Aciduria combinata malonica e metilmalonica (Italian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Aciduria combinata malonica e metilmalonica" in Italian language version.

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23doi.org

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(EN) Sara Tucci, Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria, in Orphanet Journal of Rare Diseases, vol. 15, n. 1, 2020-12, DOI:10.1186/s13023-020-1299-7. URL consultato il 18 luglio 2024.

bmj.com

jmg.bmj.com

(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

(EN) 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) Alina Levtova, Paula J. Waters e Daniela Buhas, Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort, in Journal of Inherited Metabolic Disease, vol. 42, n. 1, 2019-01, pp. 107–116, DOI:10.1002/jimd.12032.
(EN) Zeinab Wehbe, Sidney Behringer e Khaled Alatibi, The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism, in Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol. 1864, n. 11, 2019-11, pp. 1629–1643, DOI:10.1016/j.bbalip.2019.07.012.
(EN) NIH Intramural Sequencing Center Group, Jennifer L Sloan e Jennifer J Johnston, Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria, in Nature Genetics, vol. 43, n. 9, 2011-09, pp. 883–886, DOI:10.1038/ng.908.
(EN) Lisa C. Sniderman, Marie Lambert e Robert Giguère, Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program, in The Journal of Pediatrics, vol. 134, n. 6, 1999-06, pp. 675–680, DOI:10.1016/S0022-3476(99)70280-5.
(EN) Ping Wang, Jianbo Shu e Chunyu Gu, Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients, in Frontiers in Pediatrics, vol. 9, 25 novembre 2021, pp. 751895, DOI:10.3389/fped.2021.751895.
(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) A. R. Gregg, A. W. Warman e D. R. Thorburn, Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies, in Journal of Inherited Metabolic Disease, vol. 21, n. 4, 1998-06, pp. 382–390, DOI:10.1023/A:1005302607897.
(EN) Andrzej Witkowski, Jennifer Thweatt e Stuart Smith, Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis, in Journal of Biological Chemistry, vol. 286, n. 39, 2011-09, pp. 33729–33736, DOI:10.1074/jbc.M111.291591.
(EN) Joon Kee Lee e Arum Oh, Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report, in Journal of Korean Medical Science, vol. 38, n. 45, 2023, DOI:10.3346/jkms.2023.38.e387.
(EN) Caitlyn E. Bowman e Michael J. Wolfgang, Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism, in Advances in Biological Regulation, vol. 71, 2019-01, pp. 34–40, DOI:10.1016/j.jbior.2018.09.002.
(EN) Caitlyn E. Bowman, Susana Rodriguez e Ebru S. Selen Alpergin, The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency, in Cell Chemical Biology, vol. 24, n. 6, 2017-06, pp. 673–684.e4, DOI:10.1016/j.chembiol.2017.04.009.
(EN) Sara Tucci, Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria, in Orphanet Journal of Rare Diseases, vol. 15, n. 1, 2020-12, DOI:10.1186/s13023-020-1299-7. URL consultato il 18 luglio 2024.
(EN) Johannes A. Mayr, René G. Feichtinger e Frederic Tort, Lipoic acid biosynthesis defects, in Journal of Inherited Metabolic Disease, vol. 37, n. 4, 2014-07, pp. 553–563, DOI:10.1007/s10545-014-9705-8.
(EN) Geoffray Monteuuis, Fumi Suomi e Juha M. Kerätär, A conserved mammalian mitochondrial isoform of acetyl-CoA carboxylase ACC1 provides the malonyl-CoA essential for mitochondrial biogenesis in tandem with ACSF3, in Biochemical Journal, vol. 474, n. 22, 15 novembre 2017, pp. 3783–3797, DOI:10.1042/BCJ20170416.
(EN) G.N. Thompson, J.H. Walter e J.-L. Bresson, Sources of propionate in inborn errors of propionate metabolism, in Metabolism, vol. 39, n. 11, 1990-11, pp. 1133–1137, DOI:10.1016/0026-0495(90)90084-P.
(EN) Marwa Scharinger, Marcel Kuntz e Andreas Scharinger, Rapid Approach to Determine Propionic and Sorbic Acid Contents in Bread and Bakery Products Using 1H NMR Spectroscopy, in Foods, vol. 10, n. 3, 3 marzo 2021, pp. 526, DOI:10.3390/foods10030526.
(EN) T Yamamura, Y Okamoto e G Okada, Association of thalamic hyperactivity with treatment-resistant depression and poor response in early treatment for major depression: a resting-state fMRI study using fractional amplitude of low-frequency fluctuations, in Translational Psychiatry, vol. 6, n. 3, 8 marzo 2016, pp. e754–e754, DOI:10.1038/tp.2016.18.
(EN) B.A McLaughlin, D Nelson e I.A Silver, Methylmalonate toxicity in primary neuronal cultures, in Neuroscience, vol. 86, n. 1, 1998-05, pp. 279–290, DOI:10.1016/S0306-4522(97)00594-0.
(EN) S. Kölker, B. Ahlmeyer e J. Krieglstein, Methylmalonic acid induces excitotoxic neuronal damage in vitro, in Journal of Inherited Metabolic Disease, vol. 23, n. 4, 2000-06, pp. 355–358, DOI:10.1023/A:1005631230455.
(EN) Marie Cosette Gabriel, Stephanie M. Rice e Jennifer L. Sloan, Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria, in Molecular Genetics & Genomic Medicine, vol. 9, n. 4, 2021-04, pp. e1621, DOI:10.1002/mgg3.1621.
(EN) G. K. Brown, R. D. Scholem e A. Bankier, Malonyl coenzyme a decarboxylase deficiency, in Journal of Inherited Metabolic Disease, vol. 7, n. 1, 1984-03, pp. 21–26, DOI:10.1007/BF01805615.
(EN) P.T. Ozand, W.L. Nyhan e A. Al Aqeel, Malonic aciduria, in Brain and Development, vol. 16, 1994-11, pp. 7–11, DOI:10.1016/0387-7604(94)90091-4.

