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About 622 results

ALLMedicine™ Methylmalonic Acidemia Center

Research & Reviews  311 results

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...

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical an...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7792044
Orphanet Journal of Rare Diseases; Liang L, Shuai R et. al.

Jan 8th, 2021 - Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G > A (p.A55...

Anaesthetic considerations in a child with methylmalonic acidemia and its literature re...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733119
BMJ Case Reports; Gupta A, Dudeja Y et. al.

Dec 10th, 2020 - Methyl malonyl coenzyme A mutase deficiency is a rare autosomal inherited inborn error in branched-chain amino acid metabolism characterised by the accumulation of methylmalonic acids. There is relative paucity of literature regarding anaesthetic ...

Liver and/or kidney transplantation in amino and organic acid-related inborn errors of ...
https://doi.org/10.1002/jimd.12318
Journal of Inherited Metabolic Disease REFERENCES; Molema F, Martinelli D et. al.

Sep 30th, 2020 - This study provides a general overview on liver and/or kidney transplantation in patients with an amino and organic acid-related disorder (AOA) with the aim to investigate patient characteristics and global outcome in Europe. This study was an ini...

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Clinicaltrials.gov  311 results

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...

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical an...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7792044
Orphanet Journal of Rare Diseases; Liang L, Shuai R et. al.

Jan 8th, 2021 - Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G > A (p.A55...

Anaesthetic considerations in a child with methylmalonic acidemia and its literature re...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733119
BMJ Case Reports; Gupta A, Dudeja Y et. al.

Dec 10th, 2020 - Methyl malonyl coenzyme A mutase deficiency is a rare autosomal inherited inborn error in branched-chain amino acid metabolism characterised by the accumulation of methylmalonic acids. There is relative paucity of literature regarding anaesthetic ...

Liver and/or kidney transplantation in amino and organic acid-related inborn errors of ...
https://doi.org/10.1002/jimd.12318
Journal of Inherited Metabolic Disease REFERENCES; Molema F, Martinelli D et. al.

Sep 30th, 2020 - This study provides a general overview on liver and/or kidney transplantation in patients with an amino and organic acid-related disorder (AOA) with the aim to investigate patient characteristics and global outcome in Europe. This study was an ini...

see more →