(Q46847611)

25 December 2017

title

Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease (English)

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25 December 2017

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7

Oded Sperling

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25 December 2017

Choni Rinat

1

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25 December 2017

Esther Zoref-Shani

2

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25 December 2017

Ziva Ben-Neriah

3

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25 December 2017

Yael Bromberg

4

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25 December 2017

Rachel Becker-Cohen

5

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25 December 2017

Sofia Feinstein

6

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25 December 2017

Yaacov Frishberg

8

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25 December 2017

publication date

15 December 2005

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25 December 2017

Molecular Genetics and Metabolism

published in

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25 December 2017

volume

87

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25 December 2017

issue

3

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25 December 2017

page(s)

249-252

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25 December 2017

A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION

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The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases

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Fine structure of the human hypoxanthine phosphoribosyltransferase gene

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The organization of the human HPRT gene

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Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient

7 January 2021

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Molecular analysis of a female Lesch-Nyhan patient

7 January 2021

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An unexpected affected female patient in a classical Lesch-Nyhan family

7 January 2021

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Molecular Mechanisms of the Second Female Lesch-Nyhan Patient

7 January 2021

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Lesch-Nyhan disease in a female with a clinically normal monozygotic twin

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Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts

7 January 2021

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Developmental changes in the activity of enzymes of purine metabolism in rat neuronal cells in culture and in whole brain

7 January 2021

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Abnormal purine and pyrimidine nucleotide content in primary astroglia cultures from hypoxanthine-guanine phosphoribosyltransferase-deficient transgenic mice

7 January 2021

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Expression of the insulin-like growth factors and their receptors in term placentas: a comparison between normal and IUGR births

7 January 2021

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CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization

7 January 2021

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7 January 2021

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inferred from DOI database lookup

7 January 2021

based on heuristic

X-inactivation pattern in three cases of X/autosome translocation

1 reference

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10.1016/J.YMGME.2005.09.025

7 January 2021

Identifiers

DOI

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25 December 2017

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25 December 2017