Methylmalonazidurie (German Wikipedia)

Analysis of information sources in references of the Wikipedia article "Methylmalonazidurie" in German language version.

refsWebsite
Global rank German rank
2nd place
3rd place
3,537th place
429th place
123rd place
6th place
4th place
7th place
222nd place
272nd place
610th place
521st place
1,581st place
low place
2,374th place
1,391st place
9,308th place
low place
4,380th place
781st place
5,225th place
2,461st place
2,747th place
1,415th place
5,181st place
low place
234th place
203rd place
low place
low place
low place
low place
1,592nd place
2,812th place
719th place
1,553rd place
low place
low place
low place
low place
low place
low place
low place
low place
low place
low place
6,663rd place
4,062nd place
1,226th place
1,116th place

arizona.edu

biology.arizona.edu

aspetjournals.org

jpet.aspetjournals.org

biomedcentral.com

ojrd.biomedcentral.com

  • Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, Kimberly A Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C Grünert, Stephanie Grünewald, Tomas Honzik, Begoña Merinero, Celia Pérez-Cerdá, Sabine Scholl-Bürgi, Flemming Skovby, Frits Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani: Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. In: Orphanet Journal of Rare Diseases. Band 9, Nr. 1, Dezember 2014, ISSN 1750-1172, doi:10.1186/s13023-014-0130-8, PMID 25205257, PMC 4180313 (freier Volltext) – (biomedcentral.com).

bmcpediatr.biomedcentral.com

  • Katarína Brennerová, Martina Škopková, Mária Ostrožlíková, Jana Šaligová, Juraj Staník, Vladimír Bzdúch, Daniela Gašperíková: Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report. In: BMC Pediatrics. Band 21, Nr. 1, Dezember 2021, ISSN 1471-2431, doi:10.1186/s12887-021-03067-3, PMID 34915869, PMC 8675494 (freier Volltext) – (biomedcentral.com).

bmj.com

adc.bmj.com

  • V. G. Oberholzer, B. Levin, E. A. Burgess, W. F. Young: Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. In: Archives of Disease in Childhood. Band 42, Nr. 225, 1. Oktober 1967, ISSN 0003-9888, S. 492–504, doi:10.1136/adc.42.225.492, PMID 6061291, PMC 2019805 (freier Volltext) – (bmj.com [abgerufen am 16. Juni 2024]).

