Methylmalonic acidemias (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Methylmalonic acidemias" in English language version.

refsWebsite

Global rank English rank

46nih.gov

4^th place

26doi.org

2^nd place

19orpha.net

3,537^th place

7,177^th place

4semanticscholar.org

11^th place

8^th place

2genome.gov

9,308^th place

8,899^th place

2omim.org

4,380^th place

4,305^th place

2clinicaltrials.gov

5,225^th place

4,062^nd place

1wiktionary.org

649^th place

827^th place

1medlineplus.gov

1,581^st place

1,299^th place

1rarediseases.org

5,181^st place

3,260^th place

1mayocliniclabs.com

low place

1web.archive.org

1^st place

1arizona.edu

1,592^nd place

1,119^th place

1medscape.com

719^th place

636^th place

1hrsa.gov

low place

1simd.org

low place

1rero.ch

3,510^th place

2,263^rd place

1modernatx.com

low place

1hemoshear.com

low place

arizona.edu

biology.arizona.edu

"Vitamin B₁₂ deficiency - The methylmalonic aciduria connection". The Biology Project. Department of Biochemistry and Molecular Biophysics, The University of Arizona. 31 January 2000. Archived from the original on 15 June 2018.

clinicaltrials.gov

"Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia (HERO)". ClinicalTrials.gov. 3 January 2024. Retrieved 2024-05-24.
"A First in Human, Dose Escalation Study to Evaluate the Safety and Tolerability of BBP-671 in Healthy Volunteers and Patients With Propionic Acidemia or Methylmalonic Acidemia". ClinicalTrials.gov. 20 December 2023. Retrieved 2024-05-26.

