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1

Cabiati, Manuela, Raffaele Caruso, Alessandro Verde, Laura Sabatino, Maria-Aurora Morales, and Silvia Del Ry. "Transcriptomic Profiling of the Four Adenosine Receptors in Human Leukocytes of Heart Failure Patients." BioMed Research International 2013 (2013): 1–6. http://dx.doi.org/10.1155/2013/569438.

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In this study the transcriptomic profiling of adenosine receptors (ARs) in human leukocytes of heart failure (HF) patients as a function of clinical severity, assessing the possible changes with respect to healthy subjects (C), was evaluated. Total RNA was extracted from leukocytes ofC(n=8) and of HF patients (NYHA I-IIn=9; NYHA III-IVn=14) with a PAXgene Blood RNA Kit. An increase as a function of clinical severity was observed in each AR (A1R:C=0.02±0.009, NYHAI-II=0.21±0.09, NYHAIII-IV=3.6±1.3,P=0.03 Cversus NYHA III-IV,P=0.02NYHA I-II versus NYHA III-IV; A2aR:C=0.2±0.05, NYHAI-II=0.19±0.04, NYHAIII-IV=1.32±0.33,P=0.005 Cversus NYHA III-IV,P=0.003NYHA I-II versus NYHA III-IV; A2bR:C=1.78±0.36, NYHAI-II=1.35±0.29, NYHAIII-IV=4.07±1.21,P=0.03: NYHA I-II versus NYHA III-IV; A3R:C=0.76±0.21, NYHAI-II=0.94±0.19, NYHAIII-IV=3.14±0.77,P=0.01 Cversus NYHA III-IV and NYHA I-II versus NYHA III-IV, resp.). The mRNA expression of the ectonucleoside triphosphate diphosphohydrolase (CD39) and the ecto-5′-nucleotidase (CD73) were also evaluated. They resulted up-regulated. These findings show that components of adenosine metabolism and signalling are altered to promote adenosine production and signalling in HF patients. Thus, HF may benefit from adenosine-based drug therapy after confirmation by clinical trials.
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2

Kim, Myoung-Gook, Kyu-Ho Yang, Nam-Ki Choi, and Seon-Mi Kim. "LESCH-NYHAN SYNDROME: A CASE REPORT." JOURNAL OF THE KOREAN ACADEMY OF PEDTATRIC DENTISTRY 38, no. 3 (August 31, 2011): 284–89. http://dx.doi.org/10.5933/jkapd.2011.38.3.284.

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3

Millichap, J. Gordon. "Lesch-Nyhan Syndrome." Pediatric Neurology Briefs 2, no. 5 (May 1, 1988): 37. http://dx.doi.org/10.15844/pedneurbriefs-2-5-9.

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4

Nyhan, W. L. "Lesch-Nyhan Disease." Nucleosides, Nucleotides and Nucleic Acids 27, no. 6-7 (July 23, 2008): 559–63. http://dx.doi.org/10.1080/15257770802135745.

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5

Nyhan, William L. "LESCH-Nyhan Disease." Journal of the History of the Neurosciences 14, no. 1 (March 9, 2005): 1–10. http://dx.doi.org/10.1080/096470490512490.

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6

Torres, R. J., and J. G. Puig. "Lesch-Nyhan syndrome." Drugs of the Future 35, no. 5 (2010): 421. http://dx.doi.org/10.1358/dof.2010.035.05.1490758.

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7

Smith, Brian M., Bruce J. Cutilli, and Michael Fedele. "Lesch-Nyhan syndrome." Oral Surgery, Oral Medicine, Oral Pathology 78, no. 3 (September 1994): 317–18. http://dx.doi.org/10.1016/0030-4220(94)90061-2.

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8

Torres, R. J., and J. G. Puig. "Lesch-Nyhan syndrome." Drugs of the Future 35, no. 5 (2010): 421. http://dx.doi.org/10.1358/dof.2010.35.5.1490758.

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9

Holt, Kenneth S. "THE LESCH-NYHAN SYNDROME." Developmental Medicine & Child Neurology 11, no. 3 (November 12, 2008): 382–84. http://dx.doi.org/10.1111/j.1469-8749.1969.tb01452.x.

