Malonyl-CoA Decarboxylase Deficiency Latest Advances

Journal: Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis

Published: March 05, 2018

Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.

Journal: Journal of the American Society for Mass Spectrometry

Published: November 16, 2016

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Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation.

Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation.

Clinical, biochemical and genetic characteristics and long-term follow-up of five patients with malonyl-CoA decarboxylase deficiency.

Clinical, biochemical and genetic characteristics and long-term follow-up of five patients with malonyl-CoA decarboxylase deficiency.

Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review.

Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review.

Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.

Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.

Malonyl coenzyme A decarboxylase deficiency with a novel mutation.

Malonyl coenzyme A decarboxylase deficiency with a novel mutation.

A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy.

A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy.

Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.

Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.

Typical or Atypical Hemolytic Uremic Syndrome and the Use of Eculizumab: 4 Illustrative Cases.

Typical or Atypical Hemolytic Uremic Syndrome and the Use of Eculizumab: 4 Illustrative Cases.

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.

Therapeutic plasma exchange in non-hematooncological disorders in pediatrics: A single center experience.

Therapeutic plasma exchange in non-hematooncological disorders in pediatrics: A single center experience.

Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.

Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.