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About 582 results

ALLMedicine Methylmalonic Acidemia Center

Research & Reviews  291 results

Methylmalonyl acidemia: from mitochondrial metabolism to defective mitophagy and disease.
https://doi.org/10.1080/15548627.2020.1753927
Autophagy Luciani A, Devuyst O

Apr 22nd, 2020 - Methylmalonic acidemia (MMA) is an autosomal recessive inborn error of metabolism due to the deficiency of mitochondrial MMUT (methylmalonyl-CoA mutase) - an enzyme that mediates the cellular breakdown of certain amino acids and lipids. The loss o...

Cobalamin C deficiency presenting with diffuse alveolar hemorrhage and pulmonary microa...
https://doi.org/10.1002/ppul.24781
Pediatric Pulmonology REFERENCES; Liu J, Tang X et. al.

Apr 15th, 2020 - Combined methylmalonic acidemia and homocysteinemia is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism, which consists of five subtypes including cblC, cblD, cblF, cblJ, and cblX deficiencies. The purpose of this st...

Post-transplantation Outcomes in Patients with PA or MMA: A Review of the Literature.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141097
Advances in Therapy; Yap S, Vara R et. al.

Apr 9th, 2020 - Liver transplantation is recognised as a treatment option for patients with propionic acidemia (PA) and those with methylmalonic acidemia (MMA) without renal impairment. In patients with MMA and moderate-to-severe renal impairment, combined liver-...

Clinical and Laboratory Study of Methylmalonic Acidemia
https://clinicaltrials.gov/ct2/show/NCT00078078

Apr 6th, 2020 - Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations. Affected patients with cblA, cblB and mut classes of MMA are medically fragile and can suffer ...

The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth ...
https://doi.org/10.1093/hmg/ddaa044
Human Molecular Genetics; Sloan JL, Achilly NP et. al.

Mar 17th, 2020 - Cobalamin C deficiency (cblC), the most common inborn error of intracellular cobalamin metabolism, is caused by mutations in MMACHC, a gene responsible for the processing and intracellular trafficking of vitamin B12. This recessive disorder is cha...

see more →

Clinicaltrials.gov  291 results

Methylmalonyl acidemia: from mitochondrial metabolism to defective mitophagy and disease.
https://doi.org/10.1080/15548627.2020.1753927
Autophagy Luciani A, Devuyst O

Apr 22nd, 2020 - Methylmalonic acidemia (MMA) is an autosomal recessive inborn error of metabolism due to the deficiency of mitochondrial MMUT (methylmalonyl-CoA mutase) - an enzyme that mediates the cellular breakdown of certain amino acids and lipids. The loss o...

Cobalamin C deficiency presenting with diffuse alveolar hemorrhage and pulmonary microa...
https://doi.org/10.1002/ppul.24781
Pediatric Pulmonology REFERENCES; Liu J, Tang X et. al.

Apr 15th, 2020 - Combined methylmalonic acidemia and homocysteinemia is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism, which consists of five subtypes including cblC, cblD, cblF, cblJ, and cblX deficiencies. The purpose of this st...

Post-transplantation Outcomes in Patients with PA or MMA: A Review of the Literature.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141097
Advances in Therapy; Yap S, Vara R et. al.

Apr 9th, 2020 - Liver transplantation is recognised as a treatment option for patients with propionic acidemia (PA) and those with methylmalonic acidemia (MMA) without renal impairment. In patients with MMA and moderate-to-severe renal impairment, combined liver-...

Clinical and Laboratory Study of Methylmalonic Acidemia
https://clinicaltrials.gov/ct2/show/NCT00078078

Apr 6th, 2020 - Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations. Affected patients with cblA, cblB and mut classes of MMA are medically fragile and can suffer ...

The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth ...
https://doi.org/10.1093/hmg/ddaa044
Human Molecular Genetics; Sloan JL, Achilly NP et. al.

Mar 17th, 2020 - Cobalamin C deficiency (cblC), the most common inborn error of intracellular cobalamin metabolism, is caused by mutations in MMACHC, a gene responsible for the processing and intracellular trafficking of vitamin B12. This recessive disorder is cha...

see more →