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10

Pinardi, Beatriz A., Liliana E. Romagnoli, Silvia S. Bonzani, Perla Robert, and Gonzalo J. Ferreyra. "Síndrome de Lesch-Nyhan." Piel 21, no. 9 (November 2006): 459–61. http://dx.doi.org/10.1016/s0213-9251(06)72539-4.

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11

Nyhan, William L. "THE LESCH-NYHAN SYNDROME." Developmental Medicine & Child Neurology 20, no. 3 (November 12, 2008): 376–80. http://dx.doi.org/10.1111/j.1469-8749.1978.tb15228.x.

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12

Nyhan, William L. "Dopamine Function in Lesch-Nyhan Disease." Environmental Health Perspectives 108 (June 2000): 409. http://dx.doi.org/10.2307/3454529.

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13

Juneja, Dinesh, Amina Sultan, Akanksha Juneja, and Maryam Siddiqui. "Lesch Nyhan Syndrome: A Rare Occurrence." Journal of Behavioral Health 8, no. 3 (2019): 122. http://dx.doi.org/10.5455/jbh.20190703095342.

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14

de Antonio García, Isabel, Rosa Torres Jiménez, Alfonso Verdú Pérez, Cármen Prior de Castro, and Juan García Puig. "Tratamiento del síndrome de Lesch-Nyhan." Revista de Neurología 35, no. 09 (2002): 877. http://dx.doi.org/10.33588/rn.3509.2002295.

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15

Millichap, J. Gordon. "Action Dystonia in Lesch-Nyhan Disease." Pediatric Neurology Briefs 20, no. 6 (June 1, 2006): 46. http://dx.doi.org/10.15844/pedneurbriefs-20-6-8.

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16

Millichap, J. Gordon. "Neurological Variants of Lesch-Nyhan Disease." Pediatric Neurology Briefs 24, no. 4 (April 1, 2010): 26. http://dx.doi.org/10.15844/pedneurbriefs-24-4-3.

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17

Millichap, J. Gordon. "Prenatal Diagnosis of Lesch-Nyhan Syndrome." Pediatric Neurology Briefs 9, no. 6 (June 1, 1995): 44. http://dx.doi.org/10.15844/pedneurbriefs-9-6-5.

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18

Jinnah, H. A., I. Ceballos-Picot, R. J. Torres, J. E. Visser, D. J. Schretlen, A. Verdu, L. E. Larovere, et al. "Attenuated variants of Lesch-Nyhan disease." Brain 133, no. 3 (February 22, 2010): 671–89. http://dx.doi.org/10.1093/brain/awq013.

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19

Kostadinov Neychev, Vladimir, and H. A. Jinnah. "Sudden death in Lesch-Nyhan disease." Developmental Medicine & Child Neurology 48, no. 11 (February 13, 2007): 923–26. http://dx.doi.org/10.1111/j.1469-8749.2006.02015a.x.

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20

&NA;. "ATLANTOAXIAL INSTABILITY IN LESCH-NYHAN SYNDROME." Journal of Pediatric Orthopaedics 16, no. 5 (September 1996): 697. http://dx.doi.org/10.1097/01241398-199609000-00076.

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21

Sponseller, Paul D., Nicholas U. Ahn, James C. Choi, and Uri M. Ahn. "Orthopedic Problems in Lesch-Nyhan Syndrome." Journal of Pediatric Orthopaedics 19, no. 5 (September 1999): 596. http://dx.doi.org/10.1097/01241398-199909000-00008.

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22

Harris, James C. "Lesch–Nyhan syndrome and its variants." Current Opinion in Psychiatry 31, no. 2 (March 2018): 96–102. http://dx.doi.org/10.1097/yco.0000000000000388.

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23

Nyhan, W. L. "Dopamine function in Lesch-Nyhan disease." Environmental Health Perspectives 108, suppl 3 (June 2000): 409–11. http://dx.doi.org/10.1289/ehp.00108s3409.

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24

Neychev, Vladimir Kostadinov, and HA Jinnah. "Sudden death in Lesch-Nyhan disease." Developmental Medicine & Child Neurology 48, no. 11 (October 18, 2006): 923. http://dx.doi.org/10.1017/s0012162206002015.

