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■ Abbreviation / Long Form : LND / Lesch-Nyhan disease

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Total Number of Papers: 87
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Abbreviation:   LND  (>> Co-occurring Abbreviation)
Long Form:   Lesch-Nyhan disease
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No. Year Title Co-occurring Abbreviation
2020 Late diagnosis of Lesch-Nyhan disease complicated with end-stage renal disease and tophi burst: a case report. ESRD
2020 Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening. HGPRT, iPSCs
2019 Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency. HND, HRH
2019 Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: Preliminary in vitro studies with analogues of immucillin-G. HGPRT, PNP, UA, XOR
2019 The Effect of S-Adenosylmethionine Treatment on Neurobehavioral Phenotypes in Lesch-Nyhan Disease: A Case Report. SAMe
2019 [Generation of cell strains containing point mutations in HPRT1 by CRISPR/Cas9]. HDR, HPRT1, ssODN
2018 Aicar effect in early neuronal development. AICAR, HPRT, RA, SHH, TGF-beta
2018 Altered gastrointestinal motility in an animal model of Lesch-Nyhan disease. HGPRT, HGprt
2018 Expert Opinion vs Patient Perspective in Treatment ofRareDisorders: Tooth Removal in Lesch-Nyhan Disease asanExample. SIB
10  2017 Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein. HGPRT
11  2017 Lesch-Nyhan disease in two families from Chiloe Island with mutations in the HPRT1 gene. HGPRT, HPRT1
12  2017 Novel mutation in HPRT1 causing a splicing error with multiple variations. HPRT
13  2017 Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease. HGPRT, HND
14  2017 Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease. APP-mRNA isoforms, HPRT1
15  2017 Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the Literature. SUDEP
16  2017 Skewed X inactivation in Lesch-Nyhan disease carrier females. HPRT, XCI
17  2017 The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease. SAM
18  2017 Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency. APRT, HPRT, LNV
19  2016 A clinical trial of safety and tolerability for the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease. SIB
20  2016 A double-blind, placebo-controlled, crossover trial of the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease. SIB
21  2016 Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex. HPRT, TSC
22  2016 Development of new forms of self-injurious behavior following total dental extraction in Lesch-Nyhan disease. ---
23  2016 Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling? HC, HGPRT
24  2016 Non-targeted metabolomics by high resolution mass spectrometry in HPRT knockout mice. 1-MI4AA, AICAR, HPLC, HPRT, QTOF-MS
25  2016 Reduced levels of dopamine and altered metabolism in brains of HPRT knock-out rats: a new rodent model of Lesch-Nyhan Disease. HPRT
26  2016 Towards rational drug treatment of Lesch-Nyhan disease. SIB
27  2015 Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants. ---
28  2015 Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways. HGPRT
29  2015 Consequences of impaired purine recycling on the proteome in a cellular model of Lesch-Nyhan disease. DAVID, HGPRT, NGF, SILAC
30  2015 Hydrophilic-interaction liquid chromatography-tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency. HPRT, MRM, PRPP
31  2015 Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis. HPRT, RA, TH
32  2015 MicroRNAs: tools of mechanistic insights and biological therapeutics discovery for the rare neurogenetic syndrome Lesch-Nyhan disease (LND). ceRNAs, HPRT, miRNAs
33  2015 Mild Lesch-Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype-Phenotype Correlation. HPRT
34  2015 Remarkable clinical improvement with bilateral globus pallidus internus deep brain stimulation in a case of Lesch-Nyhan disease: five-year follow-up. BFMDRS, DBS, GPi, MDS
35  2014 Consequences of Delayed Dental Extraction in Lesch-Nyhan Disease. ---
36  2014 HPRT deficiency in Spain: what have we learned in the past 30 years (1984-2013)? HPRT
37  2014 Lateralized effect of pallidal stimulation on self-mutilation in Lesch-Nyhan disease. DBS, GPi
38  2014 Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease. FACS, HGPRT, TH
39  2014 Transcriptomic approach to Lesch-Nyhan disease. GO, HPRT
40  2014 Treatment of Lesch-Nyhan disease with S-adenosylmethionine: experience with five young Malaysians, including a girl. SAMe
41  2013 HIV-1 TAT-mediated protein transduction of human HPRT into deficient cells. HPRT
