Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency-Reference-Cited by-同舟云学术

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Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency

Published:2015-12 Issue:12 Volume:17 Page:965-970
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Mechler Konstantin,Mountford William K.,Hoffmann Georg F.,Ries Markus

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim201512.pdf

Reference20 articles.

1. Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.;Johnson,2001

2. The Human Gene Mutation Database at the University of Cardiff. Molybdenum Cofactor Synthesis 1. http://www.hgmd.cf.ac.uk/ac/gene.php?gene=MOCS1. Accessed 1 October 2014.

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1. Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay;Pediatrics;2024-05-29

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

3. Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports;Genetics in Medicine Open;2024

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

5. TO MARKET, TO MARKET–2021: SMALL MOLECULES;2022 Medicinal Chemistry Reviews;2022-12-21

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