(Q67560166)

English

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

scientific article published on 01 January 1992

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1405474%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis (English)

1 reference

Europe PubMed Central

PubMed publication ID

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15 September 2019

author name string

J. A. Smeitink

1

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23 September 2022

F. A. Beemer

2

1 reference

Europe PubMed Central

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23 September 2022

M. Espeel

3

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23 September 2022

R. A. Donckerwolcke

4

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23 September 2022

C. Jakobs

5

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23 September 2022

R. J. Wanders

6

1 reference

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23 September 2022

R. B. Schutgens

7

1 reference

Europe PubMed Central

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23 September 2022

F. Roels

8

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23 September 2022

M. Duran

9

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23 September 2022

L. Dorland

10

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23 September 2022

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National Center for Biotechnology Information

PubMed publication ID

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23 September 2022

publication date

1 January 1992

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15 September 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

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15 September 2019

15

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Europe PubMed Central

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15 September 2019

3

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Europe PubMed Central

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15 September 2019

377-380

1 reference

Europe PubMed Central

PubMed publication ID

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15 September 2019

A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405474

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405474

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405474

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical abnormalities in rhizomelic chondrodysplasia punctata

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405474

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal disorders in neurology

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405474

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heredopathia atactica polyneuritiformis (refsum's disease) treated by diet and plasma-exchange

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405474

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405474

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pristanic acid and phytanic acid in plasma from patients with a single peroxisomal enzyme deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405474

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF02435981

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1405474%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1405474%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

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