doi.org

Villani GR, Gallo G, Scolamiero E, Salvatore F, Ruoppolo M (August 2017). ""Classical organic acidurias": diagnosis and pathogenesis". Clinical and Experimental Medicine. 17 (3): 305–323. doi:10.1007/s10238-016-0435-0. PMID 27613073.
Matsui SM, Mahoney MJ, Rosenberg LE (April 1983). "The natural history of the inherited methylmalonic acidemias". The New England Journal of Medicine. 308 (15): 857–861. doi:10.1056/NEJM198304143081501. PMID 6132336.
Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, et al. (November 2015). "The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation". Journal of Inherited Metabolic Disease. 38 (6): 1041–1057. doi:10.1007/s10545-015-9839-3. PMID 25875215.
Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, et al. (September 2011). "Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype". Journal of Medical Genetics. 48 (9): 602–605. doi:10.1136/jmedgenet-2011-100230. PMID 21785126.
Gregg AR, Warman AW, Thorburn DR, O'Brien WE (June 1998). "Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies". Journal of Inherited Metabolic Disease. 21 (4): 382–390. doi:10.1023/A:1005302607897. PMID 9700595.
Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, et al. (August 2011). "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria". Nature Genetics. 43 (9): 883–886. doi:10.1038/ng.908. PMC 3163731. PMID 21841779.
Saini N, Malhotra A, Chhabra S, Chhabra S (March 2015). "Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants". Indian Journal of Critical Care Medicine. 19 (3): 183–185. doi:10.4103/0972-5229.152776. PMC 4366921. PMID 25810618.
Rutsch F, Gailus S, Miousse IR, Suormala T, Sagné C, Toliat MR, et al. (February 2009). "Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism". Nature Genetics. 41 (2): 234–239. doi:10.1038/ng.294. PMID 19136951. S2CID 28006539.
Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, et al. (April 2008). "Gene identification for the cblD defect of vitamin B12 metabolism". The New England Journal of Medicine. 358 (14): 1454–1464. doi:10.1056/NEJMoa072200. PMID 18385497. S2CID 15107040.
Higginbottom MC, Sweetman L, Nyhan WL (August 1978). "A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian". The New England Journal of Medicine. 299 (7): 317–323. doi:10.1056/NEJM197808172990701. PMID 683264.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, et al. (September 2014). "Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia". Orphanet Journal of Rare Diseases. 9 (1): 130. doi:10.1186/s13023-014-0130-8. PMC 4180313. PMID 25205257.
Gabriel MC, Rice SM, Sloan JL, Mossayebi MH, Venditti CP, Al-Kouatly HB (April 2021). "Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria". Molecular Genetics & Genomic Medicine. 9 (4): e1621. doi:10.1002/mgg3.1621. PMC 8123733. PMID 33625768.
Wehbe Z, Behringer S, Alatibi K, Watkins D, Rosenblatt D, Spiekerkoetter U, et al. (November 2019). "The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism". Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1864 (11): 1629–1643. doi:10.1016/j.bbalip.2019.07.012. PMID 31376476.
Held PK, Singh E, Scott Schwoerer J (February 2022). "Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations". International Journal of Neonatal Screening. 8 (1): 13. doi:10.3390/ijns8010013. PMC 8883915. PMID 35225935.
de Sain-van der Velden MG, van der Ham M, Jans JJ, Visser G, Prinsen HC, Verhoeven-Duif NM, et al. (2016). Morava E, Baumgartner M, Patterson M, Rahman S (eds.). "A New Approach for Fast Metabolic Diagnostics in CMAMMA". JIMD Reports. 30. Berlin, Heidelberg: Springer Berlin Heidelberg: 15–22. doi:10.1007/8904_2016_531. ISBN 978-3-662-53680-3. PMC 5110436. PMID 26915364.
de Wit MC, de Coo IF, Verbeek E, Schot R, Schoonderwoerd GC, Duran M, et al. (February 2006). "Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency". Molecular Genetics and Metabolism. 87 (2): 102–106. doi:10.1016/j.ymgme.2005.09.009. PMID 16275149.
Fowler B, Leonard JV, Baumgartner MR (June 2008). "Causes of and diagnostic approach to methylmalonic acidurias" (PDF). Journal of Inherited Metabolic Disease. 31 (3): 350–360. doi:10.1007/s10545-008-0839-4. PMID 18563633.
Brennerová K, Škopková M, Ostrožlíková M, Šaligová J, Staník J, Bzdúch V, et al. (December 2021). "Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report". BMC Pediatrics. 21 (1): 578. doi:10.1186/s12887-021-03067-3. PMC 8675494. PMID 34915869.
Linnell JC, Matthews DM, England JM (November 1978). "Therapeutic misuse of cyanocobalamin". Lancet. 2 (8098): 1053–1054. doi:10.1016/s0140-6736(78)92379-6. PMID 82069. S2CID 29703726.
An D, Schneller JL, Frassetto A, Liang S, Zhu X, Park JS, et al. (December 2017). "Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia". Cell Reports. 21 (12): 3548–3558. doi:10.1016/j.celrep.2017.11.081. PMC 9667413. PMID 29262333.
Martini PG, Guey LT (October 2019). "A New Era for Rare Genetic Diseases: Messenger RNA Therapy". Human Gene Therapy. 30 (10): 1180–1189. doi:10.1089/hum.2019.090. PMID 31179759.
Armstrong AJ, Collado MS, Henke BR, Olson MW, Hoang SA, Hamilton CA, et al. (May 2021). "A novel small molecule approach for the treatment of propionic and methylmalonic acidemias". Molecular Genetics and Metabolism. 133 (1): 71–82. doi:10.1016/j.ymgme.2021.03.001. PMC 9109253. PMID 33741272.
Subramanian C, Frank MW, Sukhun R, Henry CE, Wade A, Harden ME, et al. (January 2024). "Pantothenate Kinase Activation Restores Brain Coenzyme A in a Mouse Model of Pantothenate Kinase-Associated Neurodegeneration". The Journal of Pharmacology and Experimental Therapeutics. 388 (1): 171–180. doi:10.1124/jpet.123.001919. PMID 37875310.
Oberholzer VG, Levin B, Burgess EA, Young WF (October 1967). "Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis". Archives of Disease in Childhood. 42 (225): 492–504. doi:10.1136/adc.42.225.492. PMC 2019805. PMID 6061291.
Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, et al. (April 2009). "Mitochondrial dysfunction in mut methylmalonic acidemia". FASEB Journal. 23 (4): 1252–1261. doi:10.1096/fj.08-121848. PMC 2660647. PMID 19088183.
Underhill HR, Hahn SH, Hale SL, Merritt JL (December 2013). "Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L)". Pediatrics International. 55 (6): e156 – e158. doi:10.1111/ped.12195. PMID 24330302. S2CID 27495325.

