| 1 |
Lesch-Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype. ( 29227296
)
|
Harris J.C.
|
2018 |
| 2 |
Lesch-Nyhan Syndrome in a Chinese Family with Mutation in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene. ( 29479880
)
|
Huang J....Chen Y.
|
2018 |
| 3 |
Oral self-mutilation in Lesch-Nyhan Syndrome. Case Report. ( 29664508
)
|
Campolo GonzA!lez A....HernA!ndez ChA!vez M.
|
2018 |
| 4 |
Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior. ( 28357186
)
|
Tewari N....Bansal K.
|
2017 |
| 5 |
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature. ( 27079129
)
|
Vargiami E....Zafeiriou D.I.
|
2016 |
| 6 |
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome. ( 27379977
)
|
Nguyen K.V....Nyhan W.L.
|
2016 |
| 7 |
Lesch-Nyhan Syndrome: Disorder of Self-mutilating Behavior. ( 27365935
)
|
Jathar P....Gawali P.N.
|
2016 |
| 8 |
HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report. ( 27420966
)
|
Stur E....Louro I.D.
|
2016 |
| 9 |
Self-injurious Behavior in a Young Child with Lesch-Nyhan Syndrome. ( 27833236
)
|
Mohapatra S....Sahoo A.J.
|
2016 |
| 10 |
Lesch-Nyhan Syndrome: Models, Theories, and Therapies. ( 27920633
)
|
Bell S....Ernst C.
|
2016 |
| 11 |
Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene. ( 25965333
)
|
Nguyen K.V....Nyhan W.L.
|
2015 |
| 12 |
Epigenetic Regulation in Amyloid Precursor Protein with Genomic Rearrangements and the Lesch-Nyhan Syndrome. ( 26398526
)
|
Nguyen K.V.
|
2015 |
| 13 |
Lesch-Nyhan Syndrome in an Indian Child. ( 26120162
)
|
Chandekar P....Yadav N.
|
2015 |
| 14 |
Striatal neurodevelopment is dysregulated in purine metabolism deficiency and impacts DARPP-32, BDNF/TrkB expression and signaling: new insights on the molecular and cellular basis of Lesch-Nyhan Syndrome. ( 24804781
)
|
Guibinga G.H....Pandori W.
|
2014 |
| 15 |
Epigenetic regulation in amyloid precursor protein and the Lesch-Nyhan syndrome. ( 24680827
)
|
Nguyen K.V.
|
2014 |
| 16 |
Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child. ( 24503445
)
|
Rebai I....Gouider-Khouja N.
|
2014 |
| 17 |
Recurrent thrombosis in a patient with Lesch-Nyhan syndrome. ( 24530950
)
|
Riaz I.B....Ateeli H.
|
2014 |
| 18 |
Deficiency of the purine metabolic gene HPRT dysregulates microRNA-17 family cluster and guanine-based cellular functions: a role for EPAC in Lesch-Nyhan syndrome. ( 23804752
)
|
Guibinga G.H....Hrustanovic G.
|
2013 |
| 19 |
Normal Uricemia in Lesch-Nyhan Syndrome and the Association with Pulmonary Embolism in a Young Child-A Case Report and Literature Review. ( 23597535
)
|
Tsai J.D....Sheu J.N.
|
2013 |
| 20 |
Linkage between HPRTB STR alleles and Lesch-Nyhan syndrome inside a family: Implications in forensic casework. ( 23063963
)
|
Gil A....GusmALo L.
|
2013 |
| 21 |
Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013. ( 23321622
)
|
Torres R.J....Ceballos-Picot I.
|
2013 |
| 22 |
Lesch-Nyhan syndrome in an Indian family with novel mutation in the HPRT1 gene. ( 22183764
)
|
Sharma S....Sethi G.R.
|
2012 |
| 23 |
Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome. ( 22350962
)
|
KA!llay K....KrivA!n G.
|
2012 |
| 24 |
An unanticipated difficult airway in Lesch-Nyhan syndrome. ( 22557752
)
|
Salhotra R....Bhatt S.
