The Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Deficiency-Reference-Cited by-同舟云学术

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The Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Deficiency

Published:2001-03 Issue:2 Volume:80 Page:102-112
ISSN:0025-7974
Container-title:Medicine
language:en
Short-container-title:Medicine

Author:

PUIG JUAN G.,TORRES ROSA J.,MATEOS FELÍCITAS A.,RAMOS TERESA H.,ARCAS JOAQUÍN M.,BUÑO ANTONIO S.,O’NEILL PATRICK

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference38 articles.

1. Lesch-nyhan variant: Dystonia, ataxia, near-normal intelligence, and no self-mutilation

2. Utilization of Purines by an HPRT Variant in an Intelligent, Nonmutilative Patient with Features of the Lesch-Nyhan Syndrome

3. Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene

4. Über familiäre gichtische Diathese in Verbindung mit zerebralen und renalen Symptomen bei einem Kleinkind1

5. Diagnosis and Treatment of the Lesch-Nyhan Syndrome

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1. Homogeneous luminescent quantitation of cellular guanosine and adenosine triphosphates (GTP and ATP) using QT-LucGTP&ATP assay;Analytical and Bioanalytical Chemistry;2023-09-16

2. Oral Self-Mutilation in Lesch-Nyhan Syndrome: A Case Report;Cureus;2022-08-11

3. Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis;Molecular Genetics and Metabolism;2022-07

4. Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients;Frontiers in Genetics;2022-04-26

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