genome.gov

"About Methylmalonic Acidemia". National Human Genome Research Institute. U.S. National Institutes of Health. Retrieved 2015-11-03.
"NHGRI researchers serve up mysterious disease diagnosis - three ways". National Human Genome Research Institute. Retrieved 2024-04-28.

hemoshear.com

"HST5040 Overview" (PDF). HemoShera. Retrieved 2024-05-26.

hrsa.gov

newbornscreening.hrsa.gov

"Newborn Screening Process". Health Resources and Services Administration (HRSA). Retrieved 2024-05-11.

mayocliniclabs.com

"Methylmalonic Aciduria Gene Panel, Varies". Mayo Clinic Laboratories. Retrieved 2024-05-26.

medlineplus.gov

"Methylmalonic acidemia". MedlinePlus. National Library of Medicine. Retrieved 2024-04-30.

medscape.com

emedicine.medscape.com

Kumbham P, Mandava P, Zweifler RM, Kent TA, Nelson Jr SL, Gerstein BY (19 September 2022). Talavera F, Kirshner HS, Lutsep HL (eds.). "Methylmalonic Acidemia". EMedicine.

modernatx.com

trials.modernatx.com

"A Clinical Trial of a Methylmalonic Acidemia (MMA) Due to MUT Deficiency Treatment for Children and Adults". Retrieved 2024-01-04.