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25

Saito, Yoshiaki, Shigeru Hanaoka, Michio Fukumizu, Hiroyuki Morita, Tatsuya Ogawa, Kazutoshi Takahashi, Masayuki Ito, and Toshiaki Hashimoto. "Polysomnographic studies of Lesch–Nyhan syndrome." Brain and Development 20, no. 8 (December 1998): 579–85. http://dx.doi.org/10.1016/s0387-7604(98)00052-7.

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26

Jinnah, Hyder A., Fred H. Gage, and Theodore Friedmann. "Animal models of Lesch-Nyhan syndrome." Brain Research Bulletin 25, no. 3 (September 1990): 467–75. http://dx.doi.org/10.1016/0361-9230(90)90239-v.

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27

van Bogaert, P., I. Ceballos, I. Desguerre, L. Telvi, P. Kamoun, and G. Ponsot. "Lesch-Nyhan syndrome in a girl." Journal of Inherited Metabolic Disease 15, no. 5 (September 1992): 790–91. http://dx.doi.org/10.1007/bf01800022.

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28

Dauphinot, Luce, Lionel Mockel, Julie Cahu, H. A. Jinnah, Morgan Ledroit, Marie-Claude Potier, and Irène Ceballos-Picot. "Transcriptomic Approach to Lesch-Nyhan Disease." Nucleosides, Nucleotides and Nucleic Acids 33, no. 4-6 (April 4, 2014): 208–17. http://dx.doi.org/10.1080/15257770.2014.880477.

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29

Silverstein, F. S., M. V. Johnston, R. J. Hutchinson, and N. L. Edwards. "Lesch-Nyhan syndrome: CSF neurotransmitter abnormalities." Neurology 35, no. 6 (June 1, 1985): 907. http://dx.doi.org/10.1212/wnl.35.6.907.

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30

Matthews, Wendy S., Anita Solan, and Gabor Barabas. "COGNITIVE FUNCTIONING IN LESCH-NYHAN SYNDROME." Developmental Medicine & Child Neurology 37, no. 8 (November 12, 2008): 715–22. http://dx.doi.org/10.1111/j.1469-8749.1995.tb15017.x.

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31

Shewell, Peter C., and Alistair G. Thompson. "Atlantoaxial Instability in Lesch-Nyhan Syndrome." Spine 21, no. 6 (March 1996): 757–61. http://dx.doi.org/10.1097/00007632-199603150-00020.

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32

LARSON, LAWRENCE O., and ROBERT G. WILKINS. "Anesthesia and the Lesch-Nyhan Syndrome." Anesthesiology 63, no. 2 (August 1, 1985): 197–98. http://dx.doi.org/10.1097/00000542-198508000-00015.

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33

VECCHIO, FRANCESCA LA, S. GILBERT M.Sc, E. SPELLACY MB., and R. W. E. WATTS M.D. "Behavioural Treatment of Lesch-Nyhan Syndrome." Developmental Medicine & Child Neurology 22, no. 3 (November 12, 2008): 405–7. http://dx.doi.org/10.1111/j.1469-8749.1980.tb03728.x.

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34

Dasheiff, Richard M. "BENZODIAZEPINE TREATMENT FOR LESCH-NYHAN SYNDROME?" Developmental Medicine & Child Neurology 22, no. 1 (November 12, 2008): 101–2. http://dx.doi.org/10.1111/j.1469-8749.1980.tb04312.x.

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35

Lynch, Bryan J., and Michael J. Noetzel. "Recurrent coma and Lesch-Nyhan syndrome." Pediatric Neurology 7, no. 5 (September 1991): 389–91. http://dx.doi.org/10.1016/0887-8994(91)90073-t.

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36

Anderson, Lowell T., and Monique Ernst. "Self-injury in Lesch-Nyhan disease." Journal of Autism and Developmental Disorders 24, no. 1 (February 1994): 67–81. http://dx.doi.org/10.1007/bf02172213.

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37

Patel, Pragna I., and C. Thomas Caskey. "HPRT and the Lesch?Nyhan syndrome." BioEssays 2, no. 1 (January 1985): 4–8. http://dx.doi.org/10.1002/bies.950020103.

