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Dopaminergic (mal-)development in absence of hprt in lesch-nyhan disease

Visser, J.E.
Witteveen, J.S.
Boekel, W. Van
Jinnah, H.A.
Martens, G.J.M.
Kolk, S.M.

Publication date

January 2014

DOI

10.1002/mds.25914

Publisher

Wiley

Abstract

Contains fulltext : 130560.pdf (Publisher’s version ) (Closed access

Extracted data

Topics

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Jinnah, H.A.
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Animal and cell models for Lesch-Nyhan syndrome

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Jacomelli G.
Santucci A.
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Lesch–Nyhan Disease (LND) is a rare X-linked recessive metabolic and neurological syndrome due to th...

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Ceballos-Picot, I.
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Verdu, A.
Larovere, L.E.
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Abreu, R.A. de

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Contains fulltext : 25652___.PDF (publisher's version ) (Open Access

[From gene to disease; dopamine-beta-hydroxylase deficiency and orthostatic hypotension]

Deinum, J.
Meiracker, A.H. van den
Boomsma, F.
Ittersum, F.J. van
Wevers, R.A.
Lenders, J.W.M.

January 2004

Contains fulltext : 58971.pdf (publisher's version ) (Closed access)The DBH gene e...

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome-0

Rosa J Torres (86485)
Juan G Puig (86486)

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<p><b>Copyright information:</b></p><p>Taken from "Hypoxanthine-guanine phosophoribosyltransferase (...

Congenital dopamine-beta-hydroxylase deficiency in humans.

Timmers, H.J.L.M.
Deinum, J.
Wevers, R.A.
Lenders, J.W.M.

January 2004

Contains fulltext : 58887.pdf (publisher's version ) (Closed access)Dopamine-beta-...

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

January 2010

Contains fulltext : 87597.pdf (publisher's version ) (Closed access)Tyrosine hydro...

Lesch-Nyhan Disease and Related Disorders of Purine Metabolism

Nyhan, William L.

September 2007

AbstractLesch-Nyhan disease is the most severe or complete phenotype of deficiency in hypoxanthine-g...

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

Puig Juan G
Torres Rosa J

December 2007

Abstract Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn e...

Lesch-Nyhan syndrome: case brief of a rare disease

Agarwalla, Sunil Kumar
Satapathy, Jagatshreya

October 2018

Lesch-Nyhan Syndrome is a rare X- linked disease due to absence of HPRT enzyme. It leads to hyperuri...

Tyrosine hydroxylase deficiency with severe clinical course.

Zafeiriou, D.I.
Willemsen, M.A.A.P.
Verbeek, M.M.
Vargiami, E.
Ververi, A.
Wevers, R.A.

January 2009

Contains fulltext : 81047.pdf (publisher's version ) (Closed access)Tyrosine hydro...

Zimmermann-Laband syndrome in a patient with severe mental retardation

Buggenhout, G.J.C.M. van
Brunner, H.G.
Trommelen, J.C.M.
Hamel, B.C.J.

January 1995

Contains fulltext : 21548___.PDF (publisher's version ) (Open Access

Specific features of the clinical and laboratory diagnosis of Lesch—Nyhan syndrome and current therapy options

M. I. Yablonskaya
P. V. Novikov
E. G. Agapov
I. V. Zolkina
E. A. Yuryeva
M. N. Kharabadze

January 2015

<p>The rare hereditary diseases encountered in the practice of pediatricians, pediatric neurologists...