Adrenoleukodystrophy and related disorders
Author:
Publisher
Wiley
Subject
Genetics (clinical),Neuropsychology and Physiological Psychology,Pediatrics, Perinatology and Child Health
Reference85 articles.
1. X-linked adrenoleukodystrophy enigma: How does the ALD peroxisomal transporter mutation affect CNS glia?
2. Neonatal adrenoleukodystrophy.
3. Pseudo Infantile Refsum's Disease: Catalase-Deficient Peroxisomal Particles with Partial Deficiency of Plasmalogen Synthesis and Oxidation of Fatty Acids
4. Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.
Cited by 15 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD);Orphanet Journal of Rare Diseases;2024-03-19
2. Patient-Reported Impact of Symptoms in Adrenoleukodystrophy (PRISM-ALD);2023-05-18
3. Adrenal Gland;Non-Neoplastic Disorders of the Endocrine System;2022-11
4. PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome;Translational Pediatrics;2021-07
5. Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation;Journal of Pediatric Endocrinology and Metabolism;2020-03-26
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