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399 results

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Page 1
Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation.
Blasi P, Palmerio F, Caldarola S, Rizzo C, Carrozzo R, Gibson KM, Novelletto A, Deodato F, Cappa M, Dioni-Vici C, Malaspina P. Blasi P, et al. Among authors: cappa m. Clin Genet. 2006 Mar;69(3):294-6. doi: 10.1111/j.1399-0004.2006.00579.x. Clin Genet. 2006. PMID: 16542398 No abstract available.
A new multiplex method for the diagnosis of peroxisomal disorders allowing simultaneous determination of plasma very-long-chain fatty acids, phytanic, pristanic, docosahexaenoic and bile acids by high-performance liquid chromatography-atmospheric pressure chemical ionization-tandem mass spectrometry.
Semeraro M, Rizzo C, Boenzi S, Cappa M, Bertini E, Antonetti G, Dionisi-Vici C. Semeraro M, et al. Among authors: cappa m. Clin Chim Acta. 2016 Jul 1;458:159-64. doi: 10.1016/j.cca.2016.05.009. Epub 2016 May 14. Clin Chim Acta. 2016. PMID: 27189059
Glutathione imbalance in patients with X-linked adrenoleukodystrophy.
Petrillo S, Piemonte F, Pastore A, Tozzi G, Aiello C, Pujol A, Cappa M, Bertini E. Petrillo S, et al. Among authors: cappa m. Mol Genet Metab. 2013 Aug;109(4):366-70. doi: 10.1016/j.ymgme.2013.05.009. Epub 2013 May 22. Mol Genet Metab. 2013. PMID: 23768953 Free PMC article.
The response to gonadotropin releasing hormone (GnRH) stimulation test does not predict the progression to true precocious puberty in girls with onset of premature thelarche in the first three years of life.
Bizzarri C, Spadoni GL, Bottaro G, Montanari G, Giannone G, Cappa M, Cianfarani S. Bizzarri C, et al. Among authors: cappa m. J Clin Endocrinol Metab. 2014 Feb;99(2):433-9. doi: 10.1210/jc.2013-3292. Epub 2013 Dec 2. J Clin Endocrinol Metab. 2014. PMID: 24297793
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.
Zanni G, Kalscheuer VM, Friedrich A, Barresi S, Alfieri P, Di Capua M, Haas SA, Piccini G, Karl T, Klauck SM, Bellacchio E, Emma F, Cappa M, Bertini E, Breitenbach-Koller L. Zanni G, et al. Among authors: cappa m. Hum Mutat. 2015 Dec;36(12):1155-8. doi: 10.1002/humu.22860. Epub 2015 Sep 14. Hum Mutat. 2015. PMID: 26290468
An Incidental Finding of Bilateral Adrenal Lymphoma.
Cambiaso P, Bottaro G, Cianfarani S, Tomà P, Vito RD, Cappa M. Cambiaso P, et al. Among authors: cappa m. Am J Med Sci. 2016 Jul;352(1):80. doi: 10.1016/j.amjms.2016.02.018. Epub 2016 Feb 11. Am J Med Sci. 2016. PMID: 27432038 No abstract available.
399 results