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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
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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 (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 (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 (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 (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 (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

Niederprüm, Carolin, Reiner Haus, and Isabel Neitzel. "Lesch-Nyhan-Syndrom." Sprache · Stimme · Gehör 49, no. 02 (2025): 60. https://doi.org/10.1055/a-2356-8768.

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10

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

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11

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

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12

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

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13

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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14

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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15

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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16

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

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17

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

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18

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

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19

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

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20

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

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21

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

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22

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 (1999): 596. http://dx.doi.org/10.1097/01241398-199909000-00008.

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23

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

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24

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

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25

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

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26

Saito, Yoshiaki, Shigeru Hanaoka, Michio Fukumizu, et al. "Polysomnographic studies of Lesch–Nyhan syndrome." Brain and Development 20, no. 8 (1998): 579–85. http://dx.doi.org/10.1016/s0387-7604(98)00052-7.

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27

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

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28

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 (1992): 790–91. http://dx.doi.org/10.1007/bf01800022.

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29

Dauphinot, Luce, Lionel Mockel, Julie Cahu, et al. "Transcriptomic Approach to Lesch-Nyhan Disease." Nucleosides, Nucleotides and Nucleic Acids 33, no. 4-6 (2014): 208–17. http://dx.doi.org/10.1080/15257770.2014.880477.

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30

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

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31

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

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32

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

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33

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

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34

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 (2008): 405–7. http://dx.doi.org/10.1111/j.1469-8749.1980.tb03728.x.

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35

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

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36

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

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37

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

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38

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

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39

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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40

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

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41

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 (2023): 228–32. http://dx.doi.org/10.5125/jkaoms.2023.49.4.228.

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42

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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43

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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44

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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45

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

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46

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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47

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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48

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 (1996): 476–78. http://dx.doi.org/10.1177/088307389601100613.

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49

Ernst, Monique, Alan J. Zametkin, John A. Matochik, et al. "Presynaptic Dopaminergic Deficits in Lesch–Nyhan Disease." New England Journal of Medicine 334, no. 24 (1996): 1568–72. http://dx.doi.org/10.1056/nejm199606133342403.

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50

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

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