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Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots

JIMD Reports, Volume 31, 2017-01, Vol.31, p.51-56

2017

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Adenosine Deaminase (ADA) Deficiency: Report of Six New Cases and Reappraisal of Cutaneous Hypermelanosis as an Early Feature

Journal of clinical immunology, 2022-11, Vol.42 (8), p.1618-1621

2022

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Urate nephropathy associated with impaired kinetic properties of hypoxanthine phosphoribosyl transferase in a 45-day-old infant

Clinical and experimental nephrology, 2012-02, Vol.16 (1), p.164-167

2012

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Inhibiting PNP for the therapy of hyperuricemia in Lesch–Nyhan disease: Preliminary in vitro studies with analogues of immucillin‐G

Journal of inherited metabolic disease, 2019-01, Vol.42 (1), p.178-185

2019

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Animal and cell models for Lesch-Nyhan syndrome

Drug discovery today. Disease models, 2020, Vol.31, p.45-57

2020

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Simple non-radiochemical HPLC-linked method for screening for purine metabolism disorders using dried blood spot

Clinica chimica acta, 2002-10, Vol.324 (1), p.135-139

2002

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Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: preliminary in vitro studies with analogues of immucillin-G

Journal of inherited metabolic disease, 2018-06, p.1-8

2018

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Thiol Disulfide Exchange Modulates the Activity of Aldose Reductase in Intact Bovine Lens as a Response to Oxidative Stress

Experimental eye research, 2000-06, Vol.70 (6), p.795-803

2000

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Identification of the Nucleotidase Responsible for the AMP Hydrolysing Hyperactivity Associated with Neurological and Developmental Disorders

Neurochemical research, 2008, Vol.33 (1), p.59-65

2008

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Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch–Nyhan disease)

Clinica chimica acta, 2006-11, Vol.373 (1), p.104-107

2006

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Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency

Clinical biochemistry, 2008-03, Vol.41 (4), p.350-352

2008

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Severe pyridine nucleotide depletion in fibroblasts from Lesch-Nyhan patients

Biochemical journal, 2002-08, Vol.366 (Pt 1), p.265-272

2002

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NAD metabolism in HPRT-deficient mice

Metabolic brain disease, 2009-06, Vol.24 (2), p.311-319

2009

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HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch-Nyhan disease

Biochimica et biophysica acta, 2006-01, Vol.1762 (1), p.29-33

2006

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Cytosolic 5′-nucleotidase hyperactivity in erythrocytes of Lesch–Nyhan syndrome patients

Neuroreport, 2000-06, Vol.11 (9), p.1827-1831

2000

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Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation

Clinical kidney journal, 2010-10, Vol.3 (5), p.436-438

2010

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Adenosine Deaminase (ADA) Deficiency: Report of Six New Cases and Reappraisal of Cutaneous Hypermelanosis as an Early Feature

Journal of clinical immunology, 2022, Vol.42 (8), p.1618-1621

2022

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HPRT Sardinia: a new point mutation causing HPRT deficiency without Lesch–Nyhan disease

Biochimica et biophysica acta. Molecular basis of disease, 2006, Vol.1762 (1), p.29-33

2006

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Biochemical and molecular study of mentally retarded patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase

Biochimica et biophysica acta, 2002-05, Vol.1587 (1), p.45-52

2002

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Thiopurine methyltransferase activity in the erythrocytes of adults and children: an HPLC-linked assay

Clinica chimica acta, 1997-03, Vol.259 (1), p.161-168

1997

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Saccharomyces Cerevisiae as a Tool to Evaluate the Effects of Herbicides on Eukaryotic Life

Braconi, Daniela

2011

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Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency

Clinical biochemistry, 2008, Vol.41 (4-5), p.350-352

2008

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5-Arylidene-2,4-thiazolidinediones as inhibitors of protein tyrosine phosphatases

Bioorganic & medicinal chemistry, 2007-08, Vol.15 (15), p.5137-5149

2007

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Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots

Adenosine Deaminase (ADA) Deficiency: Report of Six New Cases and Reappraisal of Cutaneous Hypermelanosis as an Early Feature

Urate nephropathy associated with impaired kinetic properties of hypoxanthine phosphoribosyl transferase in a 45-day-old infant

Inhibiting PNP for the therapy of hyperuricemia in Lesch–Nyhan disease: Preliminary in vitro studies with analogues of immucillin‐G

Animal and cell models for Lesch-Nyhan syndrome

Simple non-radiochemical HPLC-linked method for screening for purine metabolism disorders using dried blood spot

Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: preliminary in vitro studies with analogues of immucillin-G

Thiol Disulfide Exchange Modulates the Activity of Aldose Reductase in Intact Bovine Lens as a Response to Oxidative Stress

Identification of the Nucleotidase Responsible for the AMP Hydrolysing Hyperactivity Associated with Neurological and Developmental Disorders

Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch–Nyhan disease)

Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency

Severe pyridine nucleotide depletion in fibroblasts from Lesch-Nyhan patients

NAD metabolism in HPRT-deficient mice

HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch-Nyhan disease

Cytosolic 5′-nucleotidase hyperactivity in erythrocytes of Lesch–Nyhan syndrome patients

Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation

Adenosine Deaminase (ADA) Deficiency: Report of Six New Cases and Reappraisal of Cutaneous Hypermelanosis as an Early Feature

HPRT Sardinia: a new point mutation causing HPRT deficiency without Lesch–Nyhan disease

Biochemical and molecular study of mentally retarded patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase

Thiopurine methyltransferase activity in the erythrocytes of adults and children: an HPLC-linked assay

Saccharomyces Cerevisiae as a Tool to Evaluate the Effects of Herbicides on Eukaryotic Life

Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency

5-Arylidene-2,4-thiazolidinediones as inhibitors of protein tyrosine phosphatases

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