E. Escuredo

发表

Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients

H. Jinnah, L. Fairbanks, L. Laróvere, 2021, Journal of Inborn Errors of Metabolism and Screening.

Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase).

C. Lewis, J. Sanderson, J. Duley, 2004, Pharmacogenetics.

Genetic determinants of the thiopurine methyltransferase intermediate activity phenotype in British Asians and Caucasians

C. Lewis, J. Sanderson, J. Duley, 2003 .

An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency

L. Fairbanks, A. Marinaki, M. Arenas, 2009, Journal of Inherited Metabolic Disease.

Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency.

E. Harley, H. Simmonds, G. Magni, 2001, Blood.

deficiency nucleotidase ' Genetic basis of hemolytic anemia caused by pyrimidine 5

E. Harley, H. Simmonds, G. Magni, 2013 .

Purine Nucleoside Phosphorylase Deficiency: A Mutation Update

L. Fairbanks, A. Marinaki, M. Arenas, 2011, Nucleosides, nucleotides & nucleic acids.

The impact of introducing thioguanine nucleotide monitoring into an inflammatory bowel disease clinic

J. Sanderson, P. Irving, J. Sanderson, 2013, International journal of clinical practice.

Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey

M. Sheaff, M. Almond, T. Marinaki, 2016, Clinical kidney journal.

HPRT Deficiency: Identification of Twenty-Four Novel Variants Including an Unusual Deep Intronic Mutation

L. Fairbanks, A. Marinaki, M. Arenas, 2011, Nucleosides, nucleotides & nucleic acids.

Genetic variation in the MTHFR gene influences thiopurine methyltransferase activity.

C. Lewis, J. Sanderson, J. Duley, 2005, Clinical chemistry.

Genetic Variation in the MTHFR Gene Influences Thio- purine Methyltransferase Activity, Monica Arenas, 1

C. Lewis, J. Sanderson, United Kingdom., 2005 .

The Genetic Basis of the Interaction Between Pyrimidine 5′ Nucleotidase I Deficiency and Hemoglobin E

S. Thein, J. Duley, D. Rees, 2004, Nucleosides, nucleotides & nucleic acids.

Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency.

E. Escuredo, A. M. Marinaki, David C. Rees, 2001, Blood.