42  2013 HPRT-deficiency dysregulates cAMP-PKA signaling and phosphodiesterase 10A expression: mechanistic insight and potential target for Lesch-Nyhan Disease? cAMP, HPRT, PDE10A, PKA
43  2013 Molecular characterization and structure analysis of HPRT in a Chinese patient with Lesch-Nyhan disease. HPRT
44  2013 The housekeeping gene hypoxanthine guanine phosphoribosyltransferase (HPRT) regulates multiple developmental and metabolic pathways of murine embryonic stem cell neuronal differentiation. DA, HPRT, iPS, SPPA
45  2012 Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch-Nyhan patients. ---
46  2012 Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect in HPRT gene expression regulation. HPRT
47  2012 Impairment of adenylyl cyclase 2 function and expression in hypoxanthine phosphoribosyltransferase-deficient rat B103 neuroblastoma cells as model for Lesch-Nyhan disease: BODIPY-forskolin as pharmacological tool. AC, FS, HPRT, MANT
48  2012 MicroRNA-mediated dysregulation of neural developmental genes in HPRT deficiency: clues for Lesch-Nyhan disease? En1, EN2, HPRT
49  2012 Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase. HPRT
50  2011 A population study of Lesch-Nyhan disease in the UK. ---
51  2011 Impaired P2X and P2Y receptor-mediated signaling in HPRT-deficient B103 neuroblastoma cells. HPRT
52  2011 Levodopa is not a useful treatment for Lesch-Nyhan disease. ---
53  2011 PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse. HPRT, PRTFDC1
54  2010 Deficiency of the housekeeping gene hypoxanthine-guanine phosphoribosyltransferase (HPRT) dysregulates neurogenesis. CNS, DA, HPRT, shRNA
55  2010 Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects. DA, hNSCs, HPRT
56  2009 Gene expression and mRNA editing of serotonin receptor 2C in brains of HPRT gene knock-out mice, an animal model of Lesch-Nyhan disease. HPRT, PCR, SIB
57  2009 Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis. HPRT
58  2009 Lesch-Nyhan disease: from mechanism to model and back again. HPRT
59  2009 NAD metabolism in HPRT-deficient mice. HPRT
60  2008 Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations. HPRT, HRND, HRND
61  2008 Is ZMP the toxic metabolite in Lesch-Nyhan disease? AMPK, HPRT
62  2008 Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks. ---
63  2008 [Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)]. HPRT, HRH, HRND
64  2007 Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients. HPRT, HRND
65  2007 Partial characterization of the proteome of the mouse striatum. HPRT
66  2007 Tissue-specific aberrations of gene expression in HPRT-deficient mice: functional complexity in a monogenic disease? HPRT
67  2006 Decreased GTP-stimulated adenylyl cyclase activity in HPRT-deficient human and mouse fibroblast and rat B103 neuroblastoma cell membranes. AC, HPRT
68  2006 Delineation of the motor disorder of Lesch-Nyhan disease. HPRT
69  2006 Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration. ---
70  2006 Lesch-Nyhan disease in a 20-year- old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy. HPRT
71  2006 Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease. HPRT
72  2006 Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease). HPRT
73  2006 Sudden death in Lesch-Nyhan disease. ---
74  2005 A Golgi study of neuronal architecture in a genetic mouse model for Lesch-Nyhan disease. HPRT
75  2005 Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines. HPRT, NTPase
76  2005 Behavioral aspects of Lesch-Nyhan disease and its variants. HC, LNV
77  2005 Guanine nucleotide depletion induces differentiation and aberrant neurite outgrowth in human dopaminergic neuroblastoma lines: a model for basal ganglia dysfunction in Lesch-Nyhan disease. HPRT, MPA
78  2005 Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. ---
79  2004 Nucleotide degradation products in cerebrospinal fluid (CSF) in inherited and acquired pathologies. ADSL, CSF, PNP
80  2004 The motor disorder of classic Lesch-Nyhan disease. ---
81  2003 Modes and patterns of self-mutilation in persons with Lesch-Nyhan disease. ---
82  2002 Fixed ratio discrimination training increases in vivo striatal dopamine in neonatal 6-OHDA-lesioned rats. DA, DOPAC, FRD
83  2001 Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency. ---
84  2000 Characterization of the dopamine defect in primary cultures of dopaminergic neurons from hypoxanthine phosphoribosyltransferase knockout mice. GDNF, HPRT
85  2000 Lesch-Nyhan disease and the basal ganglia. HPRT
86  1999 Bone marrow transplantation does not ameliorate the neurologic symptoms in mice deficient in hypoxanthine guanine phosphoribosyl transferase (HPRT). BMT, HPRT
87  1996 Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. DA