clinicaltrials.gov

doi.org

  • Guglielmo RD Villani, Giovanna Gallo, Emanuela Scolamiero, Francesco Salvatore, Margherita Ruoppolo: “Classical organic acidurias”: diagnosis and pathogenesis. In: Clinical and Experimental Medicine. Band 17, Nr. 3, August 2017, ISSN 1591-8890, S. 305–323, doi:10.1007/s10238-016-0435-0, PMID 27613073.
  • Suzanne M. Matsui, Maurice J. Mahoney, Leon E. Rosenberg: The Natural History of the Inherited Methylmalonic Acidemias. In: New England Journal of Medicine. Band 308, Nr. 15, 14. April 1983, ISSN 0028-4793, S. 857–861, doi:10.1056/NEJM198304143081501, PMID 6132336 (englisch, nejm.org).
  • Stefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, Allan M. Lund, Alberto B. Burlina, Jolanta Sykut‐Cegielska, Frits A. Wijburg, Elisa Leão Teles, Jiri Zeman, Carlo Dionisi‐Vici, Ivo Barić, Daniela Karall, Persephone Augoustides‐Savvopoulou, Lise Aksglaede, Jean‐Baptiste Arnoux, Paula Avram, Matthias R. Baumgartner, Javier Blasco‐Alonso, Brigitte Chabrol, Anupam Chakrapani, Kimberly Chapman, Elisenda Cortès i Saladelafont, Maria L. Couce, Linda de Meirleir, Dries Dobbelaere, Veronika Dvorakova, Francesca Furlan, Florian Gleich, Wanda Gradowska, Stephanie Grünewald, Anil Jalan, Johannes Häberle, Gisela Haege, Robin Lachmann, Alexander Laemmle, Eveline Langereis, Pascale de Lonlay, Diego Martinelli, Shirou Matsumoto, Chris Mühlhausen, Hélène Ogier de Baulny, Carlos Ortez, Luis Peña‐Quintana, Danijela Petković Ramadža, Esmeralda Rodrigues, Sabine Scholl‐Bürgi, Etienne Sokal, Christian Staufner, Marshall L. Summar, Nicholas Thompson, Roshni Vara, Inmaculada Vives Pinera, John H. Walter, Monique Williams, Peter Burgard: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. In: Journal of Inherited Metabolic Disease. Band 38, Nr. 6, November 2015, ISSN 0141-8955, S. 1041–1057, doi:10.1007/s10545-015-9839-3, PMID 25875215 (wiley.com).
  • A. Alfares, L. D. Nunez, K. Al-Thihli, J. Mitchell, S. Melancon, N. Anastasio, K. C. H. Ha, J. Majewski, D. S. Rosenblatt, N. Braverman: 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. Band 48, Nr. 9, 1. September 2011, ISSN 0022-2593, S. 602–605, doi:10.1136/jmedgenet-2011-100230 (englisch).
  • A. R. Gregg, A. W. Warman, D. R. Thorburn, W. E. O’Brien: Combined malonic and methylmalonic aciduria with normal malonyl‐coenzyme A decarboxylase activity: A case supporting multiple aetiologies. In: Journal of Inherited Metabolic Disease. Band 21, Nr. 4, Juni 1998, ISSN 0141-8955, S. 382–390, doi:10.1023/A:1005302607897, PMID 9700595 (englisch, wiley.com).
  • NIH Intramural Sequencing Center Group, Jennifer L Sloan, Jennifer J Johnston, Irini Manoli, Randy J Chandler, Caitlin Krause, Nuria Carrillo-Carrasco, Suma D Chandrasekaran, Justin R Sysol, Kevin O’Brien, Natalie S Hauser, Julie C Sapp, Heidi M Dorward, Marjan Huizing, Bruce A Barshop, Susan A Berry, Philip M James, Neena L Champaigne, Pascale de Lonlay, Vassilli Valayannopoulos, Michael D Geschwind, Dimitar K Gavrilov, William L Nyhan, Leslie G Biesecker, Charles P Venditti: Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. In: Nature Genetics. Band 43, Nr. 9, September 2011, ISSN 1061-4036, S. 883–886, doi:10.1038/ng.908, PMID 21841779, PMC 3163731 (freier Volltext) – (nature.com).
  • Ashwini Malhotra, Navdeep Saini, Sanjay Chhabra, Sunny Chhabra: Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants. In: Indian Journal of Critical Care Medicine. Band 19, Nr. 3, März 2015, ISSN 0972-5229, S. 183–185, doi:10.4103/0972-5229.152776, PMID 25810618, PMC 4366921 (freier Volltext) – (ijccm.org).
  • Frank Rutsch, Susann Gailus, Isabelle R Miousse, Terttu Suormala, Corinne Sagné, Mohammad Reza Toliat, Gudrun Nürnberg, Tanja Wittkampf, Insa Buers, Azita Sharifi, Martin Stucki, Christian Becker, Matthias Baumgartner, Horst Robenek, Thorsten Marquardt, Wolfgang Höhne, Bruno Gasnier, David S Rosenblatt, Brian Fowler, Peter Nürnberg: Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. In: Nature Genetics. Band 41, Nr. 2, Februar 2009, ISSN 1061-4036, S. 234–239, doi:10.1038/ng.294.
  • David Coelho, Terttu Suormala, Martin Stucki, Jordan P. Lerner-Ellis, David S. Rosenblatt, Robert F. Newbold, Matthias R. Baumgartner, Brian Fowler: Gene Identification for the cblD Defect of Vitamin B 12 Metabolism. In: New England Journal of Medicine. Band 358, Nr. 14, 3. April 2008, ISSN 0028-4793, S. 1454–1464, doi:10.1056/NEJMoa072200.
  • Marilyn C. Higginbottom, Lawrence Sweetman, William L. Nyhan: A Syndrome of Methylmalonic Aciduria, Homocystinuria, Megaloblastic Anemia and Neurologic Abnormalities in a Vitamin B 12 -Deficient Breast-Fed Infant of a Strict Vegetarian. In: New England Journal of Medicine. Band 299, Nr. 7, 17. August 1978, ISSN 0028-4793, S. 317–323, doi:10.1056/NEJM197808172990701, PMID 683264 (nejm.org).
  • Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, Kimberly A Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C Grünert, Stephanie Grünewald, Tomas Honzik, Begoña Merinero, Celia Pérez-Cerdá, Sabine Scholl-Bürgi, Flemming Skovby, Frits Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani: Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. In: Orphanet Journal of Rare Diseases. Band 9, Nr. 1, Dezember 2014, ISSN 1750-1172, doi:10.1186/s13023-014-0130-8, PMID 25205257, PMC 4180313 (freier Volltext) – (biomedcentral.com).
  • Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan, Matthew H. Mossayebi, Charles P. Venditti, Huda B. Al‐Kouatly: Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. In: Molecular Genetics & Genomic Medicine. Band 9, Nr. 4, April 2021, ISSN 2324-9269, doi:10.1002/mgg3.1621, PMID 33625768, PMC 8123733 (freier Volltext) – (wiley.com).
  • Zeinab Wehbe, Sidney Behringer, Khaled Alatibi, David Watkins, David Rosenblatt, Ute Spiekerkoetter, Sara Tucci: 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. Band 1864, Nr. 11, November 2019, S. 1629–1643, doi:10.1016/j.bbalip.2019.07.012 (elsevier.com).
  • Monique G. M. de Sain-van der Velden, Maria van der Ham, Judith J. Jans, Gepke Visser, Hubertus C. M. T. Prinsen, Nanda M. Verhoeven-Duif, Koen L. I. van Gassen, Peter M. van Hasselt: A New Approach for Fast Metabolic Diagnostics in CMAMMA. In: JIMD Reports. Band 30. Springer Berlin Heidelberg, Berlin, Heidelberg 2016, ISBN 978-3-662-53680-3, S. 15–22, doi:10.1007/8904_2016_531, PMID 26915364, PMC 5110436 (freier Volltext).
  • M Dewit, I Decoo, E Verbeek, R Schot, G Schoonderwoerd, M Duran, J Deklerk, J Huijmans, M Lequin, F Verheijen: Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency. In: Molecular Genetics and Metabolism. Band 87, Nr. 2, Februar 2006, S. 102–106, doi:10.1016/j.ymgme.2005.09.009 (elsevier.com).
  • B. Fowler, J. V. Leonard, M. R. Baumgartner: Causes of and diagnostic approach to methylmalonic acidurias. In: Journal of Inherited Metabolic Disease. Band 31, Nr. 3, Juni 2008, ISSN 0141-8955, S. 350–360, doi:10.1007/s10545-008-0839-4 (wiley.com).
  • Katarína Brennerová, Martina Škopková, Mária Ostrožlíková, Jana Šaligová, Juraj Staník, Vladimír Bzdúch, Daniela Gašperíková: Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report. In: BMC Pediatrics. Band 21, Nr. 1, Dezember 2021, ISSN 1471-2431, doi:10.1186/s12887-021-03067-3, PMID 34915869, PMC 8675494 (freier Volltext) – (biomedcentral.com).
  • J.C. Linnell, D.M. Matthews, J.M. England: THERAPEUTIC MISUSE OF CYANOCOBALAMIN. In: The Lancet. Band 312, Nr. 8098, November 1978, S. 1053–1054, doi:10.1016/S0140-6736(78)92379-6 (elsevier.com).
  • Ding An, Jessica L. Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E. Murphy-Benenato, E. Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M. Lukacs, Randy J. Chandler, Lin T. Guey, Charles P. Venditti, Paolo G.V. Martini: Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia. In: Cell Reports. Band 21, Nr. 12, Dezember 2017, S. 3548–3558, doi:10.1016/j.celrep.2017.11.081, PMID 29262333, PMC 9667413 (freier Volltext) – (elsevier.com [abgerufen am 8. Februar 2024]).
  • Paolo G.V. Martini, Lin T. Guey: A New Era for Rare Genetic Diseases: Messenger RNA Therapy. In: Human Gene Therapy. Band 30, Nr. 10, 1. Oktober 2019, ISSN 1043-0342, S. 1180–1189, doi:10.1089/hum.2019.090 (liebertpub.com).
  • Allison J. Armstrong, Maria Sol Collado, Brad R. Henke, Matthew W. Olson, Stephen A. Hoang, Christin A. Hamilton, Taylor D. Pourtaheri, Kimberly A. Chapman, Marshall M. Summar, Brian A. Johns, Brian R. Wamhoff, John E. Reardon, Robert A. Figler: A novel small molecule approach for the treatment of propionic and methylmalonic acidemias. In: Molecular Genetics and Metabolism. Band 133, Nr. 1, Mai 2021, S. 71–82, doi:10.1016/j.ymgme.2021.03.001, PMID 33741272, PMC 9109253 (freier Volltext) – (elsevier.com).
  • Chitra Subramanian, Matthew W. Frank, Rajaa Sukhun, Christopher E. Henry, Anna Wade, Mallory E. Harden, Satish Rao, Rajendra Tangallapally, Mi-Kyung Yun, Stephen W. White, Richard E. Lee, Uma Sinha, Charles O. Rock, Suzanne Jackowski: Pantothenate Kinase Activation Restores Brain Coenzyme A in a Mouse Model of Pantothenate Kinase-Associated Neurodegeneration. In: Journal of Pharmacology and Experimental Therapeutics. Band 388, Nr. 1, Januar 2024, ISSN 0022-3565, S. 171–180, doi:10.1124/jpet.123.001919 (aspetjournals.org).
  • V. G. Oberholzer, B. Levin, E. A. Burgess, W. F. Young: Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. In: Archives of Disease in Childhood. Band 42, Nr. 225, 1. Oktober 1967, ISSN 0003-9888, S. 492–504, doi:10.1136/adc.42.225.492, PMID 6061291, PMC 2019805 (freier Volltext) – (bmj.com [abgerufen am 16. Juni 2024]).
  • Randy J. Chandler, Patricia M. Zerfas, Sara Shanske, Jennifer Sloan, Victoria Hoffmann, Salvatore DiMauro, Charles P. Venditti: Mitochondrial dysfunction in mut methylmalonic acidemia. In: The FASEB Journal. Band 23, Nr. 4, April 2009, ISSN 0892-6638, S. 1252–1261, doi:10.1096/fj.08-121848, PMID 19088183, PMC 2660647 (freier Volltext) – (wiley.com).
  • Hunter R Underhill, Si Houn Hahn, Susan L Hale, J Lawrence Merritt: Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p. P86L ). In: Pediatrics International. Band 55, Nr. 6, Dezember 2013, ISSN 1328-8067, doi:10.1111/ped.12195 (wiley.com).

