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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1970 3
1973 1
1974 1
1975 3
1976 3
1977 2
1979 1
1980 1
1981 2
1982 2
1983 1
1984 1
1988 2
1989 2
1990 4
1991 3
1992 2
1994 6
1995 1
1997 1
1998 1
1999 6
2000 2
2001 2
2002 3
2003 1
2004 3
2005 6
2006 4
2007 7
2008 7
2009 8
2010 14
2011 14
2012 16
2013 21
2014 21
2015 38
2016 27
2017 13
2018 20
2019 25
2020 29
2021 28
2022 33
2023 23
2024 12

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363 results

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Page 1
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A. Baumgartner MR, et al. Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Orphanet J Rare Dis. 2014. PMID: 25205257 Free PMC article. Review.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR. Forny P, et al. J Inherit Metab Dis. 2021 May;44(3):566-592. doi: 10.1002/jimd.12370. Epub 2021 Mar 9. J Inherit Metab Dis. 2021. PMID: 33595124 Free PMC article.
Methylmalonic Acidemia.
Mahmud S, Awais Ul Hassan Shah S, Ali S. Mahmud S, et al. J Coll Physicians Surg Pak. 2015 Jun;25(6):462-4. J Coll Physicians Surg Pak. 2015. PMID: 26101005
Methylmalonic Acidemia (MMA) is an inborn error of metabolism that results in accumulation of methylmalonic acid in blood and increased excretion in urine. ...
Methylmalonic Acidemia (MMA) is an inborn error of metabolism that results in accumulation of methylmalonic acid in blood and …
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Yu Y, Shuai R, Liang L, Qiu W, Shen L, Wu S, Wei H, Chen Y, Yang C, Xu P, Chen X, Zou H, Feng J, Niu T, Hu H, Ye J, Zhang H, Lu D, Gong Z, Zhan X, Ji W, Gu X, Han L. Yu Y, et al. Mol Genet Genomic Med. 2021 Nov;9(11):e1822. doi: 10.1002/mgg3.1822. Epub 2021 Oct 20. Mol Genet Genomic Med. 2021. PMID: 34668645 Free PMC article.
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X, Wu D, Zhu L, Wang W, Yang R, Yang J, He Q, Zhu B, You Y, Xiao R, Zhao Z. Huang X, et al. Orphanet J Rare Dis. 2022 Feb 21;17(1):66. doi: 10.1186/s13023-022-02231-x. Orphanet J Rare Dis. 2022. PMID: 35193651 Free PMC article.
Importantly, 4 of the 77 newborns were diagnosed currently including 1 newborn with methylmalonic acidemia, 1 newborn with primary systemic carnitine deficiency and 2 newborns with Wilson's disease. ...
Importantly, 4 of the 77 newborns were diagnosed currently including 1 newborn with methylmalonic acidemia, 1 newborn with pri …
Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.
Carrillo-Carrasco N, Venditti CP. Carrillo-Carrasco N, et al. J Inherit Metab Dis. 2012 Jan;35(1):103-14. doi: 10.1007/s10545-011-9365-x. Epub 2011 Jul 12. J Inherit Metab Dis. 2012. PMID: 21748408 Free PMC article. Review.
Combined methylmalonic acidemia and homocystinuria, cblC type, is stated to be the most common inborn error of intracellular cobalamin metabolism. ...
Combined methylmalonic acidemia and homocystinuria, cblC type, is stated to be the most common inborn error of intracellular c …
Late-onset methylmalonic acidemia and homocysteinemia.
Brox-Torrecilla N, Arhip L, Miguélez-González M, Castellano-Gasch S, Contreras-Chicote A, Rodríguez-Ferrero ML, Motilla de la Cámara ML, Serrano-Moreno C, Cuerda Compes C. Brox-Torrecilla N, et al. Nutr Hosp. 2021 Jul 29;38(4):871-875. doi: 10.20960/nh.03623. Nutr Hosp. 2021. PMID: 34132563 Free article. English.
Introduction: cobalamin C (Cbl C) deficiency is the most common defect in intracellular cobalamin metabolism, associated with methylmalonic acidemia and homocystinuria. Its late clinical presentation is heterogeneous and may lead to a diagnostic delay. ...
Introduction: cobalamin C (Cbl C) deficiency is the most common defect in intracellular cobalamin metabolism, associated with methylmalon …
363 results