Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency

Mol Genet Metab Rep. 2020 Jun 5:24:100608. doi: 10.1016/j.ymgmr.2020.100608. eCollection 2020 Sep.

Authors

Cristel C Chapel-Crespo^{1

2}, Ricardo Villalba³, Raymond Wang^{1

2}, Monica Boyer^{1

2}, Richard Chang^{1

2}, Hans R Waterham⁴, Jose E Abdenur^{1

2}

Affiliations

¹ CHOC Children's, Division of Metabolic Disorders, Orange, CA, USA.
² University of California, Irvine, Department of Pediatrics, Irvine, CA, USA.
³ Baystate Children's Specialty Center, Springfield, MA, USA.
⁴ Laboratory Genetic Metabolic Diseases, Academic Medical Center at the University of Amsterdam, Amsterdam, The Netherlands.

No abstract available

Publication types

Case Reports