elsevier.com

linkinghub.elsevier.com

  • Zeinab Wehbe, Sidney Behringer, Khaled Alatibi, David Watkins, David Rosenblatt, Ute Spiekerkoetter, Sara Tucci: 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. Band 1864, Nr. 11, November 2019, S. 1629–1643, doi:10.1016/j.bbalip.2019.07.012 (elsevier.com).
  • M Dewit, I Decoo, E Verbeek, R Schot, G Schoonderwoerd, M Duran, J Deklerk, J Huijmans, M Lequin, F Verheijen: Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency. In: Molecular Genetics and Metabolism. Band 87, Nr. 2, Februar 2006, S. 102–106, doi:10.1016/j.ymgme.2005.09.009 (elsevier.com).
  • J.C. Linnell, D.M. Matthews, J.M. England: THERAPEUTIC MISUSE OF CYANOCOBALAMIN. In: The Lancet. Band 312, Nr. 8098, November 1978, S. 1053–1054, doi:10.1016/S0140-6736(78)92379-6 (elsevier.com).
  • Ding An, Jessica L. Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E. Murphy-Benenato, E. Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M. Lukacs, Randy J. Chandler, Lin T. Guey, Charles P. Venditti, Paolo G.V. Martini: Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia. In: Cell Reports. Band 21, Nr. 12, Dezember 2017, S. 3548–3558, doi:10.1016/j.celrep.2017.11.081, PMID 29262333, PMC 9667413 (freier Volltext) – (elsevier.com [abgerufen am 8. Februar 2024]).
  • Allison J. Armstrong, Maria Sol Collado, Brad R. Henke, Matthew W. Olson, Stephen A. Hoang, Christin A. Hamilton, Taylor D. Pourtaheri, Kimberly A. Chapman, Marshall M. Summar, Brian A. Johns, Brian R. Wamhoff, John E. Reardon, Robert A. Figler: A novel small molecule approach for the treatment of propionic and methylmalonic acidemias. In: Molecular Genetics and Metabolism. Band 133, Nr. 1, Mai 2021, S. 71–82, doi:10.1016/j.ymgme.2021.03.001, PMID 33741272, PMC 9109253 (freier Volltext) – (elsevier.com).

