Acidemia metilmalonica (Italian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Acidemia metilmalonica" in Italian language version.

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1liebertpub.com

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bmj.com

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(EN) A. Alfares, L. D. Nunez e K. Al-Thihli, Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype, in Journal of Medical Genetics, vol. 48, n. 9, 1º settembre 2011, pp. 602–605, DOI:10.1136/jmedgenet-2011-100230.

doi.org

dx.doi.org

Monique G. M. de Sain-van der Velden, Maria van der Ham e Judith J. Jans, A New Approach for Fast Metabolic Diagnostics in CMAMMA, vol. 30, Springer Berlin Heidelberg, 2016, pp. 15–22, DOI:10.1007/8904_2016_531, ISBN 978-3-662-53680-3.
(EN) A. Alfares, L. D. Nunez e K. Al-Thihli, Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype, in Journal of Medical Genetics, vol. 48, n. 9, 1º settembre 2011, pp. 602–605, DOI:10.1136/jmedgenet-2011-100230.
(EN) M Dewit, I Decoo e E Verbeek, Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency, in Molecular Genetics and Metabolism, vol. 87, n. 2, 2006-02, pp. 102–106, DOI:10.1016/j.ymgme.2005.09.009.
(EN) Ding An, Jessica L. Schneller e Andrea Frassetto, Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia, in Cell Reports, vol. 21, n. 12, 2017-12, pp. 3548–3558, DOI:10.1016/j.celrep.2017.11.081.
(EN) Paolo G.V. Martini e Lin T. Guey, A New Era for Rare Genetic Diseases: Messenger RNA Therapy, in Human Gene Therapy, vol. 30, n. 10, 1º ottobre 2019, pp. 1180–1189, DOI:10.1089/hum.2019.090.

elsevier.com

linkinghub.elsevier.com

(EN) M Dewit, I Decoo e E Verbeek, Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency, in Molecular Genetics and Metabolism, vol. 87, n. 2, 2006-02, pp. 102–106, DOI:10.1016/j.ymgme.2005.09.009.
(EN) Ding An, Jessica L. Schneller e Andrea Frassetto, Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia, in Cell Reports, vol. 21, n. 12, 2017-12, pp. 3548–3558, DOI:10.1016/j.celrep.2017.11.081.

liebertpub.com

(EN) Paolo G.V. Martini e Lin T. Guey, A New Era for Rare Genetic Diseases: Messenger RNA Therapy, in Human Gene Therapy, vol. 30, n. 10, 1º ottobre 2019, pp. 1180–1189, DOI:10.1089/hum.2019.090.

modernatx.com

trials.modernatx.com

A Clinical Trial of a Methylmalonic Acidemia (MMA) Due to MUT Deficiency Treatment for Children and Adults, su trials.modernatx.com. URL consultato il 31 dicembre 2023.

springer.com

link.springer.com

Monique G. M. de Sain-van der Velden, Maria van der Ham e Judith J. Jans, A New Approach for Fast Metabolic Diagnostics in CMAMMA, vol. 30, Springer Berlin Heidelberg, 2016, pp. 15–22, DOI:10.1007/8904_2016_531, ISBN 978-3-662-53680-3.