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Results for

""Purine-Pyrimidine Metabolism, Inborn Errors""[mesh_terms]

9 Results

Searching titles within these results

Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.

M Castro, R Carrillo, F García, P Sanz, I Ferrer, P Ruiz-Sala, A I Vega, L Ruíz Desviat, B Pérez, C Pérez-Cerdá, B Merinero, M Ugarte

Nucleosides, nucleotides & nucleic acids 2015;33(4-6):233-40

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Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.

Agnieszka Jurecka, Marie Zikanova, Elżbieta Jurkiewicz, Anna Tylki-Szymańska

Neuropediatrics 2014;45(1):50-5

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Impact of NUDT15 polymorphisms on thiopurines-induced myelotoxicity and thiopurines tolerance dose.

Hong Wang, Dandan Yin, Xuyang Xia, Junlong Zhang, Shouyue Zhang, Fei Liao, Ge Zhang, Yan Zhang, Qianqian Hou, Xue Yang, Zhigui Ma, Heyao Wang, Yiping Zhu, Wei Zhang, Yuelan Wang, Bo Liu, Lanlan Wang, Heng Xu, Yang Shu

Oncotarget 2017;8(8):13575-13585

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Nephrolithiasis related to inborn metabolic diseases.

Pierre Cochat, Valérie Pichault, Justine Bacchetta, Laurence Dubourg, Jean-François Sabot, Christine Saban, Michel Daudon, Aurélia Liutkus

Pediatric nephrology (Berlin, Germany) 2010;25(3):415-24

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Uric acid changes in urine and plasma: an effective tool in screening for purine inborn errors of metabolism and other pathological conditions.

M L Costa de Oliveira, C P H Oliveira, F B Scalco, L N L Ferreira Gomes, R E Simoni, F R Aquino Neto

Journal of inherited metabolic disease 2007;30(3):295-309

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Micellar electrokinetic chromatographic and capillary zone electrophoretic methods for screening urinary biomarkers of human disorders: a critical review of the state-of-the-art.

Begona Casado, Simona Viglio, Chiara Zanone, James Baraniuk, Laura Annovazzi, Maurizio Luisetti, Giuseppe Cetta, Paolo Iadarola

Electrophoresis 2005;26(4-5):752-766

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A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.

Bo-Yun Yang, Han-Xiao Yu, Jie Min, Xiao-Xiao Song

Clinical rheumatology 2021;39(3):949-956

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Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine.

Masafumi Matsuo, Tomiko Kuhara, Akihito Ishida, Morimasa Ohse

Journal of mass spectrometry : JMS 2002;37(9):954-62

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Immunizations for patients with metabolic disorders.

Jeffrey D Kingsley, Meera Varman, Archana Chatterjee, Rae A Kingsley, Karl S Roth

Pediatrics 2006;118(2):e460-70

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Results for ""Purine-Pyrimidine Metabolism, Inborn Errors""[mesh_terms]

Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.

Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.

Impact of NUDT15 polymorphisms on thiopurines-induced myelotoxicity and thiopurines tolerance dose.

Nephrolithiasis related to inborn metabolic diseases.

Uric acid changes in urine and plasma: an effective tool in screening for purine inborn errors of metabolism and other pathological conditions.

Micellar electrokinetic chromatographic and capillary zone electrophoretic methods for screening urinary biomarkers of human disorders: a critical review of the state-of-the-art.

A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.

Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine.

Immunizations for patients with metabolic disorders.

Results for

""Purine-Pyrimidine Metabolism, Inborn Errors""[mesh_terms]