Literature DB >> 31101408

Early Onset Primary Adrenal Insufficiency in Males with Adrenoleukodystrophy: Case Series and Literature Review.

Liane Eng1, Molly O Regelmann2.   

Abstract

The lifetime risk for adrenal insufficiency in male children with adrenoleukodystrophy (ALD) is estimated at 80%-86%. Prior to newborn screening, male children with ALD were identified by family history or after symptom development. These young patients with ALD and adrenal insufficiency support newborn screening for ALD.
Copyright © 2019 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  newborn screening

Mesh：

Substances：

Year:  2019        PMID： 31101408     DOI： 10.1016/j.jpeds.2019.04.021

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  6 in total

Review 1.  The Changing Face of Adrenoleukodystrophy.

Authors:  Jia Zhu; Florian Eichler; Alessandra Biffi; Christine N Duncan; David A Williams; Joseph A Majzoub
Journal:  Endocr Rev       Date:  2020-08-01       Impact factor: 19.871

2.  Typical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohort.

Authors:  Chenhui Mao; Jie Li; Xinying Huang; Jie Wang; Shanshan Chu; Yao Zhang; Liling Dong; Caiyan Liu; Lin Lu; Ling Qiu; Wei Chen; Bin Peng; Liying Cui; Jing Gao
Journal:  Neurol Sci       Date:  2022-01-08       Impact factor: 3.830

3.  Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.

Authors:  Rinse W Barendsen; Inge M E Dijkstra; Wouter F Visser; Mariëlle Alders; Jet Bliek; Anita Boelen; Marelle J Bouva; Saskia N van der Crabben; Ellen Elsinghorst; Ankie G M van Gorp; Annemieke C Heijboer; Mandy Jansen; Yorrick R J Jaspers; Henk van Lenthe; Ingrid Metgod; Christiaan F Mooij; Elise H C van der Sluijs; A S Paul van Trotsenburg; Rendelien K Verschoof-Puite; Frédéric M Vaz; Hans R Waterham; Frits A Wijburg; Marc Engelen; Eugènie Dekkers; Stephan Kemp
Journal:  Front Cell Dev Biol       Date:  2020-06-17

4.  Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature.

Authors:  Bingzi Dong; Wenshan Lv; Lili Xu; Yuhang Zhao; Xiaofang Sun; Zhongchao Wang; Bingfei Cheng; Zhengju Fu; Yangang Wang
Journal:  Int J Endocrinol       Date:  2022-02-07       Impact factor: 2.803

5.  Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy.

Authors:  Rebecca E Wiersma; Ashish O Gupta; Troy C Lund; Kyriakie Sarafoglou; Elizabeth I Pierpont; Paul J Orchard; Bradley S Miller
Journal:  J Endocr Soc       Date:  2022-04-12

Review 6.  Monitoring for and Management of Endocrine Dysfunction in Adrenoleukodystrophy.

Authors:  Isha Kachwala; Molly O Regelmann
Journal:  Int J Neonatal Screen       Date:  2022-03-02
  6 in total

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