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About 594 results

ALLMedicine™ Methylmalonic Acidemia Center

Research & Reviews  297 results

Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency.
https://doi.org/10.1212/WNL.0000000000010912
Neurology He R, Zhang H et. al.

Sep 18th, 2020 - To analyze the clinical characteristics of patients with hydrocephalus secondary to cblC deficiency, and to discuss the optimal strategies for assessing and treating such patients, the clinical and laboratory studies were performed in 70 patients....

Plasma methylcitric acid and its correlations with other disease biomarkers: The impact...
https://doi.org/10.1002/jimd.12287
Journal of Inherited Metabolic Disease REFERENCES; Maines E, Catesini G et. al.

Jul 18th, 2020 - Methylcitric acid (MCA) analysis has been mainly utilized for the diagnosis of propionate disorders or as a second-tier test in newborn screening, but its utility for patients monitoring still needs to be established. We explored the potential con...

Factors influencing in-hospital death for pediatric patients with isolated methylmaloni...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304167
Orphanet Journal of Rare Diseases; Jiang YZ, Shi Y et. al.

Jun 20th, 2020 - Patients with isolated methylmalonic acidemia (MMA) usually experience recurrent episodes of acute metabolic decompensation or metabolic stroke, require frequent hospitalization, and have a relatively high mortality rate. The aim of our study was ...

Methylmalonyl acidemia: from mitochondrial metabolism to defective mitophagy and disease.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469617
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...

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Clinicaltrials.gov  297 results

Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency.
https://doi.org/10.1212/WNL.0000000000010912
Neurology He R, Zhang H et. al.

Sep 18th, 2020 - To analyze the clinical characteristics of patients with hydrocephalus secondary to cblC deficiency, and to discuss the optimal strategies for assessing and treating such patients, the clinical and laboratory studies were performed in 70 patients....

Plasma methylcitric acid and its correlations with other disease biomarkers: The impact...
https://doi.org/10.1002/jimd.12287
Journal of Inherited Metabolic Disease REFERENCES; Maines E, Catesini G et. al.

Jul 18th, 2020 - Methylcitric acid (MCA) analysis has been mainly utilized for the diagnosis of propionate disorders or as a second-tier test in newborn screening, but its utility for patients monitoring still needs to be established. We explored the potential con...

Factors influencing in-hospital death for pediatric patients with isolated methylmaloni...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304167
Orphanet Journal of Rare Diseases; Jiang YZ, Shi Y et. al.

Jun 20th, 2020 - Patients with isolated methylmalonic acidemia (MMA) usually experience recurrent episodes of acute metabolic decompensation or metabolic stroke, require frequent hospitalization, and have a relatively high mortality rate. The aim of our study was ...

Methylmalonyl acidemia: from mitochondrial metabolism to defective mitophagy and disease.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469617
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...

see more →