Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Haruko Goto
A Novelde Novo Mutation in HPRT Gene Responsible for Lesch-Nyhan Syndrome (HPRTosaka)
Japanese Journal of Human Genetics
Related publications
Lesch-Nyhan Syndrome: Report of a Case
Japanese Journal of Oral and Maxillofacial Surgery
New Personalized Genetic Mouse Model of Lesch-Nyhan Syndrome for Pharmacology and Gene Therapy
Research Results in Pharmacology
Lesch-Nyhan Syndrome: Case Brief of a Rare Disease
International Journal of Research in Medical Sciences
Diagnosis and Treatment of the Lesch-Nyhan Syndrome
Pediatric Research
Child Health
Pediatrics
Perinatology
Semi-Fixed Lip Bumper in Lesch-Nyhan Syndrome: An Interim Treatment Modality
THE JOURNAL OF THE KOREAN ACADEMY OF PEDTATRIC DENTISTRY
HPRT-Deficiency Dysregulates cAMP-PKA Signaling and Phosphodiesterase 10A Expression: Mechanistic Insight and Potential Target for Lesch-Nyhan Disease?
PLoS ONE
Multidisciplinary
A Case of Lesch-Nyhan Syndrome Presenting With Self-Injurious Behavior of the Oral Mucosa
Japanese Journal of Oral and Maxillofacial Surgery
Medical Genetics: Advances in Brief: Duplication in the Hypoxanthine Phosphoribosyl-Transferase Gene Caused by Alu-Alu Recombination in a Patient With Lesch-Nyhan Syndrome
Journal of Medical Genetics
Genetics
Lesch-Nyhan Disease: A Rare Disorder With Many Unresolved Aspects
Medical University
