Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis-Reference-Cited by-同舟云学术

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis

Published:1992-05 Issue:3 Volume:15 Page:377-380
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Smeitink J. A. M.,Beemer F. A.,Espeel M.,Donckerwocke R. A. M. G.,Jakobs C.,Wanders R. J. A.,Schutgens R. B. H.,Roels F.,Duran M.,Dorland L.,Berger R.,Poll-The B. T.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF02435981

Reference9 articles.

1. Gibberd FB, Page NGR, Billimoria JD, Retas S (1979) Heredopathia atactica polyneuritiformis (Refsum's disease) treated by diet and plasma-exchange.Lancet,1: 575–578.

2. Hoefler G, Hoefler S, Watkins PA et al (1988) Biochemical abnormalities in rhizomelic chondrodysplasia punctata.J Pediatr 112: 726–733.

3. Pike MG, Applegarth DA, Dunn HG et al (1990) Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction.J Pediatr 116: 88–94.

4. Poll-The BT, Maroteaux P, Narcy C et al (1991) A new type of chondrodysplasia punctata associated with peroxisomal dysfuntion.J Inher Metab Dis 14: 361–363.

5. Robertson EF, Poulos A, Sharp P et al (1988) Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years.Eur J Pediatr 147: 133–142.

Cited by 55 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. Guidelines on the Use of Therapeutic Apheresis in Clinical Practice – Evidence‐Based Approach from the Writing Committee of the American Society for Apheresis: The Ninth Special Issue;Journal of Clinical Apheresis;2023-04

2. Peroxisomal Disorders;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022

3. Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata;Journal of Inherited Metabolic Disease;2021-01-26

4. Peroxisomal Disorders;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2021

5. Guidelines on the Use of Therapeutic Apheresis in Clinical Practice – Evidence‐Based Approach from the Writing Committee of the American Society for Apheresis: The Eighth Special Issue;Journal of Clinical Apheresis;2019-06