Inborn errors of pyrimidine metabolism: clinical update and therapy

Clinical Pharmacogenetics Implementation Consortium Guidelines for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing

(2013) K E Caudle et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

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

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement

(2013) B. E. Bax et al.   NEUROLOGY

ß-Ureidopropionase deficiency: Phenotype, genotype and protein structural consequences in 16 patients

(2012) André B.P. van Kuilenburg et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome

(2012) Seyed Alireza Mahdaviani et al.   Expert Review of Clinical Immunology

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

(2012) J. Rainger et al.   HUMAN MOLECULAR GENETICS

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

(2012) Massimiliano Filosto et al.   JOURNAL OF NEUROLOGY

Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE

(2011) J Torres-Torronteras et al.   GENE THERAPY

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

(2011) H. Tyynismaa et al.   HUMAN MOLECULAR GENETICS

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients

(2010) André B.P. van Kuilenburg et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach

(2010) J Halter et al.   BONE MARROW TRANSPLANTATION

Dihydroorotate dehydrogenase polymorphism influences the toxicity of leflunomide treatment in patients with rheumatoid arthritis

(2009) P B. Grabar et al.   ANNALS OF THE RHEUMATIC DISEASES

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)

(2009) André B. P. van Kuilenburg et al.   HUMAN GENETICS

Orotic aciduria and uridine monophosphate synthase: A reappraisal

(2009) C. J. Bailey   JOURNAL OF INHERITED METABOLIC DISEASE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

The effect of exon (19C>A) dihydroorotate dehydrogenase gene polymorphism on rheumatoid arthritis treatment with leflunomide

(2009) Andrzej Pawlik et al.   PHARMACOGENOMICS

Inhibiting the Teratogenicity of the Immunosuppressant Leflunomide in Mice by Supplementation of Exogenous Uridine

(2009) Ryou Fukushima et al.   TOXICOLOGICAL SCIENCES

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

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

Genetic regulation of ??-ureidopropionase and its possible implication in altered uracil catabolism

(2008) Holly R. Thomas et al.   Pharmacogenetics and Genomics