Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database

Authors: Chelsey Chaehee Lim, Jerry Vockley, Otobo Ujah, Russell S. Kirby, Mathew J. Edick, Susan A. Berry, Georgianne L. Arnold

Source: Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100884- (2022)

Subject Terms: Inborn errors of metabolism, Genetics, Pediatrics, Fatty acid oxidation disorders, LCHAD, TFP, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000441; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/4c7f815751ce417692557d32da80b414

Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe

Authors: Tracy Brock Lowe, Jane DeLuca, Georgianne L. Arnold

Source: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-15 (2020)

Subject Terms: Phenylalanine hydroxylase deficiency, Phenylketonuria, Clinical guidelines, Management, Treatment recommendations, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01541-2; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/6dc44ebe087b41029b04082d0bba618c

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