nih.gov

pubmed.ncbi.nlm.nih.gov

Villani GR, Gallo G, Scolamiero E, Salvatore F, Ruoppolo M (August 2017). ""Classical organic acidurias": diagnosis and pathogenesis". Clinical and Experimental Medicine. 17 (3): 305–323. doi:10.1007/s10238-016-0435-0. PMID 27613073.
Matsui SM, Mahoney MJ, Rosenberg LE (April 1983). "The natural history of the inherited methylmalonic acidemias". The New England Journal of Medicine. 308 (15): 857–861. doi:10.1056/NEJM198304143081501. PMID 6132336.
Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, et al. (November 2015). "The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation". Journal of Inherited Metabolic Disease. 38 (6): 1041–1057. doi:10.1007/s10545-015-9839-3. PMID 25875215.
Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, et al. (September 2011). "Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype". Journal of Medical Genetics. 48 (9): 602–605. doi:10.1136/jmedgenet-2011-100230. PMID 21785126.
Gregg AR, Warman AW, Thorburn DR, O'Brien WE (June 1998). "Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies". Journal of Inherited Metabolic Disease. 21 (4): 382–390. doi:10.1023/A:1005302607897. PMID 9700595.
Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, et al. (August 2011). "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria". Nature Genetics. 43 (9): 883–886. doi:10.1038/ng.908. PMC 3163731. PMID 21841779.
Saini N, Malhotra A, Chhabra S, Chhabra S (March 2015). "Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants". Indian Journal of Critical Care Medicine. 19 (3): 183–185. doi:10.4103/0972-5229.152776. PMC 4366921. PMID 25810618.
Manoli I, Sloan JL, Venditti CP (2016). "Isolated Methylmalonic Acidemia". In Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, Amemiya A (eds.). GeneReviews® [Internet]. University of Washington. PMID 20301409. NBK1231.
Rutsch F, Gailus S, Miousse IR, Suormala T, Sagné C, Toliat MR, et al. (February 2009). "Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism". Nature Genetics. 41 (2): 234–239. doi:10.1038/ng.294. PMID 19136951. S2CID 28006539.
Sloan JL, Carrillo N, Adams D, Venditti CP (December 2021) [February 2008]. "Disorders of Intracellular Cobalamin Metabolism". In Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, Amemiya A (eds.). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. PMID 20301503.
Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, et al. (April 2008). "Gene identification for the cblD defect of vitamin B12 metabolism". The New England Journal of Medicine. 358 (14): 1454–1464. doi:10.1056/NEJMoa072200. PMID 18385497. S2CID 15107040.
Higginbottom MC, Sweetman L, Nyhan WL (August 1978). "A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian". The New England Journal of Medicine. 299 (7): 317–323. doi:10.1056/NEJM197808172990701. PMID 683264.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, et al. (September 2014). "Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia". Orphanet Journal of Rare Diseases. 9 (1): 130. doi:10.1186/s13023-014-0130-8. PMC 4180313. PMID 25205257.
Gabriel MC, Rice SM, Sloan JL, Mossayebi MH, Venditti CP, Al-Kouatly HB (April 2021). "Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria". Molecular Genetics & Genomic Medicine. 9 (4): e1621. doi:10.1002/mgg3.1621. PMC 8123733. PMID 33625768.
Wehbe Z, Behringer S, Alatibi K, Watkins D, Rosenblatt D, Spiekerkoetter U, et al. (November 2019). "The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism". Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1864 (11): 1629–1643. doi:10.1016/j.bbalip.2019.07.012. PMID 31376476.
Held PK, Singh E, Scott Schwoerer J (February 2022). "Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations". International Journal of Neonatal Screening. 8 (1): 13. doi:10.3390/ijns8010013. PMC 8883915. PMID 35225935.
de Sain-van der Velden MG, van der Ham M, Jans JJ, Visser G, Prinsen HC, Verhoeven-Duif NM, et al. (2016). Morava E, Baumgartner M, Patterson M, Rahman S (eds.). "A New Approach for Fast Metabolic Diagnostics in CMAMMA". JIMD Reports. 30. Berlin, Heidelberg: Springer Berlin Heidelberg: 15–22. doi:10.1007/8904_2016_531. ISBN 978-3-662-53680-3. PMC 5110436. PMID 26915364.
de Wit MC, de Coo IF, Verbeek E, Schot R, Schoonderwoerd GC, Duran M, et al. (February 2006). "Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency". Molecular Genetics and Metabolism. 87 (2): 102–106. doi:10.1016/j.ymgme.2005.09.009. PMID 16275149.
Fowler B, Leonard JV, Baumgartner MR (June 2008). "Causes of and diagnostic approach to methylmalonic acidurias" (PDF). Journal of Inherited Metabolic Disease. 31 (3): 350–360. doi:10.1007/s10545-008-0839-4. PMID 18563633.
Brennerová K, Škopková M, Ostrožlíková M, Šaligová J, Staník J, Bzdúch V, et al. (December 2021). "Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report". BMC Pediatrics. 21 (1): 578. doi:10.1186/s12887-021-03067-3. PMC 8675494. PMID 34915869.
Linnell JC, Matthews DM, England JM (November 1978). "Therapeutic misuse of cyanocobalamin". Lancet. 2 (8098): 1053–1054. doi:10.1016/s0140-6736(78)92379-6. PMID 82069. S2CID 29703726.
An D, Schneller JL, Frassetto A, Liang S, Zhu X, Park JS, et al. (December 2017). "Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia". Cell Reports. 21 (12): 3548–3558. doi:10.1016/j.celrep.2017.11.081. PMC 9667413. PMID 29262333.
Martini PG, Guey LT (October 2019). "A New Era for Rare Genetic Diseases: Messenger RNA Therapy". Human Gene Therapy. 30 (10): 1180–1189. doi:10.1089/hum.2019.090. PMID 31179759.
Armstrong AJ, Collado MS, Henke BR, Olson MW, Hoang SA, Hamilton CA, et al. (May 2021). "A novel small molecule approach for the treatment of propionic and methylmalonic acidemias". Molecular Genetics and Metabolism. 133 (1): 71–82. doi:10.1016/j.ymgme.2021.03.001. PMC 9109253. PMID 33741272.
Subramanian C, Frank MW, Sukhun R, Henry CE, Wade A, Harden ME, et al. (January 2024). "Pantothenate Kinase Activation Restores Brain Coenzyme A in a Mouse Model of Pantothenate Kinase-Associated Neurodegeneration". The Journal of Pharmacology and Experimental Therapeutics. 388 (1): 171–180. doi:10.1124/jpet.123.001919. PMID 37875310.
Oberholzer VG, Levin B, Burgess EA, Young WF (October 1967). "Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis". Archives of Disease in Childhood. 42 (225): 492–504. doi:10.1136/adc.42.225.492. PMC 2019805. PMID 6061291.
Han L, Wu S, Han F, Gu X (Jun 15, 2015). "Insights into the molecular mechanisms of methylmalonic acidemia using microarray technology". International Journal of Clinical and Experimental Medicine. 8 (6): 8866–8879. PMC 4538064. PMID 26309541.
Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, et al. (April 2009). "Mitochondrial dysfunction in mut methylmalonic acidemia". FASEB Journal. 23 (4): 1252–1261. doi:10.1096/fj.08-121848. PMC 2660647. PMID 19088183.
Underhill HR, Hahn SH, Hale SL, Merritt JL (December 2013). "Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L)". Pediatrics International. 55 (6): e156 – e158. doi:10.1111/ped.12195. PMID 24330302. S2CID 27495325.

