| review article | Q7318358 |
| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1011592750 |
| P356 | DOI | 10.1023/A:1005360907238 |
| P953 | full work available at URL | https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1023%2FA%3A1005360907238 |
| https://onlinelibrary.wiley.com/doi/pdf/10.1023/A%3A1005360907238 | ||
| P698 | PubMed publication ID | 9211195 |
| P2093 | author name string | L. Dorland | |
| M. Duran | |||
| R. Berger | |||
| E. E. Meuleman | |||
| P. Allers | |||
| P2860 | cites work | Urine test for adenylosuccinase deficiency in autistic children | Q28256076 |
| An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids | Q28261748 | ||
| Xanthinuria, an inborn error (or deviation) of metabolism | Q34233860 | ||
| Urinary excretion of thymine and uracil in a two-year-old child with a malignant tumor of the brain | Q40599865 | ||
| Abnormal serum uric acid levels in children | Q40997371 | ||
| Inborn errors of the purine nucleotide cycle: Adenylosuccinase deficiency | Q41521412 | ||
| When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications | Q41521428 | ||
| Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism | Q42250456 | ||
| Liquid-chromatographic study of purine metabolism abnormalities in purine nucleoside phosphorylase deficiency | Q42557020 | ||
| Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis | Q50307550 | ||
| Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase. | Q52097025 | ||
| Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay. | Q52228838 | ||
| URINE TEST FOR ADENYLOSUCCINASE DEFICIENCY IN AUTISTIC CHILDREN | Q56567664 | ||
| Simple method of measurement of orotic acid and orotidine in urine | Q62125385 | ||
| Urinary excretion of methylated purines in man and in the rat after the administration of theophylline | Q67030423 | ||
| Dihydropyrimidinuria | Q68157126 | ||
| Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines | Q69543378 | ||
| A new case of purine nucleoside phosphorylase deficiency: enzymologic, clinical, and immunologic characteristics | Q70329570 | ||
| Rapid, high-resolution, two-dimensional amino acid chromatography on micro scale chromatograms | Q72417818 | ||
| Group tests for selective screening of inborn errors of metabolism | Q72797425 | ||
| 1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism | Q73613976 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 227-236 | |
| P577 | publication date | 1997-06-01 | |
| P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
| P1476 | title | Inherited defects of purine and pyrimidine metabolism: laboratory methods for diagnosis | |
| Inherited defects of purine and pyrimidine metabolism: Laboratory methods for diagnosis | |||
| P478 | volume | 20 |
| Q35008861 | Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry |
| Q42547285 | Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation? |
| Q78169896 | Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency |
| Q37416449 | Inborn errors of purine and pyrimidine metabolism. |
| Q54341718 | Inborn errors of purine metabolism: clinical update and therapies. |
| Q28244040 | Inborn errors of pyrimidine metabolism: clinical update and therapy |
| Q35163371 | New anthropometry-based age- and sex-specific reference values for urinary 24-hour creatinine excretion based on the adult Swiss population |
| Q46766516 | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure |
| Q43910254 | Screening method for inherited disorders of purine and pyrimidine metabolism by capillary electrophoresis with reversed electroosmotic flow |
| Q74006391 | The application of HPLC/ESI tandem mass spectrometry on urine-soaked filter-paper strips for the screening of disorders of purine and pyrimidine metabolism |
| Q36829598 | Uric acid changes in urine and plasma: an effective tool in screening for purine inborn errors of metabolism and other pathological conditions. |
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