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38

Nyhan, William L., Linh-Uyen C. Vuong, and Robyn Broock. "Prenatal diagnosis of Lesch-Nyhan disease." Prenatal Diagnosis 23, no. 10 (2003): 807–9. http://dx.doi.org/10.1002/pd.691.

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39

Kleijer, W. J., P. van den Berg, and F. J. Los. "Prenatal diagnosis of Lesch–Nyhan disease." Prenatal Diagnosis 24, no. 8 (August 2004): 658–59. http://dx.doi.org/10.1002/pd.885.

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40

Park, Han Ick, Gu-Hwan Kim, and Kang-Min Ahn. "Lesch–Nyhan syndrome: a case report." Journal of the Korean Association of Oral and Maxillofacial Surgeons 49, no. 4 (August 31, 2023): 228–32. http://dx.doi.org/10.5125/jkaoms.2023.49.4.228.

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41

Kale, A., K. Shah, and S. Hallikerimath. "Lesch-Nyhan syndrome: A case report." Journal of Indian Society of Pedodontics and Preventive Dentistry 26, no. 5 (2008): 11. http://dx.doi.org/10.4103/0970-4388.41747.

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42

Madke, Bhushan, Sumit Kar, Nidhi Yadav, and Priyanka Chandekar. "Lesch-nyhan syndrome in an Indian child." Indian Journal of Dermatology 60, no. 3 (2015): 298. http://dx.doi.org/10.4103/0019-5154.156392.

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43

AMRITA, A. SIVASANKER. "A CURIOUS CASE OF LESCH-NYHAN SYNDROME." i-manager’s Journal on Nursing 11, no. 1 (2021): 26. http://dx.doi.org/10.26634/jnur.11.1.17578.

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44

Fu, Rong, and H. A. Jinnah. "Genotype-Phenotype Correlations in Lesch-Nyhan Disease." Journal of Biological Chemistry 287, no. 5 (December 7, 2011): 2997–3008. http://dx.doi.org/10.1074/jbc.m111.317701.

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45

OGI, Nobumi, Toshihisa KATAURA, Hajime ODA, Shigeki OCHIAI, Kenichi KURITA, and Tsuyoshi KAWAI. "Lesch-Nyhan syndrome: Report of a case." Japanese Journal of Oral & Maxillofacial Surgery 35, no. 9 (1989): 2394–99. http://dx.doi.org/10.5794/jjoms.35.2394.

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46

Bell, Scott, Ilaria Kolobova, Liam Crapper, and Carl Ernst. "Lesch-Nyhan Syndrome: Models, Theories, and Therapies." Molecular Syndromology 7, no. 6 (2016): 302–11. http://dx.doi.org/10.1159/000449296.

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47

Roach, E. S., Mauricio Delgado, Louise Anderson, Susan T. Iannaccone, and Dennis K. Bums. "Carbamazepine Trial for Lesch-Nyhan Self-Mutilation." Journal of Child Neurology 11, no. 6 (November 1996): 476–78. http://dx.doi.org/10.1177/088307389601100613.

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48

Ernst, Monique, Alan J. Zametkin, John A. Matochik, Daisy Pascualvaca, Peter H. Jons, Kristina Hardy, James G. Hankerson, Doris J. Doudet, and Robert M. Cohen. "Presynaptic Dopaminergic Deficits in Lesch–Nyhan Disease." New England Journal of Medicine 334, no. 24 (June 13, 1996): 1568–72. http://dx.doi.org/10.1056/nejm199606133342403.

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49

Nyhan, William L., and Dean F. Wong. "New Approaches to Understanding Lesch–Nyhan Disease." New England Journal of Medicine 334, no. 24 (June 13, 1996): 1602–4. http://dx.doi.org/10.1056/nejm199606133342411.

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50

Doucet, B. P., D. Jegatheesan, and J. Burke. "Late diagnosis of Lesch-Nyhan disease variant." Case Reports 2013, dec10 1 (December 10, 2013): bcr2013201997. http://dx.doi.org/10.1136/bcr-2013-201997.

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