Malonic aciduria
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health
Reference17 articles.
1. Malonyl coenzyme A decar☐ylase deficiency;Brown;J Inher Metab Dis,1984
2. Malonyl coenzyme A decar☐ylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect;Haan;Eur J Pediatr,1986
3. Malonyl coenzyme A decar☐ylase deficiency;MacPhee;Arch Dis Childh,1993
4. Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis;Hoffman;Clin Chem,1989
5. Separation and measurement of short-chain coenzyme-A compounds in rat liver by reverse-phase high-performance liquid chromatography;King;Anal Biochem,1975
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1. Disorders of organic acid metabolism and epilepsy;Acta Epileptologica;2024-08-20
2. Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review;Frontiers in Medicine;2023-05-03
3. Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family;International Journal of Molecular Sciences;2021-11-23
4. Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients;Molecular Genetics and Metabolism;2019-09
5. A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case;Clinical Case Reports;2017-06-28
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