elsevier.com

linkinghub.elsevier.com

(EN) Zeinab Wehbe, Sidney Behringer e Khaled Alatibi, The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism, in Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol. 1864, n. 11, 2019-11, pp. 1629–1643, DOI:10.1016/j.bbalip.2019.07.012.
(EN) Lisa C. Sniderman, Marie Lambert e Robert Giguère, Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program, in The Journal of Pediatrics, vol. 134, n. 6, 1999-06, pp. 675–680, DOI:10.1016/S0022-3476(99)70280-5.
(EN) Andrzej Witkowski, Jennifer Thweatt e Stuart Smith, Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis, in Journal of Biological Chemistry, vol. 286, n. 39, 2011-09, pp. 33729–33736, DOI:10.1074/jbc.M111.291591.
(EN) Caitlyn E. Bowman e Michael J. Wolfgang, Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism, in Advances in Biological Regulation, vol. 71, 2019-01, pp. 34–40, DOI:10.1016/j.jbior.2018.09.002.
(EN) Caitlyn E. Bowman, Susana Rodriguez e Ebru S. Selen Alpergin, The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency, in Cell Chemical Biology, vol. 24, n. 6, 2017-06, pp. 673–684.e4, DOI:10.1016/j.chembiol.2017.04.009.
(EN) G.N. Thompson, J.H. Walter e J.-L. Bresson, Sources of propionate in inborn errors of propionate metabolism, in Metabolism, vol. 39, n. 11, 1990-11, pp. 1133–1137, DOI:10.1016/0026-0495(90)90084-P.
(EN) B.A McLaughlin, D Nelson e I.A Silver, Methylmalonate toxicity in primary neuronal cultures, in Neuroscience, vol. 86, n. 1, 1998-05, pp. 279–290, DOI:10.1016/S0306-4522(97)00594-0.
(EN) P.T. Ozand, W.L. Nyhan e A. Al Aqeel, Malonic aciduria, in Brain and Development, vol. 16, 1994-11, pp. 7–11, DOI:10.1016/0387-7604(94)90091-4.

frontiersin.org

(EN) Ping Wang, Jianbo Shu e Chunyu Gu, Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients, in Frontiers in Pediatrics, vol. 9, 25 novembre 2021, pp. 751895, DOI:10.3389/fped.2021.751895.

