Molybdenum Cofactor Deficiency Presenting as Neonatal Hyperekplexia: A Clinical, Biochemical and Genetic Study-Reference-Cited by-同舟云学术

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Molybdenum Cofactor Deficiency Presenting as Neonatal Hyperekplexia: A Clinical, Biochemical and Genetic Study

Published:2005-12 Issue:6 Volume:36 Page:389-394
ISSN:0174-304X
Container-title:Neuropediatrics
language:de
Short-container-title:Neuropediatrics

Author:

Macaya A.,Brunso L.,Fernández-Castillo N.,Arranz J. A.,Ginjaar H. B.,Cuenca-León E.,Corominas R.,Roig M.,Cormand B.

Publisher

Georg Thieme Verlag KG

Subject

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

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-2005-872877.pdf

Cited by 29 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. Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies;Journal of Inherited Metabolic Disease;2024-04-16

2. Molybdenum Cofactor Deficiency (MoCD): Complementation Groups A–C;Genetic Syndromes;2023

3. Molybdenum Cofactor Deficiency in Humans;Molecules;2022-10-14

4. Expanding the Phenotype of Molybdenum Cofactor Deficiency in Neonates: Report of Two Cases;Journal of Pediatric Neurology;2021-08-11

5. Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B;CEN Case Reports;2021-01-27

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