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Lesch-Nyhan syndrome — MetaHistoryBook
6th Happiness
·
CC BY 3.0
· via Wikimedia Commons
Lesch-Nyhan syndrome
rare genetic syndrome
Wikipedia ↗
Wikidata (Q727436) ↗
Details
Instance of
rare disease
,
type of disease
Subclass of
X-linked recessive disease
,
hypoxanthine-guanine phosphoribosyltransferase deficiency
drug or therapy used for treatment
allopurinol
genetic association
HPRT1
has cause
Hypoxanthine phosphoribosyltransferase 1
health specialty
endocrinology
named after
Michael Lesch
,
William Nyhan
symptoms and signs
self-injury
Connected on Wikidata
Subject of
Safety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients With Lesch-Nyhan Disease
Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease
Trial of Kuvan in Lesch-Nyhan Disease
Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease
Nothing in the MetaHistoryBook collection references this item yet.
Authority files
Encyclopædia Britannica ↗