Results 81 to 90 of about 4,477 (107)

Clinical utility gene card for: Lesch-Nyhan syndrome. [PDF]

Eur J Hum Genet, 2011
Torres RJ, Puig JG, Ceballos-Picot I.
europepmc   +1 more source

Purine metabolism in cultured endothelial cells [PDF]

, 1980
Gerbes, Alexander L., Gerlach, E., Nees, S., Sperling, Oded, Willershausen, B.   +4 more
core   +1 more source

Case report: Whole exome sequencing identifies a novel variant in the <i>HPRT1</i> gene in a male with developmental delay. [PDF]

Front Genet
Zheng H, Chen G, Wang T, Cheng W, Yuan J, Liu F, Xu Y.   +6 more
europepmc   +1 more source

Self-injurious Behavior in a Young Child with Lesch-Nyhan Syndrome.

Indian J Psychol Med, 2016
Mohapatra S, Sahoo AJ.
europepmc   +1 more source

Lesch-Nyhan Syndrome in an Indian Child.

Indian J Dermatol, 2015
Chandekar P, Madke B, Kar S, Yadav N.
europepmc   +1 more source

Conductes desafiadores i context: el cas de l'Hèctor, un jove amb retard mental vinculat a una Síndrome de Cornelia de Lange [PDF]

, 1997
Tamarit, Javier
core  

An unanticipated difficult airway in Lesch-Nyhan syndrome.

J Anaesthesiol Clin Pharmacol, 2012
Salhotra R, Sharma C, Tyagi A, Kumar S, Sethi A, Bhatt S.   +5 more
europepmc   +1 more source

The Role of Purine Metabolism and Uric Acid in Postnatal Neurologic Development. [PDF]

Molecules
Mileti LN, Baleja JD.
europepmc   +1 more source

The diagnosis and treatment of disorders of nucleic acid/nucleotide metabolism associated with epilepsy. [PDF]

Acta Epileptol
Shi Y, Wei Z, Feng Y, Gan Y, Li G, Deng Y.   +5 more
europepmc   +1 more source