Results 131 to 140 of about 1,232,023 (188)

Small populations, big impact: leveraging rare disease gene therapies to benefit millions. [PDF]

J Clin Invest
Cherqui S.
europepmc   +1 more source

Abstract No: 528 Misclassification, and wrong treatment, avoided by FTIR characterization of xanthine stones in Lesch–Nyhan syndrome

Kidney International Reports
M. Caruso, A. Perna, P. Betti
doaj   +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

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

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

Afr Health Sci
Tumwine JK.
europepmc   +1 more source

Recent advances in research on the association between paediatric hyperuricaemia and bone health. [PDF]

Front Endocrinol (Lausanne)
Zhang T, Li X, Liu X.
europepmc   +1 more source

[Lesch-Nyhan syndrome].

Archivio stomatologico, 1989
The A.A. outline the Lesch-Nyhan syndrome describing its natural history, etiology, pathology, anatomo-pathology and the clinical, diagnostic and therapeutic principles.
SPERA M, PALOMBA F, RULLO, Rosario
openaire   +3 more sources

Self-mutilation behaviour in Lesch–Nyhan syndrome

Journal of Oral Pathology and Medicine, 2005
Lesch-Nyhan syndrome (LNS), first described in 1964 by Lesch and Nyhan, is a rare X-linked genetic disorder involving (near) absence of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT). It occurs in 1:100 000 to 380 000 live births (1, 2)
Rita Cauwels, L C Martens
exaly   +2 more sources