genome.gov

hemoshear.com

  • HST5040 Overview. (PDF) HemoShear Therapeutics, abgerufen am 26. Mai 2024 (englisch).

hrsa.gov

newbornscreening.hrsa.gov

ijccm.org

liebertpub.com

mayocliniclabs.com

medlineplus.gov

  • Methylmalonic acidemia. In: MedlinePlus. United States National Library of Medicine, abgerufen am 30. April 2024 (englisch).
  • Methylmalonic acidemia. In: MedlinePlus. United States National Library of Medicine, abgerufen am 27. Oktober 2015 (englisch).
  • Methylmalonic acidemia. In: MedlinePlus. United States National Library of Medicine, abgerufen am 2. November 2015 (englisch).
  • Kimberly G Lee. "Newborn screening tests". MedlinePlus Medical Encyclopedia. Division of Neonatology, Medical University of South Carolina. Abgerufen am 26. April 2016.

medscape.com

emedicine.medscape.com

  • Kumbham P, Mandava P, Zweifler RM, Kent TA, Nelson Jr SL, Gerstein BY: Methylmalonic Acidemia. 19. September 2022 (medscape.com).

modernatx.com

trials.modernatx.com

nature.com

  • NIH Intramural Sequencing Center Group, Jennifer L Sloan, Jennifer J Johnston, Irini Manoli, Randy J Chandler, Caitlin Krause, Nuria Carrillo-Carrasco, Suma D Chandrasekaran, Justin R Sysol, Kevin O’Brien, Natalie S Hauser, Julie C Sapp, Heidi M Dorward, Marjan Huizing, Bruce A Barshop, Susan A Berry, Philip M James, Neena L Champaigne, Pascale de Lonlay, Vassilli Valayannopoulos, Michael D Geschwind, Dimitar K Gavrilov, William L Nyhan, Leslie G Biesecker, Charles P Venditti: Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. In: Nature Genetics. Band 43, Nr. 9, September 2011, ISSN 1061-4036, S. 883–886, doi:10.1038/ng.908, PMID 21841779, PMC 3163731 (freier Volltext) – (nature.com).

nejm.org

  • Suzanne M. Matsui, Maurice J. Mahoney, Leon E. Rosenberg: The Natural History of the Inherited Methylmalonic Acidemias. In: New England Journal of Medicine. Band 308, Nr. 15, 14. April 1983, ISSN 0028-4793, S. 857–861, doi:10.1056/NEJM198304143081501, PMID 6132336 (englisch, nejm.org).
  • Marilyn C. Higginbottom, Lawrence Sweetman, William L. Nyhan: A Syndrome of Methylmalonic Aciduria, Homocystinuria, Megaloblastic Anemia and Neurologic Abnormalities in a Vitamin B 12 -Deficient Breast-Fed Infant of a Strict Vegetarian. In: New England Journal of Medicine. Band 299, Nr. 7, 17. August 1978, ISSN 0028-4793, S. 317–323, doi:10.1056/NEJM197808172990701, PMID 683264 (nejm.org).