ncbi.nlm.nih.gov

Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, et al. (August 2011). "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria". Nature Genetics. 43 (9): 883–886. doi:10.1038/ng.908. PMC 3163731. PMID 21841779.
Saini N, Malhotra A, Chhabra S, Chhabra S (March 2015). "Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants". Indian Journal of Critical Care Medicine. 19 (3): 183–185. doi:10.4103/0972-5229.152776. PMC 4366921. PMID 25810618.
Manoli I, Sloan JL, Venditti CP (2016). "Isolated Methylmalonic Acidemia". In Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, Amemiya A (eds.). GeneReviews® [Internet]. University of Washington. PMID 20301409. NBK1231.
Sloan JL, Carrillo N, Adams D, Venditti CP (December 2021) [February 2008]. "Disorders of Intracellular Cobalamin Metabolism". In Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, Amemiya A (eds.). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. PMID 20301503.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, et al. (September 2014). "Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia". Orphanet Journal of Rare Diseases. 9 (1): 130. doi:10.1186/s13023-014-0130-8. PMC 4180313. PMID 25205257.
Gabriel MC, Rice SM, Sloan JL, Mossayebi MH, Venditti CP, Al-Kouatly HB (April 2021). "Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria". Molecular Genetics & Genomic Medicine. 9 (4): e1621. doi:10.1002/mgg3.1621. PMC 8123733. PMID 33625768.
Held PK, Singh E, Scott Schwoerer J (February 2022). "Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations". International Journal of Neonatal Screening. 8 (1): 13. doi:10.3390/ijns8010013. PMC 8883915. PMID 35225935.
de Sain-van der Velden MG, van der Ham M, Jans JJ, Visser G, Prinsen HC, Verhoeven-Duif NM, et al. (2016). Morava E, Baumgartner M, Patterson M, Rahman S (eds.). "A New Approach for Fast Metabolic Diagnostics in CMAMMA". JIMD Reports. 30. Berlin, Heidelberg: Springer Berlin Heidelberg: 15–22. doi:10.1007/8904_2016_531. ISBN 978-3-662-53680-3. PMC 5110436. PMID 26915364.
Brennerová K, Škopková M, Ostrožlíková M, Šaligová J, Staník J, Bzdúch V, et al. (December 2021). "Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report". BMC Pediatrics. 21 (1): 578. doi:10.1186/s12887-021-03067-3. PMC 8675494. PMID 34915869.
An D, Schneller JL, Frassetto A, Liang S, Zhu X, Park JS, et al. (December 2017). "Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia". Cell Reports. 21 (12): 3548–3558. doi:10.1016/j.celrep.2017.11.081. PMC 9667413. PMID 29262333.
Armstrong AJ, Collado MS, Henke BR, Olson MW, Hoang SA, Hamilton CA, et al. (May 2021). "A novel small molecule approach for the treatment of propionic and methylmalonic acidemias". Molecular Genetics and Metabolism. 133 (1): 71–82. doi:10.1016/j.ymgme.2021.03.001. PMC 9109253. PMID 33741272.
Oberholzer VG, Levin B, Burgess EA, Young WF (October 1967). "Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis". Archives of Disease in Childhood. 42 (225): 492–504. doi:10.1136/adc.42.225.492. PMC 2019805. PMID 6061291.
Han L, Wu S, Han F, Gu X (Jun 15, 2015). "Insights into the molecular mechanisms of methylmalonic acidemia using microarray technology". International Journal of Clinical and Experimental Medicine. 8 (6): 8866–8879. PMC 4538064. PMID 26309541.
Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, et al. (April 2009). "Mitochondrial dysfunction in mut methylmalonic acidemia". FASEB Journal. 23 (4): 1252–1261. doi:10.1096/fj.08-121848. PMC 2660647. PMID 19088183.

