Malonyl-CoA decarboxylase deficiency: Long-term follow-up of a patient new clinical features and novel mutations
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health
Reference34 articles.
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2. Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I;Yamazaki;Biochim Biophys Acta,1996
3. The role of hypothalamic malonyl-CoA in energy homeostasis;Wolfgang;J Biol Chem,2006
4. The molecular basis of malonyl-CoA decarboxylase deficiency;FitzPatrick;Am J Hum Genet,1999
5. Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase;Gao;J Lipid Res,1999
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1. Clinical, biochemical and genetic characteristics and long-term follow-up of five patients with malonyl-CoA decarboxylase deficiency;Brain and Development;2024-10
2. Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review;European Journal of Medical Genetics;2023-12
3. 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
4. A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review;Frontiers in Pediatrics;2023-04-17
5. MCD Inhibits Lipid Deposition in Goat Intramuscular Preadipocytes;Genes;2023-02-08
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