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About 634 results

ALLMedicine™ Methylmalonic Acidemia Center

Research & Reviews  317 results

Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelo...
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...

Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalo...
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...

High protein prescription in methylmalonic and propionic acidemia patients and its nega...
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...

Safety and efficacy of liver transplantation for methylmalonic acidemia: A systematic r...
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...

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Clinicaltrials.gov  317 results

Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelo...
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...

Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalo...
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...

High protein prescription in methylmalonic and propionic acidemia patients and its nega...
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...

Safety and efficacy of liver transplantation for methylmalonic acidemia: A systematic r...
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...

see more →