. 2012 Sep;107(1-2):92-4. doi: 10.1016/j.ymgme.2012.04.019. Epub 2012 Apr 26. Mol Genet Metab. 2012. PMID: 22622127

6

Neonatal liver failure due to deoxyguanosine kinase deficiency.

Nobre S, Grazina M, Silva F, Pinto C, Gonçalves I, Diogo L. Nobre S, et al. BMJ Case Rep. 2012 Apr 2;2012:bcr1220115317. doi: 10.1136/bcr.12.2011.5317. BMJ Case Rep. 2012. PMID: 22602837 Free PMC article.

7

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.

Hanchard NA, Shchelochkov OA, Roy A, Wiszniewska J, Wang J, Popek EJ, Karpen S, Wong LJ, Scaglia F. Hanchard NA, et al. Mol Genet Metab. 2011 Jul;103(3):262-7. doi: 10.1016/j.ymgme.2011.03.006. Epub 2011 Mar 11. Mol Genet Metab. 2011. PMID: 21478040

8

Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency.

Dimmock DP, Dunn JK, Feigenbaum A, Rupar A, Horvath R, Freisinger P, Mousson de Camaret B, Wong LJ, Scaglia F. Dimmock DP, et al. Liver Transpl. 2008 Oct;14(10):1480-5. doi: 10.1002/lt.21556. Liver Transpl. 2008. PMID: 18825706 Free article.

9

Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency.

Saada A. Saada A. Mol Genet Metab. 2008 Nov;95(3):169-73. doi: 10.1016/j.ymgme.2008.07.007. Epub 2008 Aug 23. Mol Genet Metab. 2008. PMID: 18723380

10

Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency.

Labarthe F, Dobbelaere D, Devisme L, De Muret A, Jardel C, Taanman JW, Gottrand F, Lombès A. Labarthe F, et al. J Hepatol. 2005 Aug;43(2):333-41. doi: 10.1016/j.jhep.2005.03.023. J Hepatol. 2005. PMID: 15964659

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