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Research Output 1984 2019

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Review article
2019
Hyperargininemia
Ornithine-Oxo-Acid Transaminase
Hereditary Spastic Paraplegia
Inborn Errors Metabolism
Urea

Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision

Häberle, J., Burlina, A., Chakrapani, A., Dixon, M., Karall, D., Lindner, M., Mandel, H., Martinelli, D., Pintos-Morell, G., Santer, R., Skouma, A., Servais, A., Tal, G., Rubio, V., Huemer, M. & Dionisi-Vici, C., Apr 14 2019, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalReview article

Inborn Urea Cycle Disorder
Guidelines
Hyperammonemia
Consensus
Inborn Genetic Diseases
2018

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

Wasserstein, M., Dionisi-Vici, C., Giugliani, R., Hwu, W-L., Lidove, O., Lukacs, Z., Mengel, E., Mistry, P. K., Schuchman, E. H. & McGovern, M., Nov 29 2018, In : Molecular Genetics and Metabolism. 8 p.

Research output: Contribution to journalReview article

Type A Niemann-Pick Disease
Sphingomyelin Phosphodiesterase
Physiologic Monitoring
Acids
Monitoring
2017

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update

Patterson, M. C., Clayton, P., Gissen, P., Anheim, M., Bauer, P., Bonnot, O., Dardis, A., Dionisi-Vici, C., Klünemann, H-H., Latour, P., Lourenço, C. M., Ory, D. S., Parker, A., Pocoví, M., Strupp, M., Vanier, M. T., Walterfang, M. & Marquardt, T., Dec 2017, In : Neurology: Clinical Practice. 7, 6, p. 499-511 13 p.

Research output: Contribution to journalReview article

Type C Niemann-Pick Disease
Psychiatry
Biomarkers
Filipin
Routine Diagnostic Tests