A 12-month-old with hypotonia and developmental delays
Ames, Elizabeth et al. (2021), A 12-month-old with hypotonia and developmental delays, Dryad, Dataset, https://doi.org/10.5061/dryad.h44j0zpfz
This data shows the references cited in the case report for the diagnosis of a 12-month-old girl who was referred to the pediatric neuromuscular clinic for evaluation of hypotonia and weakness and ultimately found to have 2 variants of uncertain significance in the NFU1 gene (NM _001002755.2 c.398T>C; p.Leu133Pro and NM _001002755.2 c.299C>G; p.Ala100Gly). Biochemical testing including CSF metabolomics confirmed her diagnosis of NFU1-related multiple mitochondrial dysfunctions syndrome (type 1).
These are references cited in the case report:
1. Orsini JJ, Escolar ML, Wasserstein MP, Caggana M. Krabbe Disease.; 2018.
2. Srivastava S, Naidu S. Alexander Disease. University of Washington, Seattle; 2015.
3. Gomez-Ospina N. Arylsulfatase A Deficiency. University of Washington, Seattle; 2017.
4. Hobson GM, Kamholz J. PLP1-Related Disorders. University of Washington, Seattle; 2013.
5. Raymond G V, Moser AB, Fatemi A. X-Linked Adrenoleukodystrophy. GeneReviews. https://www.ncbi.nlm.nih.gov/books/NBK1315/. Published February 15, 2018. Accessed June 26, 2019.
6. Matalon R, Delgado L, Michals-Matalon K. Canavan Disease. University of Washington, Seattle; 2018.