A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment-Reference-Cited by-同舟云学术

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A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment

Published:2013-08 Issue:7 Volume:35 Page:675-680
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Celato Andrea,Mitola Chiara,Tolve Manuela,Giannini Maria Teresa,De Leo Sabrina,Carducci Claudia,Carducci Carla,Leuzzi Vincenzo

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference23 articles.

1. The molecular basis of malonyl-CoA decarboxylase deficiency;FitzPatrick;Am J Hum Genet,1999

2. Cloning and mutational analysis of human malonylcoenzyme A decarboxylase;Gao;J Lipid Res,1999

3. MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency;Sacksteder;J Biol Chem,1999

4. Malonic aciduria;Ozand;Brain Dev,1994

5. Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease;Krawinkel;J Inherit Metab Dis,1994

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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. Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family;International Journal of Molecular Sciences;2021-11-23

5. The return of malonyl-CoA to the brain: Cognition and other stories;Progress in Lipid Research;2021-01

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