nih.gov

ncbi.nlm.nih.gov

  • Guglielmo RD Villani, Giovanna Gallo, Emanuela Scolamiero, Francesco Salvatore, Margherita Ruoppolo: “Classical organic acidurias”: diagnosis and pathogenesis. In: Clinical and Experimental Medicine. Band 17, Nr. 3, August 2017, ISSN 1591-8890, S. 305–323, doi:10.1007/s10238-016-0435-0, PMID 27613073.
  • Suzanne M. Matsui, Maurice J. Mahoney, Leon E. Rosenberg: The Natural History of the Inherited Methylmalonic Acidemias. In: New England Journal of Medicine. Band 308, Nr. 15, 14. April 1983, ISSN 0028-4793, S. 857–861, doi:10.1056/NEJM198304143081501, PMID 6132336 (englisch, nejm.org).
  • Stefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, Allan M. Lund, Alberto B. Burlina, Jolanta Sykut‐Cegielska, Frits A. Wijburg, Elisa Leão Teles, Jiri Zeman, Carlo Dionisi‐Vici, Ivo Barić, Daniela Karall, Persephone Augoustides‐Savvopoulou, Lise Aksglaede, Jean‐Baptiste Arnoux, Paula Avram, Matthias R. Baumgartner, Javier Blasco‐Alonso, Brigitte Chabrol, Anupam Chakrapani, Kimberly Chapman, Elisenda Cortès i Saladelafont, Maria L. Couce, Linda de Meirleir, Dries Dobbelaere, Veronika Dvorakova, Francesca Furlan, Florian Gleich, Wanda Gradowska, Stephanie Grünewald, Anil Jalan, Johannes Häberle, Gisela Haege, Robin Lachmann, Alexander Laemmle, Eveline Langereis, Pascale de Lonlay, Diego Martinelli, Shirou Matsumoto, Chris Mühlhausen, Hélène Ogier de Baulny, Carlos Ortez, Luis Peña‐Quintana, Danijela Petković Ramadža, Esmeralda Rodrigues, Sabine Scholl‐Bürgi, Etienne Sokal, Christian Staufner, Marshall L. Summar, Nicholas Thompson, Roshni Vara, Inmaculada Vives Pinera, John H. Walter, Monique Williams, Peter Burgard: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. In: Journal of Inherited Metabolic Disease. Band 38, Nr. 6, November 2015, ISSN 0141-8955, S. 1041–1057, doi:10.1007/s10545-015-9839-3, PMID 25875215 (wiley.com).
  • A. R. Gregg, A. W. Warman, D. R. Thorburn, W. E. O’Brien: Combined malonic and methylmalonic aciduria with normal malonyl‐coenzyme A decarboxylase activity: A case supporting multiple aetiologies. In: Journal of Inherited Metabolic Disease. Band 21, Nr. 4, Juni 1998, ISSN 0141-8955, S. 382–390, doi:10.1023/A:1005302607897, PMID 9700595 (englisch, wiley.com).
  • NIH Intramural Sequencing Center Group, Jennifer L Sloan, Jennifer J Johnston, Irini Manoli, Randy J Chandler, Caitlin Krause, Nuria Carrillo-Carrasco, Suma D Chandrasekaran, Justin R Sysol, Kevin O’Brien, Natalie S Hauser, Julie C Sapp, Heidi M Dorward, Marjan Huizing, Bruce A Barshop, Susan A Berry, Philip M James, Neena L Champaigne, Pascale de Lonlay, Vassilli Valayannopoulos, Michael D Geschwind, Dimitar K Gavrilov, William L Nyhan, Leslie G Biesecker, Charles P Venditti: Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. In: Nature Genetics. Band 43, Nr. 9, September 2011, ISSN 1061-4036, S. 883–886, doi:10.1038/ng.908, PMID 21841779, PMC 3163731 (freier Volltext) – (nature.com).
  • Ashwini Malhotra, Navdeep Saini, Sanjay Chhabra, Sunny Chhabra: Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants. In: Indian Journal of Critical Care Medicine. Band 19, Nr. 3, März 2015, ISSN 0972-5229, S. 183–185, doi:10.4103/0972-5229.152776, PMID 25810618, PMC 4366921 (freier Volltext) – (ijccm.org).
  • Marilyn C. Higginbottom, Lawrence Sweetman, William L. Nyhan: A Syndrome of Methylmalonic Aciduria, Homocystinuria, Megaloblastic Anemia and Neurologic Abnormalities in a Vitamin B 12 -Deficient Breast-Fed Infant of a Strict Vegetarian. In: New England Journal of Medicine. Band 299, Nr. 7, 17. August 1978, ISSN 0028-4793, S. 317–323, doi:10.1056/NEJM197808172990701, PMID 683264 (nejm.org).
  • Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, Kimberly A Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C Grünert, Stephanie Grünewald, Tomas Honzik, Begoña Merinero, Celia Pérez-Cerdá, Sabine Scholl-Bürgi, Flemming Skovby, Frits Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani: Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. In: Orphanet Journal of Rare Diseases. Band 9, Nr. 1, Dezember 2014, ISSN 1750-1172, doi:10.1186/s13023-014-0130-8, PMID 25205257, PMC 4180313 (freier Volltext) – (biomedcentral.com).
  • Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan, Matthew H. Mossayebi, Charles P. Venditti, Huda B. Al‐Kouatly: Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. In: Molecular Genetics & Genomic Medicine. Band 9, Nr. 4, April 2021, ISSN 2324-9269, doi:10.1002/mgg3.1621, PMID 33625768, PMC 8123733 (freier Volltext) – (wiley.com).
  • Monique G. M. de Sain-van der Velden, Maria van der Ham, Judith J. Jans, Gepke Visser, Hubertus C. M. T. Prinsen, Nanda M. Verhoeven-Duif, Koen L. I. van Gassen, Peter M. van Hasselt: A New Approach for Fast Metabolic Diagnostics in CMAMMA. In: JIMD Reports. Band 30. Springer Berlin Heidelberg, Berlin, Heidelberg 2016, ISBN 978-3-662-53680-3, S. 15–22, doi:10.1007/8904_2016_531, PMID 26915364, PMC 5110436 (freier Volltext).
  • Katarína Brennerová, Martina Škopková, Mária Ostrožlíková, Jana Šaligová, Juraj Staník, Vladimír Bzdúch, Daniela Gašperíková: Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report. In: BMC Pediatrics. Band 21, Nr. 1, Dezember 2021, ISSN 1471-2431, doi:10.1186/s12887-021-03067-3, PMID 34915869, PMC 8675494 (freier Volltext) – (biomedcentral.com).
  • Ding An, Jessica L. Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E. Murphy-Benenato, E. Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M. Lukacs, Randy J. Chandler, Lin T. Guey, Charles P. Venditti, Paolo G.V. Martini: Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia. In: Cell Reports. Band 21, Nr. 12, Dezember 2017, S. 3548–3558, doi:10.1016/j.celrep.2017.11.081, PMID 29262333, PMC 9667413 (freier Volltext) – (elsevier.com [abgerufen am 8. Februar 2024]).
  • Allison J. Armstrong, Maria Sol Collado, Brad R. Henke, Matthew W. Olson, Stephen A. Hoang, Christin A. Hamilton, Taylor D. Pourtaheri, Kimberly A. Chapman, Marshall M. Summar, Brian A. Johns, Brian R. Wamhoff, John E. Reardon, Robert A. Figler: A novel small molecule approach for the treatment of propionic and methylmalonic acidemias. In: Molecular Genetics and Metabolism. Band 133, Nr. 1, Mai 2021, S. 71–82, doi:10.1016/j.ymgme.2021.03.001, PMID 33741272, PMC 9109253 (freier Volltext) – (elsevier.com).
  • V. G. Oberholzer, B. Levin, E. A. Burgess, W. F. Young: Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. In: Archives of Disease in Childhood. Band 42, Nr. 225, 1. Oktober 1967, ISSN 0003-9888, S. 492–504, doi:10.1136/adc.42.225.492, PMID 6061291, PMC 2019805 (freier Volltext) – (bmj.com [abgerufen am 16. Juni 2024]).
  • Lianshu Han, Shengnan Wu, Feng Han, Xuefan Gu: Insights into the molecular mechanisms of methylmalonic acidemia using microarray technology. In: International Journal of Clinical and Experimental Medicine. Band 8, Nr. 6, 15. Juni 2015, ISSN 1940-5901, S. 8866–8879, PMID 26309541, PMC 4538064 (freier Volltext).
  • Randy J. Chandler, Patricia M. Zerfas, Sara Shanske, Jennifer Sloan, Victoria Hoffmann, Salvatore DiMauro, Charles P. Venditti: Mitochondrial dysfunction in mut methylmalonic acidemia. In: The FASEB Journal. Band 23, Nr. 4, April 2009, ISSN 0892-6638, S. 1252–1261, doi:10.1096/fj.08-121848, PMID 19088183, PMC 2660647 (freier Volltext) – (wiley.com).

