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Interesantísimo programa de la 2 de RTVE que se llama "Tengo once años".

 

Programa que se emite los sábados en la 2 de tve "Todos somos raros, Todos somos únicos"

Canal de televisión de MINORITARIA, entidad de economía social, sin ánimo de lucro, que tiene como objetivo representar y promocionar los intereses y necesidades de las personas y familiares afectados por una Enfermedad Minoritaria y dar visibilidad, voz e informar del día a día. Su programación se emite través de la red en tiempo real y con un alcance global, los lunes a las 13:00h a través de http://www.minoritaria.tv/

   

ESTUDIOS

En esta sección se hallan los estudios y escritos relacionados con la enfermedad que hemos hallado en las diferentes revistas de publicación científica de este país. Para poder visualizar los mismos de forma óptima debe tener instalado en su ordenador el programa Adobe Acrobar Reader.

 

"Comprender la naturaleza del comportamiento". (De obligada lectura).

Departamento de Psiquiatría del Hospital Universitario de New York.  
An Error in the Code New Yorker 2007
Evidence for Transfer of Enzyme Product as the Basis of Metabolic Cooperation between Tissue Culture Fibroblasts of Lesch-Nyhan Disease and Normal Cells. Proceedings of the National Academy of Sciences. 1970
Adenine Therapy for Lesch-Nyhan Syndrome. Pediat. Res. 1971
Adenine and Folic Acid in the Lesch-Nyhan Syndrome. Pediat. Res 1973
This Week’s Citation Classic.   1981
De Novo Purine Synthesis, Purine Salvage, and DNA Synthesis in Normal and Lesch-Nyhan Fibroblasts Infected with Mycoplasma pneumoniae. Infection and Immunity.

1983

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc. Nati. Acad. Sci. USA 1989
Dopamine Deficiency in a Genetic Mouse Model of Lesch-Nyhan Disease. The Journal of Neuroscience 1994
Síndrome de Lesch-Nyhan. Med. Clin (Barcelona). 1994
Espectro clínico en la deficiencia de HGPR estudio Lesch-Nyhan 12 pacientes Med. Clin. (Barcelona). 1994
Proton MR Spectroscopy in Lesch-Nyhan Disease. AJNR Am J Neuroradiol. 1998
Fisiopatología de las manifestaciones neurológicas en la deficiencia de hipoxantina-guanina fosforribosiltransferasa. Rev.Neurol. 1998
Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency. European Journal of Clinical Investigation. 1998
Abnormal Purine and Pyrimidine Nucleotide Content in Primary Astroglia Cultures from Hypoxanthine–Guanine Phosphoribosyltransferase-Deficient Transgenic Mices Journal of Neurochemistry. 1999
Tratamiento fisioterápico en el síndrome de Kelley-Seegmiller. Fisioterapia. 2000
Molecular Basis of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Thirteen Sapnish Families. Human Mutation. 2000
The Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Deficiency. Medicine 2001
Tratamiento del Síndrome de Lesch-Nyhan Rev. Neurol. 2002
Fenotipos Conductuales.Patrones Neuropsicológicos biológicamente determinados. Rev. Neurol. 2003
Departarment Paediatric Dentistry.   2004
Experiencia en enfermedades raras: el síndrome de Lesch-Nyhan. Med.Clin (Barcelona). 2004
Adenosine transport in peripheral blood lymphocytes from Lesch–Nyhan patients. Biochem. J. 2004
Behavioral aspects of Lesch–Nyhan disease and its variants. Developmental Medicine & Child Neurology 2005
Developmental Medicine & Child Neurology
2005
Delineation of the motor disorder of Lesch-Nyhan disease. Brain. 2006

Dramatic reduction in self injury in Lesch–Nyhan disease following S-adenosylmethionine administration.pdf

JIMD short report 2006
Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency. Metabolism Clinical and Experimental. 2007
Hypoxanthine decreases equilibrative type of adenosine transport in lymphocytes from Lesch-Nyhan patients. European Journal of Clinical investigation. 2007

Tríptico informativo sobre el síndrome o enfermedad de Lesch-Nyhan.

Asociación Síndrome Lesch-Nyhan España . 2007
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency Lesch-Nyhan syndrome. Orphanet Journal of Rare Diseases. 2007
Tríptico informativo sobre el síndrome o enfermedad de Lesch-Nyhan. Hospital Sant Joan de Deu de Barcelona 2008
Apraxia of Lid Opening Mimicking Ptosis in Compound Heterozygosity for A467T and W748S POLG1 Mutations. Movements Disorders. 2008
Urinary Guanidinoacetate and Creatine Levels in Patients with HPRT Deficiency. Nucleosides, Nucleotides and Nucleics Acids. 2008
The Diagnosis Of HPRT Deficiency in the 21St Century. Nucleosides, Nucleotides and Nucleics Acids. 2008
Society For the Study of Behavioural Phenotypes.    
Normal HPRT coding region in complete and partial HPRT deficiency. Molecular Genetics and Metabolism. 2008
Paciente con sindrome de Lesch-Nyhan atendido en el Departamento de Estomatologia Pediátrica del Hospital Infantil de Tamaulipas. Reporte de caso. Revista Odontológica Mexicana. 2008
Botulinum Toxin: Treatment of Self-Mutilation in Patients With Lesch-Nyhan Syndrome. Clinical Neuropharmacology. 2008
Toxina Botulinica como nuevo tratamiento en la autolesion en Lesch-Nyhan.    
Tratamiento de las distonías, con toxina botulínica. Servicio de Neurología. Hospital Clínic Barcelona  
Efficacy of Rasburicase in Hyperuricemia Secondary to Lesch Nyhan Syndrome. American Journal of Kidney Diseases .  2009
Abnormal adenosine and dopamine receptor expression in lymphocytes of Lesch-Nyhan patients. Brain Behavior and Immunity. 2009
Ecopipam for the treatment of Lesch-Nyhan disease. European Medicine Agency. 2010
Clinical utility gene card for: Lesch–Nyhan syndrome. European Journal of Human Genetics. 2010
Attenuated variants of Lesch–Nyhan disease. Brain. 2010
Lesch-Nyhan Syndrome. DRUGS OF THE FUTURE . 2010
Methylation Status of HPRT1 Promoter in HPRT Deficiency with Normal Coding Region. Nucleosides, Nucleotides and Nucleics Acids. 2010
Partial HPRT Deficiency Phenotype and Incomplete Splicing Mutation. Nucleosides, Nucleotides and Nucleics Acids. 2010
Mechanisms for phenotypic variation in Lesch–Nyhan disease and its variants. Human Genetics. 2011
Fenotipo variante del síndrome de Lesch-Nyhan. Med. Clin (Barcelona)

2011

Adenosine, dopamine and serotonin receptors imbalace in lymphocytes of Lesch-Nyhan patients. J Inherit Metabolism Dis 2012
Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect en HPRT gene expression regulation. Gene 2012
The Housekeeping Gene Hypoxanthine Guanine Phosphoribosiltransferase Regulates Multiple Developmental and Metabolic Phatways of Murine Embryonic Stem Cell Neuronal Differentiation Plos One 2013
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder Brain 2013
Enzyme activity and brain anatomy:lessons from HPRT deficiency.  Lancet Neurology 2013

Quantitative Evaluation Of The Clinical Effects Of S-ADENOSYLMETHIONINE On Mood And Behavior In Lesch-Nyhan Patients

Nucleosides, Nucleotides and Nucleics Acids 2013
HPRT Deficiency in Spain: What Have We Learned in the Past 30 Years (1983-2013)? Nucleosides, Nucleotides and Nucleics Acids. 2014