Kombinált malon- és metilmalonsav-acidémia (Hungarian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Kombinált malon- és metilmalonsav-acidémia" in Hungarian language version.

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9doi.org

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5worldcat.org

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4nih.gov

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3elsevier.com

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3wiley.com

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1springer.com

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1nature.com

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1frontiersin.org

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1bmj.com

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bmj.com

jmg.bmj.com

Alfares, A., K. (2011. szeptember 1.). „Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype” (angol nyelven). Journal of Medical Genetics 48 (9), 602–605. o. DOI:10.1136/jmedgenet-2011-100230. ISSN 0022-2593.

doi.org

dx.doi.org

NIH Intramural Sequencing Center Group, Jennifer J (2011. szeptember 1.). „Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria” (angol nyelven). Nature Genetics 43 (9), 883–886. o. DOI:10.1038/ng.908. ISSN 1061-4036. PMID 21841779.
Sniderman, Lisa C., Robert (1999. június 1.). „Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program” (angol nyelven). The Journal of Pediatrics 134 (6), 675–680. o. DOI:10.1016/S0022-3476(99)70280-5.
Wang, Ping, Chunyu (2021. november 25.). „Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients”. Frontiers in Pediatrics 9, 751895. o. DOI:10.3389/fped.2021.751895. ISSN 2296-2360. PMID 34900860.
Alfares, A., K. (2011. szeptember 1.). „Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype” (angol nyelven). Journal of Medical Genetics 48 (9), 602–605. o. DOI:10.1136/jmedgenet-2011-100230. ISSN 0022-2593.
Wehbe, Zeinab, Khaled (2019. november 1.). „The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism” (angol nyelven). Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1864 (11), 1629–1643. o. DOI:10.1016/j.bbalip.2019.07.012.
Levtova, Alina, Daniela (2019. január 1.). „Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort” (angol nyelven). Journal of Inherited Metabolic Disease 42 (1), 107–116. o. DOI:10.1002/jimd.12032. ISSN 0141-8955.
Gregg, A. R., D. R. (1998. június 1.). „Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies” (angol nyelven). Journal of Inherited Metabolic Disease 21 (4), 382–390. o. DOI:10.1023/A:1005302607897.
Witkowski, Andrzej, Stuart (2011. szeptember 1.). „Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis” (angol nyelven). Journal of Biological Chemistry 286 (39), 33729–33736. o. DOI:10.1074/jbc.M111.291591. PMID 21846720.
Gabriel, Marie Cosette, Jennifer L. (2021. április 1.). „Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria” (angol nyelven). Molecular Genetics & Genomic Medicine 9 (4). DOI:10.1002/mgg3.1621. ISSN 2324-9269. PMID 33625768.

elsevier.com

linkinghub.elsevier.com

Sniderman, Lisa C., Robert (1999. június 1.). „Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program” (angol nyelven). The Journal of Pediatrics 134 (6), 675–680. o. DOI:10.1016/S0022-3476(99)70280-5.
Wehbe, Zeinab, Khaled (2019. november 1.). „The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism” (angol nyelven). Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1864 (11), 1629–1643. o. DOI:10.1016/j.bbalip.2019.07.012.
Witkowski, Andrzej, Stuart (2011. szeptember 1.). „Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis” (angol nyelven). Journal of Biological Chemistry 286 (39), 33729–33736. o. DOI:10.1074/jbc.M111.291591. PMID 21846720.

frontiersin.org

Wang, Ping, Chunyu (2021. november 25.). „Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients”. Frontiers in Pediatrics 9, 751895. o. DOI:10.3389/fped.2021.751895. ISSN 2296-2360. PMID 34900860.

nature.com

NIH Intramural Sequencing Center Group, Jennifer J (2011. szeptember 1.). „Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria” (angol nyelven). Nature Genetics 43 (9), 883–886. o. DOI:10.1038/ng.908. ISSN 1061-4036. PMID 21841779.

nih.gov

pubmed.ncbi.nlm.nih.gov

NIH Intramural Sequencing Center Group, Jennifer J (2011. szeptember 1.). „Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria” (angol nyelven). Nature Genetics 43 (9), 883–886. o. DOI:10.1038/ng.908. ISSN 1061-4036. PMID 21841779.
Wang, Ping, Chunyu (2021. november 25.). „Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients”. Frontiers in Pediatrics 9, 751895. o. DOI:10.3389/fped.2021.751895. ISSN 2296-2360. PMID 34900860.
Witkowski, Andrzej, Stuart (2011. szeptember 1.). „Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis” (angol nyelven). Journal of Biological Chemistry 286 (39), 33729–33736. o. DOI:10.1074/jbc.M111.291591. PMID 21846720.
Gabriel, Marie Cosette, Jennifer L. (2021. április 1.). „Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria” (angol nyelven). Molecular Genetics & Genomic Medicine 9 (4). DOI:10.1002/mgg3.1621. ISSN 2324-9269. PMID 33625768.

springer.com

link.springer.com

Monique G. M. de Sain-van der Velden – Maria van der Ham – Judith J. Jans: A New Approach for Fast Metabolic Diagnostics in CMAMMA. 2016. 15–22. o. (sorozatszám?) ISBN 978-3-662-53680-3 Hozzáférés: 2022. augusztus 14. sorozatszám sorozat nélkül,

wiley.com

onlinelibrary.wiley.com

Levtova, Alina, Daniela (2019. január 1.). „Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort” (angol nyelven). Journal of Inherited Metabolic Disease 42 (1), 107–116. o. DOI:10.1002/jimd.12032. ISSN 0141-8955.
Gabriel, Marie Cosette, Jennifer L. (2021. április 1.). „Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria” (angol nyelven). Molecular Genetics & Genomic Medicine 9 (4). DOI:10.1002/mgg3.1621. ISSN 2324-9269. PMID 33625768.

doi.wiley.com

Gregg, A. R., D. R. (1998. június 1.). „Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies” (angol nyelven). Journal of Inherited Metabolic Disease 21 (4), 382–390. o. DOI:10.1023/A:1005302607897.

worldcat.org

NIH Intramural Sequencing Center Group, Jennifer J (2011. szeptember 1.). „Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria” (angol nyelven). Nature Genetics 43 (9), 883–886. o. DOI:10.1038/ng.908. ISSN 1061-4036. PMID 21841779.
Wang, Ping, Chunyu (2021. november 25.). „Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients”. Frontiers in Pediatrics 9, 751895. o. DOI:10.3389/fped.2021.751895. ISSN 2296-2360. PMID 34900860.
Alfares, A., K. (2011. szeptember 1.). „Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype” (angol nyelven). Journal of Medical Genetics 48 (9), 602–605. o. DOI:10.1136/jmedgenet-2011-100230. ISSN 0022-2593.
Levtova, Alina, Daniela (2019. január 1.). „Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort” (angol nyelven). Journal of Inherited Metabolic Disease 42 (1), 107–116. o. DOI:10.1002/jimd.12032. ISSN 0141-8955.
Gabriel, Marie Cosette, Jennifer L. (2021. április 1.). „Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria” (angol nyelven). Molecular Genetics & Genomic Medicine 9 (4). DOI:10.1002/mgg3.1621. ISSN 2324-9269. PMID 33625768.