nlm.nih.gov

"Methylmalonic acidemia". MedlinePlus Medical Encyclopedia. US National Library of Medicine. Retrieved 2024-05-01.
Lee KG. "Newborn screening tests". MedlinePlus Medical Encyclopedia. Division of Neonatology, Medical University of South Carolina. Retrieved April 26, 2016.

ghr.nlm.nih.gov

"Methylmalonic acidemia". Genetics Home Reference. US National Library of Medecine. 2015-10-26. Retrieved 2015-11-02.

omim.org

orpha.net

"Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency". Orphanet. Retrieved 2024-04-27.
"Vitamin B12-responsive methylmalonic acidemia type cblA". Orphanet. Retrieved 2024-04-27.
"Vitamin B12-responsive methylmalonic acidemia type cblB". Orphanet. Retrieved 2024-04-27.
"Vitamin B12-unresponsive methylmalonic acidemia type mut0". Orphanet. Retrieved 2024-04-27.
"Vitamin B12-unresponsive methylmalonic acidemia type mut-". Orphanet. Retrieved 2024-04-27.
"Methylmalonic acidemia with homocystinuria, type cblJ". Orphanet. Retrieved 2024-04-27.
"Combined malonic and methylmalonic acidemia". Orphanet. Retrieved 2024-04-27.
"Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency". Orphanet. Retrieved 2024-04-27.
"Imerslund-Gräsbeck syndrome". Orphanet. Retrieved 2024-04-27.
"Congenital intrinsic factor deficiency". Orphanet. Retrieved 2024-05-15.
"Methylmalonic aciduria due to transcobalamin receptor defect". Orphanet. Retrieved 2024-04-27.
"Methylmalonic acidemia with homocystinuria, type cblX". Orphanet. Retrieved 2024-04-27.
"Methylmalonic acidemia with homocystinuria type cblF". Orphanet. Retrieved 2024-04-27.
"Malonic aciduria". Orphanet. Retrieved 2024-04-27.
"Methylmalonic acidemia with homocystinuria, type cblC". Orphanet. Retrieved 2024-04-27.
"Methylmalonic acidemia with homocystinuria, type cblD". Orphanet. Retrieved 2024-04-27.
"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria". Orphanet. Retrieved 2024-05-11.
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The names methylmalonic acidemia and methylmalonic aciduria, which are also sometimes written as solid compounds (methylmalonicacidemia and methylmalonicaciduria), use the suffixes -emia and -uria and literally mean "[excess] methylmalonic acid in the blood" and "[excess] methylmalonic acid in the urine", respectively; they are used to label both the fluid analysis findings and the disease entity that causes them.