omim.org

orpha.net

rarediseases.org

simd.org

  • Manoli, I: Organic acidurias – I. (PDF) In: Society for Inherited Metabolic Disorders. 15. September 2023, abgerufen am 27. Mai 2024.

wiley.com

onlinelibrary.wiley.com

  • Stefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, Allan M. Lund, Alberto B. Burlina, Jolanta Sykut‐Cegielska, Frits A. Wijburg, Elisa Leão Teles, Jiri Zeman, Carlo Dionisi‐Vici, Ivo Barić, Daniela Karall, Persephone Augoustides‐Savvopoulou, Lise Aksglaede, Jean‐Baptiste Arnoux, Paula Avram, Matthias R. Baumgartner, Javier Blasco‐Alonso, Brigitte Chabrol, Anupam Chakrapani, Kimberly Chapman, Elisenda Cortès i Saladelafont, Maria L. Couce, Linda de Meirleir, Dries Dobbelaere, Veronika Dvorakova, Francesca Furlan, Florian Gleich, Wanda Gradowska, Stephanie Grünewald, Anil Jalan, Johannes Häberle, Gisela Haege, Robin Lachmann, Alexander Laemmle, Eveline Langereis, Pascale de Lonlay, Diego Martinelli, Shirou Matsumoto, Chris Mühlhausen, Hélène Ogier de Baulny, Carlos Ortez, Luis Peña‐Quintana, Danijela Petković Ramadža, Esmeralda Rodrigues, Sabine Scholl‐Bürgi, Etienne Sokal, Christian Staufner, Marshall L. Summar, Nicholas Thompson, Roshni Vara, Inmaculada Vives Pinera, John H. Walter, Monique Williams, Peter Burgard: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. In: Journal of Inherited Metabolic Disease. Band 38, Nr. 6, November 2015, ISSN 0141-8955, S. 1041–1057, doi:10.1007/s10545-015-9839-3, PMID 25875215 (wiley.com).
  • A. R. Gregg, A. W. Warman, D. R. Thorburn, W. E. O’Brien: Combined malonic and methylmalonic aciduria with normal malonyl‐coenzyme A decarboxylase activity: A case supporting multiple aetiologies. In: Journal of Inherited Metabolic Disease. Band 21, Nr. 4, Juni 1998, ISSN 0141-8955, S. 382–390, doi:10.1023/A:1005302607897, PMID 9700595 (englisch, wiley.com).
  • Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan, Matthew H. Mossayebi, Charles P. Venditti, Huda B. Al‐Kouatly: Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. In: Molecular Genetics & Genomic Medicine. Band 9, Nr. 4, April 2021, ISSN 2324-9269, doi:10.1002/mgg3.1621, PMID 33625768, PMC 8123733 (freier Volltext) – (wiley.com).
  • B. Fowler, J. V. Leonard, M. R. Baumgartner: Causes of and diagnostic approach to methylmalonic acidurias. In: Journal of Inherited Metabolic Disease. Band 31, Nr. 3, Juni 2008, ISSN 0141-8955, S. 350–360, doi:10.1007/s10545-008-0839-4 (wiley.com).
  • Randy J. Chandler, Patricia M. Zerfas, Sara Shanske, Jennifer Sloan, Victoria Hoffmann, Salvatore DiMauro, Charles P. Venditti: Mitochondrial dysfunction in mut methylmalonic acidemia. In: The FASEB Journal. Band 23, Nr. 4, April 2009, ISSN 0892-6638, S. 1252–1261, doi:10.1096/fj.08-121848, PMID 19088183, PMC 2660647 (freier Volltext) – (wiley.com).
  • Hunter R Underhill, Si Houn Hahn, Susan L Hale, J Lawrence Merritt: Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p. P86L ). In: Pediatrics International. Band 55, Nr. 6, Dezember 2013, ISSN 1328-8067, doi:10.1111/ped.12195 (wiley.com).

