Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Unusual Clinical Course and Imaging of D-Bifunctional Protein Deficiency, a Rare Leukodystrophy.

Literature DB >> 30396834

Unusual Clinical Course and Imaging of D-Bifunctional Protein Deficiency, a Rare Leukodystrophy.

Amy Farkas¹, Ruba Al-Ramadhani², Kimberly McDonald², Meredith Jordan², David Joyner².

Abstract

Entities: Disease

Keywords: D-bifunctional protein deficiency; Female; HSD14B4 gene; Peroxisomal disease; X-linked adrenoleukodystrophy

Mesh：

Substances：

Year: 2018 PMID： 30396834 DOI： 10.1016/j.pediatrneurol.2018.09.001

Source DB: PubMed Journal: Pediatr Neurol ISSN： 0887-8994 Impact factor: 3.372

Keyword Cloud
Cited

× No keyword cloud information.

1 in total

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

Authors: Cristel C Chapel-Crespo; Ricardo Villalba; Raymond Wang; Monica Boyer; Richard Chang; Hans R Waterham; Jose E Abdenur
Journal: Mol Genet Metab Rep Date: 2020-06-05

1 in total