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1976 1
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1987 1
1990 2
1993 1
1994 1
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1997 2
1998 1
2000 2
2001 1
2002 1
2005 3
2006 1
2007 1
2008 2
2010 1
2011 6
2012 4
2013 5
2014 3
2015 6
2016 3
2017 1
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80 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.
New insights into the pathophysiology of methylmalonic acidemia.
Head PE, Meier JL, Venditti CP. Head PE, et al. J Inherit Metab Dis. 2023 May;46(3):436-449. doi: 10.1002/jimd.12617. J Inherit Metab Dis. 2023. PMID: 37078237 Free PMC article. Review.
Methylmalonic acidemia (MMA) is a severe inborn error of metabolism that is characterized by pleiotropic metabolic perturbations and multiorgan pathology. ...
Methylmalonic acidemia (MMA) is a severe inborn error of metabolism that is characterized by pleiotropic metabolic perturbatio …
Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.
Arhip L, Brox-Torrecilla N, Romero I, Motilla M, Serrano-Moreno C, Miguélez M, Cuerda C. Arhip L, et al. Orphanet J Rare Dis. 2024 Jan 20;19(1):20. doi: 10.1186/s13023-024-03021-3. Orphanet J Rare Dis. 2024. PMID: 38245797 Free PMC article. Review.
INTRODUCTION: Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. ...
INTRODUCTION: Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin meta …
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.
Raval DB, Merideth M, Sloan JL, Braverman NE, Conway RL, Manoli I, Venditti CP. Raval DB, et al. J Inherit Metab Dis. 2015 Sep;38(5):839-46. doi: 10.1007/s10545-014-9802-8. Epub 2015 Jan 8. J Inherit Metab Dis. 2015. PMID: 25567501 Free PMC article. Review.
METHODS: Pregnancies affected by maternal MMA were ascertained through study 04-HG-0127 "Clinical and Basic Investigations of Methylmalonic Acidemia and Related Disorders" (clinicaltrials.gov identifier: NCT00078078) and via literature review. ...
METHODS: Pregnancies affected by maternal MMA were ascertained through study 04-HG-0127 "Clinical and Basic Investigations of Methylmalon …
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
Pillai NR, Stroup BM, Poliner A, Rossetti L, Rawls B, Shayota BJ, Soler-Alfonso C, Tunuguntala HP, Goss J, Craigen W, Scaglia F, Sutton VR, Himes RW, Burrage LC. Pillai NR, et al. Mol Genet Metab. 2019 Dec;128(4):431-443. doi: 10.1016/j.ymgme.2019.11.001. Epub 2019 Nov 7. Mol Genet Metab. 2019. PMID: 31757659 Free PMC article. Review.
BACKGROUND: Organic acidemias, especially propionic acidemia (PA) and methylmalonic acidemia (MMA), may manifest clinically within the first few hours to days of life. ...
BACKGROUND: Organic acidemias, especially propionic acidemia (PA) and methylmalonic acidemia (MMA), may manifest clinically wi …
Optic neuropathy in methylmalonic acidemia and propionic acidemia.
Martinez Alvarez L, Jameson E, Parry NR, Lloyd C, Ashworth JL. Martinez Alvarez L, et al. Br J Ophthalmol. 2016 Jan;100(1):98-104. doi: 10.1136/bjophthalmol-2015-306798. Epub 2015 Jul 24. Br J Ophthalmol. 2016. PMID: 26209586 Review.
BACKGROUND: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. ...
BACKGROUND: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, mani …
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
Carrillo-Carrasco N, Chandler RJ, Venditti CP. Carrillo-Carrasco N, et al. J Inherit Metab Dis. 2012 Jan;35(1):91-102. doi: 10.1007/s10545-011-9364-y. Epub 2011 Jul 12. J Inherit Metab Dis. 2012. PMID: 21748409 Free PMC article. Review.
Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of intracellular cobalamin metabolism with a wide spectrum of clinical manifestations that is stated to be the most common inherited disorder of cobalamin metabolism. ...
Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of intracellular cobalamin metabolism with a …
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 …
80 results