Inborn errors of purine metabolism: clinical update and therapies

Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: A single-center experience and a review of the literature

(2014) Enke Grabhorn et al.   LIVER TRANSPLANTATION

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

(2014) Qing Zhou et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

(2014) Paulina Navon Elkan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Hereditary Renal Hypouricemia: A New Role for Allopurinol?

(2013) Bhavna Bhasin et al.   AMERICAN JOURNAL OF MEDICINE

Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

(2013) Rong Fu et al.   BRAIN

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone

(2013) A.J. Bleyer et al.   CLINICAL NEPHROLOGY

Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oralS-adenosyl-l-methionine as a treatment method

(2013) Michiel A van Werkhoven et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Inosine Triphosphate Pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects

(2013) Mazin A Zamzami et al.   Journal of Hematology & Oncology

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

(2013) Andrew Kirby et al.   NATURE GENETICS

Quantitative Evaluation of the Clinical Effects ofS-Adenosylmethionine on Mood and Behavior in Lesch-Nyhan Patients

(2013) Diego Dolcetta et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS

Gene therapy for ADA-SCID: defining the factors for successful outcome

(2012) H. B. Gaspar   BLOOD

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia

(2012) John H. Fargo et al.   BRITISH JOURNAL OF HAEMATOLOGY

First reported case of Omenn syndrome in a patient with reticular dysgenesis

(2012) Lauren A. Henderson et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy

(2012) Adam H. Buchaklian et al.   MOLECULAR GENETICS AND METABOLISM

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

(2012) Anna Köttgen et al.   NATURE GENETICS

Adenine phosphoribosyltransferase deficiency in children

(2012) Jérôme Harambat et al.   PEDIATRIC NEPHROLOGY

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

(2011) Magnus K. Bjursell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Macrophages in the Pathogenesis of Atherosclerosis

(2011) Kathryn J. Moore et al.   CELL

Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations

(2011) G. Bollee et al.   Clinical Journal of the American Society of Nephrology

Metabolic Network of Nucleosides in the Brain

(2011) Piero L. Ipata et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

The PRPP Synthetase Spectrum: What Does it Demonstrate About Nucleotide Syndromes?

(2011) John A. Duley et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

(2010) Arjan P.M. de Brouwer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Attenuated variants of Lesch-Nyhan disease

(2010) H. A. Jinnah et al.   BRAIN

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21

(2010) Sian E. Piret et al.   HUMAN GENETICS

Design and validation of a metabolic disorder resequencing microarray (BRUM1)

(2010) Christopher K. Bruce et al.   HUMAN MUTATION

The ribosomal basis of diamond-blackfan anemia: mutation and database update

(2010) Ilenia Boria et al.   HUMAN MUTATION

Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency

(2010) G. Bollee et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Monocytes in atherosclerosis: subsets and functions

(2010) Kevin J. Woollard et al.   Nature Reviews Cardiology

Adenylosuccinate Lyase Deficiency in the United Kingdom Pediatric Population: First Three Cases

(2010) Claire T. Lundy et al.   PEDIATRIC NEUROLOGY

Successful Treatment of Molybdenum Cofactor Deficiency Type A With cPMP

(2010) A. Veldman et al.   PEDIATRICS

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

(2009) Martina Živná et al.   AMERICAN JOURNAL OF HUMAN GENETICS

How I treat ADA deficiency

(2009) H. B. Gaspar et al.   BLOOD

Clinical and molecular features of mitochondrial DNA depletion syndromes

(2009) A. Spinazzola et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Inborn errors of purine and pyrimidine metabolism

(2009) A. Jurecka   JOURNAL OF INHERITED METABOLIC DISEASE

Inherited disorders in the conversion of methionine to homocysteine

(2009) Ivo Barić   JOURNAL OF INHERITED METABOLIC DISEASE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Pediatric neurological syndromes and inborn errors of purine metabolism

(2009) Marcella Camici et al.   NEUROCHEMISTRY INTERNATIONAL

Gene Therapy for Immunodeficiency Due to Adenosine Deaminase Deficiency

(2009) Alessandro Aiuti et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout

(2009) O. M. Woodward et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

(2008) D. P. Dimmock et al.   HUMAN MUTATION

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency

(2008) Agnieszka Jurecka et al.   MOLECULAR GENETICS AND METABOLISM

SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout

(2008) Veronique Vitart et al.   NATURE GENETICS

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

(2008) Chantal Lagresle-Peyrou et al.   NATURE GENETICS

Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2

(2008) Ulrich Pannicke et al.   NATURE GENETICS