Results 121 to 130 of about 2,914 (160)

Orthotic Treatments in the Management of Self-Mutilation in Lesch-Nyhan Syndrome.

, 1997
Kyoko Maruta, Ohi T, K Arimura, Yasaburo TANIGUTI, Shigeru Matsukura   +4 more
openalex   +2 more sources

Mechanism of Sodium-Glucose Cotransporter-2 Inhibitors for Uricosuria. [PDF]

Electrolyte Blood Press
Bae E.
europepmc   +1 more source

[Lesch-Nyhan syndrome].

Revista chilena de pediatria, 1983
S, Chernilo, F, Puga, M, Aspillaga, I, Avendaño   +3 more
openaire   +1 more source

Modeling rare genetic disease with patient-derived induced pluripotent stem cells: reassessment of the minimum numbers of lines needed. [PDF]

Stem Cells Transl Med
Dinasarapu AR, Sutcliffe DJ, Grychowski L, Ozel E, Thite A, Visser JE, Hess EJ, Kolk SM, Jinnah HA.   +8 more
europepmc   +1 more source

P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in a female via karyotype analysis

Genetics in Medicine Open
Joseph Biddle, Teresa Campbell, Alba Sanchis-Juan, Gabrielle Lemire, Lance Rodan, Melanie O'Leary, Christina Austin-Tse, Anne O'Donnell-Luria, Laurie Sadler   +8 more
doaj   +1 more source

Innovations and African Health Sciences: telling it beyond our environs. [PDF]

Afr Health Sci
Tumwine JK.
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

Dopamine Transporter Deficiency Syndrome: A Rare Case of Infantile-Onset Dystonia-Parkinsonism. [PDF]

J Mov Disord
Madduluri B, Garapati D, Yareeda S.
europepmc   +1 more source

Lesch-Nyhan Syndrome [PDF]

, 2019
openaire   +1 more source