1 nes: TOR1A, THAP1, SGCE, KMT2B, HPRT1 (
Lesch Nyhan disease), PANK2 and GCDH (Glutaric Aciduria type 1
2 Lesch-
Nyhan disease (LND) is an inherited disorder caused by p
3 Lesch-
Nyhan disease (LND) is an X-linked genetic disorder caus
4 Lesch-
Nyhan disease (LND) is caused by congenital deficiency o
5 Lesch-
Nyhan disease (LND) is caused by deficiency of the purin
6 Lesch-
Nyhan Disease (LND) is the result of mutations in the X-
7 Lesch-
Nyhan disease (LND), caused by a deficient salvage purin
8 Lesch-
Nyhan disease and its attenuated variants are caused by
9 Lesch-
Nyhan disease is a neurogenetic disorder caused by defic
10 Lesch-
Nyhan disease is a rare, devastating, X-linked recessive
11 Lesch-
Nyhan disease is an X-linked recessive disorder that is
12 Lesch-
Nyhan syndrome encompasses a host of neurological sympto
13 rior reports describing a total of 127
Lesch-
Nyhan disease variants.
14 ciency states such as Parkinsonism and
Lesch-
Nyhan disease.
15 ely model Parkinson's disease (PD) and
Lesch-
Nyhan syndrome (LNS).
16 logical conditions such as cholera and
Lesch-
Nyhan syndrome.
17 rn errors of purine metabolism such as
Lesch-
Nyhan syndrome, and metabolic diseases with a lifestyle
18 pathway, and mutations in HPRT1 cause
Lesch-
Nyhan disease.
19 ectly contacts the Mg(2+) ions, causes
Lesch-
Nyhan syndrome (HGPRT(Kinston), D193N).
20 the spectrum are patients with classic
Lesch-
Nyhan disease and the full clinical phenotype.
21 ometabolic conditions, such as classic
Lesch-
Nyhan syndrome.
22 (DA) deficiency has been implicated in
Lesch-
Nyhan disease (LND), a genetic disorder that is characte
23 germ-line HPRT mutations identified in
Lesch-
Nyhan syndrome or hyperuricemia patients.
24 n-dopaminergic neuronal development in
Lesch-
Nyhan syndrome.
25 abnormalities in adulthood that mimic
Lesch-
Nyhan disease, schizophrenia, and other developmental di
26 the use of female hiPSCs for modeling
Lesch-
Nyhan syndrome.
27 use the intractable neurodevelopmental
Lesch-
Nyhan disease (LND) associated with aberrant development
28 anifestations of the largest cohort of
Lesch-
Nyhan disease variants evaluated to date, with 46 patien
29 6-hydroxydopamine (6-OHDA; a model of
Lesch-
Nyhan syndrome (LNS)) or vehicle (unlesioned rats).
30 transferase (HGPRTase) is the locus of
Lesch-
Nyhan syndrome, the activator of the prodrugs 6-mercapto
31 )/trisomy 21, and the carrier state of
Lesch-
Nyhan syndrome.
32 their toxicity and to the symptoms of
Lesch-
Nyhan syndrome.
33 oral abnormalities associated with the
Lesch-
Nyhan syndrome as previously suggested.
34 T) deficiency in humans results in the
Lesch-
Nyhan syndrome which is characterized, among other featu
35 order in the HPRT gene (leading to the
Lesch-
Nyhan syndrome) is unique to human, chimpanzee, and gori
36 ehavioral symptoms associated with the
Lesch-
Nyhan syndrome.
37 These factors are not unique to
Lesch-
Nyhan disease, and are relevant to most other genetic di
38 mutations in the human HPRT leading to
Lesch-
Nyhan syndrome (D193N) or gout (S103R or S109L), as the
39 nlikely to contribute substantially to
Lesch-
Nyhan syndrome burden.
40 PRT1, the housekeeping gene underlying
Lesch-
Nyhan syndrome, an X-linked recessive disorder.
41 ions of the brains of 12 patients with
Lesch-
Nyhan disease (age, 10 to 20 years) and 15 healthy contr
42 ess HGPRT activity are associated with
Lesch-
Nyhan disease (LND), a rare X-linked metabolic and neuro
43 Patients with
Lesch-
Nyhan disease have abnormally few dopaminergic nerve ter
44 ntum; 57 percent) in the patients with
Lesch-
Nyhan disease than in the controls.