zdb-katalog.de

  • Guglielmo RD Villani, Giovanna Gallo, Emanuela Scolamiero, Francesco Salvatore, Margherita Ruoppolo: “Classical organic acidurias”: diagnosis and pathogenesis. In: Clinical and Experimental Medicine. Band 17, Nr. 3, August 2017, ISSN 1591-8890, S. 305–323, doi:10.1007/s10238-016-0435-0, PMID 27613073.
  • Suzanne M. Matsui, Maurice J. Mahoney, Leon E. Rosenberg: The Natural History of the Inherited Methylmalonic Acidemias. In: New England Journal of Medicine. Band 308, Nr. 15, 14. April 1983, ISSN 0028-4793, S. 857–861, doi:10.1056/NEJM198304143081501, PMID 6132336 (englisch, nejm.org).
  • Stefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, Allan M. Lund, Alberto B. Burlina, Jolanta Sykut‐Cegielska, Frits A. Wijburg, Elisa Leão Teles, Jiri Zeman, Carlo Dionisi‐Vici, Ivo Barić, Daniela Karall, Persephone Augoustides‐Savvopoulou, Lise Aksglaede, Jean‐Baptiste Arnoux, Paula Avram, Matthias R. Baumgartner, Javier Blasco‐Alonso, Brigitte Chabrol, Anupam Chakrapani, Kimberly Chapman, Elisenda Cortès i Saladelafont, Maria L. Couce, Linda de Meirleir, Dries Dobbelaere, Veronika Dvorakova, Francesca Furlan, Florian Gleich, Wanda Gradowska, Stephanie Grünewald, Anil Jalan, Johannes Häberle, Gisela Haege, Robin Lachmann, Alexander Laemmle, Eveline Langereis, Pascale de Lonlay, Diego Martinelli, Shirou Matsumoto, Chris Mühlhausen, Hélène Ogier de Baulny, Carlos Ortez, Luis Peña‐Quintana, Danijela Petković Ramadža, Esmeralda Rodrigues, Sabine Scholl‐Bürgi, Etienne Sokal, Christian Staufner, Marshall L. Summar, Nicholas Thompson, Roshni Vara, Inmaculada Vives Pinera, John H. Walter, Monique Williams, Peter Burgard: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. In: Journal of Inherited Metabolic Disease. Band 38, Nr. 6, November 2015, ISSN 0141-8955, S. 1041–1057, doi:10.1007/s10545-015-9839-3, PMID 25875215 (wiley.com).
  • A. Alfares, L. D. Nunez, K. Al-Thihli, J. Mitchell, S. Melancon, N. Anastasio, K. C. H. Ha, J. Majewski, D. S. Rosenblatt, N. Braverman: 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. Band 48, Nr. 9, 1. September 2011, ISSN 0022-2593, S. 602–605, doi:10.1136/jmedgenet-2011-100230 (englisch).
  • A. R. Gregg, A. W. Warman, D. R. Thorburn, W. E. O’Brien: Combined malonic and methylmalonic aciduria with normal malonyl‐coenzyme A decarboxylase activity: A case supporting multiple aetiologies. In: Journal of Inherited Metabolic Disease. Band 21, Nr. 4, Juni 1998, ISSN 0141-8955, S. 382–390, doi:10.1023/A:1005302607897, PMID 9700595 (englisch, wiley.com).
  • NIH Intramural Sequencing Center Group, Jennifer L Sloan, Jennifer J Johnston, Irini Manoli, Randy J Chandler, Caitlin Krause, Nuria Carrillo-Carrasco, Suma D Chandrasekaran, Justin R Sysol, Kevin O’Brien, Natalie S Hauser, Julie C Sapp, Heidi M Dorward, Marjan Huizing, Bruce A Barshop, Susan A Berry, Philip M James, Neena L Champaigne, Pascale de Lonlay, Vassilli Valayannopoulos, Michael D Geschwind, Dimitar K Gavrilov, William L Nyhan, Leslie G Biesecker, Charles P Venditti: Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. In: Nature Genetics. Band 43, Nr. 9, September 2011, ISSN 1061-4036, S. 883–886, doi:10.1038/ng.908, PMID 21841779, PMC 3163731 (freier Volltext) – (nature.com).
  • Ashwini Malhotra, Navdeep Saini, Sanjay Chhabra, Sunny Chhabra: Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants. In: Indian Journal of Critical Care Medicine. Band 19, Nr. 3, März 2015, ISSN 0972-5229, S. 183–185, doi:10.4103/0972-5229.152776, PMID 25810618, PMC 4366921 (freier Volltext) – (ijccm.org).
  • Frank Rutsch, Susann Gailus, Isabelle R Miousse, Terttu Suormala, Corinne Sagné, Mohammad Reza Toliat, Gudrun Nürnberg, Tanja Wittkampf, Insa Buers, Azita Sharifi, Martin Stucki, Christian Becker, Matthias Baumgartner, Horst Robenek, Thorsten Marquardt, Wolfgang Höhne, Bruno Gasnier, David S Rosenblatt, Brian Fowler, Peter Nürnberg: Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. In: Nature Genetics. Band 41, Nr. 2, Februar 2009, ISSN 1061-4036, S. 234–239, doi:10.1038/ng.294.
  • David Coelho, Terttu Suormala, Martin Stucki, Jordan P. Lerner-Ellis, David S. Rosenblatt, Robert F. Newbold, Matthias R. Baumgartner, Brian Fowler: Gene Identification for the cblD Defect of Vitamin B 12 Metabolism. In: New England Journal of Medicine. Band 358, Nr. 14, 3. April 2008, ISSN 0028-4793, S. 1454–1464, doi:10.1056/NEJMoa072200.
  • Marilyn C. Higginbottom, Lawrence Sweetman, William L. Nyhan: A Syndrome of Methylmalonic Aciduria, Homocystinuria, Megaloblastic Anemia and Neurologic Abnormalities in a Vitamin B 12 -Deficient Breast-Fed Infant of a Strict Vegetarian. In: New England Journal of Medicine. Band 299, Nr. 7, 17. August 1978, ISSN 0028-4793, S. 317–323, doi:10.1056/NEJM197808172990701, PMID 683264 (nejm.org).
  • Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, Kimberly A Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C Grünert, Stephanie Grünewald, Tomas Honzik, Begoña Merinero, Celia Pérez-Cerdá, Sabine Scholl-Bürgi, Flemming Skovby, Frits Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani: Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. In: Orphanet Journal of Rare Diseases. Band 9, Nr. 1, Dezember 2014, ISSN 1750-1172, doi:10.1186/s13023-014-0130-8, PMID 25205257, PMC 4180313 (freier Volltext) – (biomedcentral.com).
  • Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan, Matthew H. Mossayebi, Charles P. Venditti, Huda B. Al‐Kouatly: Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. In: Molecular Genetics & Genomic Medicine. Band 9, Nr. 4, April 2021, ISSN 2324-9269, doi:10.1002/mgg3.1621, PMID 33625768, PMC 8123733 (freier Volltext) – (wiley.com).
  • B. Fowler, J. V. Leonard, M. R. Baumgartner: Causes of and diagnostic approach to methylmalonic acidurias. In: Journal of Inherited Metabolic Disease. Band 31, Nr. 3, Juni 2008, ISSN 0141-8955, S. 350–360, doi:10.1007/s10545-008-0839-4 (wiley.com).
  • Katarína Brennerová, Martina Škopková, Mária Ostrožlíková, Jana Šaligová, Juraj Staník, Vladimír Bzdúch, Daniela Gašperíková: Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report. In: BMC Pediatrics. Band 21, Nr. 1, Dezember 2021, ISSN 1471-2431, doi:10.1186/s12887-021-03067-3, PMID 34915869, PMC 8675494 (freier Volltext) – (biomedcentral.com).
  • Paolo G.V. Martini, Lin T. Guey: A New Era for Rare Genetic Diseases: Messenger RNA Therapy. In: Human Gene Therapy. Band 30, Nr. 10, 1. Oktober 2019, ISSN 1043-0342, S. 1180–1189, doi:10.1089/hum.2019.090 (liebertpub.com).
  • Chitra Subramanian, Matthew W. Frank, Rajaa Sukhun, Christopher E. Henry, Anna Wade, Mallory E. Harden, Satish Rao, Rajendra Tangallapally, Mi-Kyung Yun, Stephen W. White, Richard E. Lee, Uma Sinha, Charles O. Rock, Suzanne Jackowski: Pantothenate Kinase Activation Restores Brain Coenzyme A in a Mouse Model of Pantothenate Kinase-Associated Neurodegeneration. In: Journal of Pharmacology and Experimental Therapeutics. Band 388, Nr. 1, Januar 2024, ISSN 0022-3565, S. 171–180, doi:10.1124/jpet.123.001919 (aspetjournals.org).
  • V. G. Oberholzer, B. Levin, E. A. Burgess, W. F. Young: Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. In: Archives of Disease in Childhood. Band 42, Nr. 225, 1. Oktober 1967, ISSN 0003-9888, S. 492–504, doi:10.1136/adc.42.225.492, PMID 6061291, PMC 2019805 (freier Volltext) – (bmj.com [abgerufen am 16. Juni 2024]).
  • Lianshu Han, Shengnan Wu, Feng Han, Xuefan Gu: Insights into the molecular mechanisms of methylmalonic acidemia using microarray technology. In: International Journal of Clinical and Experimental Medicine. Band 8, Nr. 6, 15. Juni 2015, ISSN 1940-5901, S. 8866–8879, PMID 26309541, PMC 4538064 (freier Volltext).
  • Randy J. Chandler, Patricia M. Zerfas, Sara Shanske, Jennifer Sloan, Victoria Hoffmann, Salvatore DiMauro, Charles P. Venditti: Mitochondrial dysfunction in mut methylmalonic acidemia. In: The FASEB Journal. Band 23, Nr. 4, April 2009, ISSN 0892-6638, S. 1252–1261, doi:10.1096/fj.08-121848, PMID 19088183, PMC 2660647 (freier Volltext) – (wiley.com).
  • Hunter R Underhill, Si Houn Hahn, Susan L Hale, J Lawrence Merritt: Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p. P86L ). In: Pediatrics International. Band 55, Nr. 6, Dezember 2013, ISSN 1328-8067, doi:10.1111/ped.12195 (wiley.com).