jkms.org

(EN) Joon Kee Lee e Arum Oh, Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report, in Journal of Korean Medical Science, vol. 38, n. 45, 2023, DOI:10.3346/jkms.2023.38.e387.

mayocliniclabs.com

"Targeted Genes and Methodology Details for Methylmalonic Aciduria Gene Panel", su mayocliniclabs.com. URL consultato il 2ß24-05-16.

mdpi.com

(EN) Marwa Scharinger, Marcel Kuntz e Andreas Scharinger, Rapid Approach to Determine Propionic and Sorbic Acid Contents in Bread and Bakery Products Using 1H NMR Spectroscopy, in Foods, vol. 10, n. 3, 3 marzo 2021, pp. 526, DOI:10.3390/foods10030526.

nature.com

(EN) NIH Intramural Sequencing Center Group, Jennifer L Sloan e Jennifer J Johnston, Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria, in Nature Genetics, vol. 43, n. 9, 2011-09, pp. 883–886, DOI:10.1038/ng.908.
(EN) T Yamamura, Y Okamoto e G Okada, Association of thalamic hyperactivity with treatment-resistant depression and poor response in early treatment for major depression: a resting-state fMRI study using fractional amplitude of low-frequency fluctuations, in Translational Psychiatry, vol. 6, n. 3, 8 marzo 2016, pp. e754–e754, DOI:10.1038/tp.2016.18.

nih.gov

pubmed.ncbi.nlm.nih.gov

(EN) Marie Cosette Gabriel, Stephanie M. Rice e Jennifer L. Sloan, Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria, in Molecular Genetics & Genomic Medicine, vol. 9, n. 4, 2021-04, pp. e1621, DOI:10.1002/mgg3.1621.

ncbi.nlm.nih.gov

Combined malonic and methylmalonic acidemia, su www.ncbi.nlm.nih.gov. URL consultato il 20 aprile 2024.

omim.org

COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA, su omim.org. URL consultato il 20 aprile 2024.

portlandpress.com

(EN) Geoffray Monteuuis, Fumi Suomi e Juha M. Kerätär, A conserved mammalian mitochondrial isoform of acetyl-CoA carboxylase ACC1 provides the malonyl-CoA essential for mitochondrial biogenesis in tandem with ACSF3, in Biochemical Journal, vol. 474, n. 22, 15 novembre 2017, pp. 3783–3797, DOI:10.1042/BCJ20170416.

springer.com

link.springer.com

(EN) 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.

web.archive.org

Blood and Urine Screening in Newborns | Gouvernement du Québec, su www.quebec.ca. URL consultato il 15 giugno 2022 (archiviato dall'url originale il 23 maggio 2022).

wiley.com

onlinelibrary.wiley.com

(EN) Alina Levtova, Paula J. Waters e Daniela Buhas, Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort, in Journal of Inherited Metabolic Disease, vol. 42, n. 1, 2019-01, pp. 107–116, DOI:10.1002/jimd.12032.
(EN) Johannes A. Mayr, René G. Feichtinger e Frederic Tort, Lipoic acid biosynthesis defects, in Journal of Inherited Metabolic Disease, vol. 37, n. 4, 2014-07, pp. 553–563, DOI:10.1007/s10545-014-9705-8.
(EN) S. Kölker, B. Ahlmeyer e J. Krieglstein, Methylmalonic acid induces excitotoxic neuronal damage in vitro, in Journal of Inherited Metabolic Disease, vol. 23, n. 4, 2000-06, pp. 355–358, DOI:10.1023/A:1005631230455.
(EN) G. K. Brown, R. D. Scholem e A. Bankier, Malonyl coenzyme a decarboxylase deficiency, in Journal of Inherited Metabolic Disease, vol. 7, n. 1, 1984-03, pp. 21–26, DOI:10.1007/BF01805615.

doi.wiley.com

(EN) A. R. Gregg, A. W. Warman e D. R. Thorburn, Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies, in Journal of Inherited Metabolic Disease, vol. 21, n. 4, 1998-06, pp. 382–390, DOI:10.1023/A:1005302607897.