ALLMedicine™ Methylmalonic Acidemia Center
Research & Reviews 317 results
https://doi.org/10.1038/s41436-021-01143-8 10.1056/NEJM198304143081501 10.1203/PDR.0b013e3180a0325f 10.1002/humu.20258 10.1002/humu.23013 10.1016/j.jpeds.2015.01.051 10.1002/lt.25304 10.1016/j.ymgme.2007.08.119 10.1007/s10545-014-9730-7 10.1002/jmd2.12088 10.1038/mt.2009.247 10.1016/j.celrep.2017.11.081 10.1038/gim.2013.42 10.1038/gim.2015.102 10.1016/0026-0495(90)90084-P 10.1007/PL00014275 10.1007/PL00014267 10.3109/00365516709076961 10.1203/00006450-197206000-00006 10.1016/S0140-6736(88)91898-3 10.1016/S0022-3476(89)80651-1 10.1007/BF02009661 10.1203/00006450-199107000-00004 10.1016/S0140-6736(89)92689-5 10.1088/1752-7155/5/4/046001 10.1542/peds.2011-1715 10.3945/ajcn.110.004341 10.1097/01.mco.0000222107.15548.f5 10.1113/jphysiol.1949.sp004363 10.1586/14737159.2015.982537 10.1016/j.annemergmed.2015.02.008 10.1007/s10545-018-0244-6 10.1002/(SICI)1098-1004(1997)9:1<1::AID-HUMU1>3.0.CO;2-E
Genetics in Medicine : Official Journal of the American C... Manoli I, Pass AR et. al.
Apr 6th, 2021 - To develop a safe and noninvasive in vivo assay of hepatic propionate oxidative capacity. A modified 1-13C-propionate breath test was administered to 57 methylmalonic acidemia (MMA) subjects, including 19 transplant recipients, and 16 healthy volu...
https://doi.org/10.1002/ajmg.a.62170
American Journal of Medical Genetics. Part A; Pillai NR, Miller D et. al.
Mar 17th, 2021 - Cobalamin J disease (CblJ) is an ultra-rare autosomal recessive disorder of intracellular cobalamin metabolism associated with combined methylmalonic acidemia and homocystinuria. It is caused by pathogenic variants in ABCD4, which encodes an ATP-b...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7945211
Orphanet Journal of Rare Diseases; Chen T, Liang L et. al.
Mar 11th, 2021 - Combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC defect) is the most common inborn error of cobalamin metabolism, and different approaches have been applied to its prenatal diagnosis. To evaluate the reliability of bioche...
https://doi.org/10.1016/j.clnu.2020.12.027
Clinical Nutrition (Edinburgh, Scotland); Molema F, Haijes HA et. al.
Jan 16th, 2021 - Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inborn errors of metabolism. While survival of MMA and PA patients has improved in recent decades, long-term outcome is still unsatisfactory. A protein restricted diet is the mainstay fo...
https://doi.org/10.1016/j.trre.2020.100592
Transplantation Reviews (Orlando, Fla.); Jiang YZ, Zhou GP et. al.
Jan 10th, 2021 - Background-objectives: Liver transplantation (LT) and combined liver and kidney transplantation (CLKT) have been proposed as enzyme replacement therapies for methylmalonic aciduria (MMA). We aimed to synthesize the available evidence on their safe...
Clinicaltrials.gov 317 results
https://doi.org/10.1038/s41436-021-01143-8 10.1056/NEJM198304143081501 10.1203/PDR.0b013e3180a0325f 10.1002/humu.20258 10.1002/humu.23013 10.1016/j.jpeds.2015.01.051 10.1002/lt.25304 10.1016/j.ymgme.2007.08.119 10.1007/s10545-014-9730-7 10.1002/jmd2.12088 10.1038/mt.2009.247 10.1016/j.celrep.2017.11.081 10.1038/gim.2013.42 10.1038/gim.2015.102 10.1016/0026-0495(90)90084-P 10.1007/PL00014275 10.1007/PL00014267 10.3109/00365516709076961 10.1203/00006450-197206000-00006 10.1016/S0140-6736(88)91898-3 10.1016/S0022-3476(89)80651-1 10.1007/BF02009661 10.1203/00006450-199107000-00004 10.1016/S0140-6736(89)92689-5 10.1088/1752-7155/5/4/046001 10.1542/peds.2011-1715 10.3945/ajcn.110.004341 10.1097/01.mco.0000222107.15548.f5 10.1113/jphysiol.1949.sp004363 10.1586/14737159.2015.982537 10.1016/j.annemergmed.2015.02.008 10.1007/s10545-018-0244-6 10.1002/(SICI)1098-1004(1997)9:1<1::AID-HUMU1>3.0.CO;2-E
Genetics in Medicine : Official Journal of the American C... Manoli I, Pass AR et. al.
Apr 6th, 2021 - To develop a safe and noninvasive in vivo assay of hepatic propionate oxidative capacity. A modified 1-13C-propionate breath test was administered to 57 methylmalonic acidemia (MMA) subjects, including 19 transplant recipients, and 16 healthy volu...
https://doi.org/10.1002/ajmg.a.62170
American Journal of Medical Genetics. Part A; Pillai NR, Miller D et. al.
Mar 17th, 2021 - Cobalamin J disease (CblJ) is an ultra-rare autosomal recessive disorder of intracellular cobalamin metabolism associated with combined methylmalonic acidemia and homocystinuria. It is caused by pathogenic variants in ABCD4, which encodes an ATP-b...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7945211
Orphanet Journal of Rare Diseases; Chen T, Liang L et. al.
Mar 11th, 2021 - Combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC defect) is the most common inborn error of cobalamin metabolism, and different approaches have been applied to its prenatal diagnosis. To evaluate the reliability of bioche...
https://doi.org/10.1016/j.clnu.2020.12.027
Clinical Nutrition (Edinburgh, Scotland); Molema F, Haijes HA et. al.
Jan 16th, 2021 - Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inborn errors of metabolism. While survival of MMA and PA patients has improved in recent decades, long-term outcome is still unsatisfactory. A protein restricted diet is the mainstay fo...
https://doi.org/10.1016/j.trre.2020.100592
Transplantation Reviews (Orlando, Fla.); Jiang YZ, Zhou GP et. al.
Jan 10th, 2021 - Background-objectives: Liver transplantation (LT) and combined liver and kidney transplantation (CLKT) have been proposed as enzyme replacement therapies for methylmalonic aciduria (MMA). We aimed to synthesize the available evidence on their safe...
