Quantifying Kinematic Tremor in an NGLY1-Deficient Individual: A Case Study

Author:

Futrell Brock,Malaya Christopher Alexander,Diaz Dacia Martinez,Alfaro Christian,Gustafson Hannah Elizabeth,Chandrasekaran Subhalakshmi,Phatak Rhea Mohan,Suter Bernhard,Layne Charles Shannon

Publisher

Scientific Research Publishing, Inc.

Subject

General Medicine

Reference14 articles.

1. NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology

2. NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm

3. NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation

4. NGLY1 deficiency—A rare congenital disorder of deglycosylation

5. Lam, C., Wolfe, L., Need, A., Shashi, V. and Enns, G. (2023) NGLY1-Related Congenital Disorder of Deglycosylation. In: Adam, M.P., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J., Gripp, K.W. and Amemiya, A., Eds., GeneReviews®. University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/books/NBK481554/

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