|
2012 |
| 25 |
Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA. ( 22766437
)
|
Nguyen K.V....Nyhan W.L.
|
2012 |
| 26 |
Pallidal deep-brain stimulation associated with complete remission of self-injurious behaviors in a patient with Lesch-Nyhan syndrome: a case report. ( 21940691
)
|
Deon L.L....Gaebler-Spira D.J.
|
2012 |
| 27 |
Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome. ( 22132985
)
|
Taniguchi A....Yamanaka H.
|
2011 |
| 28 |
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome. ( 21331772
)
|
Oh M.M....Moon d.u. .G.
|
2011 |
| 29 |
Clinical utility gene card for: Lesch-Nyhan syndrome. ( 20648055
)
|
Torres R.J....Ceballos-Picot I.
|
2011 |
| 30 |
Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype. ( 20695874
)
|
Gucev Z....Tasic V.
|
2010 |
| 31 |
Effective treatment of self-injurious oral trauma in Lesch-Nyhan syndrome: a case report. ( 21078074
)
|
Arhakis A....Kotsanos N.
|
2010 |
| 32 |
Posterior column degeneration in the cervical/thoracic spinal cord in Lesch-Nyhan syndrome (LNS): a case report. ( 20874729
)
|
Stall J.N....Hattab E.M.
|
2010 |
| 33 |
Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome. ( 18992978
)
|
Roche A....Artuch R.
|
2009 |
| 34 |
A model of behavioral treatments for self-mutilation behavior in Lesch-Nyhan syndrome. ( 18287946
)
|
Zilli E.A....Hasselmo M.E.
|
2008 |
| 35 |
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn. ( 17701224
)
|
Pela I....Fiorini P.
|
2008 |
| 36 |
Botulinum toxin: treatment of self-mutilation in patients with Lesch-Nyhan syndrome. ( 18520986
)
|
Gutierrez C....Micheli F.
|
2008 |
| 37 |
Lesch-Nyhan syndrome: a case report. ( 18974538
)
|
Kale A....Hallikerimath S.
|
2008 |
| 38 |
Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis. ( 17680274
)
|
Kersnik Levart T.
|
2007 |
| 39 |
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. ( 18067674
)
|
Torres R.J....Puig J.G.
|
2007 |
| 40 |
A preventive approach to oral self-mutilation in Lesch-Nyhan syndrome: a case report. ( 16903443
)
|
Jeong T.S....Tootla R.G.
|
2006 |
| 41 |
Lesch-Nyhan syndrome: reconstruction of a calcaneal defect with a sural flap. ( 16537260
)
|
Kesiktas E....AcartA1rk S.
|
2006 |
| 42 |
Hypoxanthine effect on equilibrative and concentrative adenosine transport in human lymphocytes: implications in the phatogenesis of Lesch-Nyhan syndrome. ( 17065065
)
|
Prior C....Puig J.G.
|
2006 |
| 43 |
Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome. ( 17062485
)
|
Hou J.W.
|
2006 |
| 44 |
Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome. ( 16773422
)
|
Sikora P....Zajczkowska M.
|
2006 |
| 45 |
Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients. ( 17065067
)
|
Torres R.J....Puig J.G.
|
2006 |
| 46 |
Self-mutilation in the Lesch-Nyhan syndrome. ( 16344506
)
|
Maramattom B.V.
|
2005 |
| 47 |
Botulinum toxin as a novel treatment for self-mutilation in Lesch-Nyhan syndrome. ( 16138673
)
|
Dabrowski E....Leleszi J.P.
|
2005 |
| 48 |
Electrophysiological characteristics of limbic and motor globus pallidus internus (GPI) neurons in two cases of Lesch-Nyhan syndrome. ( 16530134
)
|
Pralong E....Villemure J.G.
|
2005 |
| 49 |
Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome. ( 15711436
)
|
Deutsch S.I....Eller J.
|
2005 |
| 50 |
Self-mutilation behaviour in Lesch-Nyhan syndrome. ( 16138897
)
|
Cauwels R.G....Martens L.C.
|
2005 |
Rare neurological diseases
