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Neuropediatrics, ISSN 0174-304X, 04/2015, Volume 46, Issue 2, pp. 123 - 125
Abstract Hereditary orotic aciduria is a rare metabolic disease that results from a defect of uridine-5-monophosphate synthase (UMPS). In affected patients,... 
Short Communication | epilepsy | UMPS-deficiency | hereditary orotic aciduria | PEDIATRICS | URIDINE | CLINICAL NEUROLOGY
Journal Article
Cell, ISSN 0092-8674, 04/2017, Volume 169, Issue 2, pp. 258 - 272.e17
Journal Article
Gene Reports, ISSN 2452-0144, 09/2019, Volume 16, p. 100457
Hereditary orotic aciduria is a rare autosomal recessive metabolic disorder, manifested by retarded growth, developmental delay and elevated levels of orotic... 
UMPS-deficiency | UMPS gene | Hereditary orotic aciduria | Whole Exome Sequencing
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2005, Volume 86, Issue 1, pp. 25 - 33
The disorders of purine and pyrimidine metabolism are unusual in their variety of clinical presentations and in the mechanisms by which these presentations... 
Hypoxanthine phosphoribosyl-transferase | Purine nucleoside phosphorylase | AICA riboside | Adenosine deaminase | Molybdenum cofactor | Pyrimidine nucleotidase depletion | Phosphoribosylpyrophosphate transferase | Xanthine oxidase | Myoadenylate deaminase | Orotic aciduria | Adenylosuccinate lyase | Adenine phosphoribosyltransferase | Pyrimidine catabolic deficiencies | MEDICINE, RESEARCH & EXPERIMENTAL | hypoxanthine phosphoribosyl-transferase | DIHYDROPYRIMIDINE DEHYDROGENASE | orotic aciduria | molybdenum cofactor | adenylosuccinate lyase | XANTHINE DEHYDROGENASE | adenine phosphoribosyltransferase | PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY | GENETICS & HEREDITY | MOLYBDENUM COFACTOR DEFICIENCY | ADENOSINE-DEAMINASE DEFICIENCY | xanthine oxidase | HEREDITARY OROTIC ACIDURIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | pyrimidine nucleotidase depletion | LESCH-NYHAN-SYNDROME | phosphoribosylpyrophosphate transferase | HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE | myoadenylate deaminase | adenosine deaminase | pyrimidine catabolic deficiencies | purine nucleoside phosphorylase | URIC-ACID | Purines - metabolism | Humans | Metabolism, Inborn Errors - physiopathology | Pyrimidines - metabolism | Oxidases | Adenosine | Molybdenum compounds | Ligases | Heterocyclic compounds | Analysis | Pyrimidine nucleotides | Physiological aspects | Molybdenum | Nucleotidases
Journal Article
ANTIVIRAL THERAPY, ISSN 1359-6535, 2007, Volume 12, Issue 1, pp. 97 - 105
Background: Highly active antiretroviral therapy (HAART) is associated with loss of subcutaneous fat (lipoatrophy) presumably due to mitochondrial toxicity of... 
MITOCHONDRIAL TOXICITY | CELLS | INFECTIOUS DISEASES | PROTEASE INHIBITORS | HIV-INFECTED PATIENTS | NUCLEOSIDE | REVERSE-TRANSCRIPTASE INHIBITORS | VIROLOGY | INSULIN-RESISTANCE | LIPODYSTROPHY | PHARMACOLOGY & PHARMACY | ROSIGLITAZONE | HEREDITARY OROTIC ACIDURIA
Journal Article
The Indian Journal of Pediatrics, ISSN 0019-5456, 10/2011, Volume 78, Issue 10, pp. 1293 - 1295
Journal Article
International Immunopharmacology, ISSN 1567-5769, 2007, Volume 7, Issue 8, pp. 1025 - 1032
Nucleosides like adenosine, uridine and their nucleotide derivatives (e.g. ATP and UTP) play important roles in many cellular functions, sometimes by acting as... 
Uridine | Tumour necrosis factor | Inflammation | Leukocytes | Sephadex | Asthma | CELLS | sephadex | ACTIN POLYMERIZATION | AIRWAY INFLAMMATION | IMMUNE-DEFICIENCY | asthma | IMMUNOLOGY | uridine | HUMAN EOSINOPHILS | inflammation | P2 PURINERGIC RECEPTORS | leukocytes | PHARMACOLOGY & PHARMACY | tumour necrosis factor | NEUTROPHIL DEGRANULATION | HEREDITARY OROTIC ACIDURIA | INDUCE CHEMOTAXIS | URACIL NUCLEOTIDES | Tumor Necrosis Factor-alpha - metabolism | Granuloma - prevention & control | Pneumonia - pathology | Pneumonia - prevention & control | Bronchoalveolar Lavage | Male | Microspheres | Pneumonia - chemically induced | Pulmonary Edema - prevention & control | Anti-Inflammatory Agents - administration & dosage | Leukocyte Count | Granuloma - chemically induced | Macrophages - immunology | Dextrans - toxicity | Disease Models, Animal | Macrophages - pathology | Anti-Inflammatory Agents - pharmacology | Rats | Rats, Sprague-Dawley | Uridine - pharmacology | Granuloma - pathology | Pulmonary Edema - chemically induced | Animals | Uridine - administration & dosage | Pulmonary Edema - immunology | Macrophages - drug effects | Intubation, Intratracheal | Dextrans - administration & dosage | Adenosine diphosphate | Anti-inflammatory drugs | Analysis | Medical and Health Sciences | Medicin och hälsovetenskap | MEDICIN | MEDICINE
Journal Article
by Wahn, U
Pediatric Allergy and Immunology, ISSN 0905-6157, 05/1995, Volume 6, Issue 2, pp. 71 - 79
Journal Article