Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders-Reference-Cited by-同舟云学术

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Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders

Published:2016-04-18 Issue:04 Volume:47 Page:205-220
ISSN:0174-304X
Container-title:Neuropediatrics
language:en
Short-container-title:Neuropediatrics

Author:

Ferdinandusse Sacha¹,Waterham Hans¹,Wanders Ronald¹,Engelen Marc²,Klouwer Femke²,Huffnagel Irene²,Poll-The Bwee²

Affiliation:

1. Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

2. Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

Publisher

Georg Thieme Verlag KG

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0036-1582140.pdf

Cited by 38 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. Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder;Ophthalmic Genetics;2024-04-25

2. Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders;Journal of Lipid Research;2024-03

3. Research Progress of Peroxisome Biogenesis and Related Diseases;Pharmacy Information;2024

4. A clinical case of a familial form of hereditary metabolic disease from the group of peroxisomal diseases (D-bifunctional protein deficiency) in the neonatal period;Medical Herald of the South of Russia;2023-03-28

5. The physiological functions of human peroxisomes;Physiological Reviews;2023-01-01

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