(Q67674820)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700075%20AND%20SRC:MED&resulttype=core&format=json

16 September 2019

title

Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700075%20AND%20SRC:MED&resulttype=core&format=json

16 September 2019

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

2 November 2022

author name string

R. J. Wanders

1

1 reference

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2 November 2022

E. Boltshauser

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1700075

2 November 2022

B. Steinmann

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1700075

2 November 2022

M. A. Spycher

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1700075

2 November 2022

R. B. Schutgens

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1700075

2 November 2022

H. van den Bosch

6

1 reference

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2 November 2022

J. M. Tager

7

1 reference

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2 November 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1700075

2 November 2022

publication date

1 August 1990

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700075%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

16 September 2019

https://api.elsevier.com/content/article/PII:0022510X9090177O?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

https://api.elsevier.com/content/article/PII:0022510X9090177O?httpAccept=text/plain

2 November 2022

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Journal of the Neurological Sciences

2 November 2022

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700075%20AND%20SRC:MED&resulttype=core&format=json

16 September 2019

volume

98

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700075%20AND%20SRC:MED&resulttype=core&format=json

16 September 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700075%20AND%20SRC:MED&resulttype=core&format=json

16 September 2019

page(s)

1-11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700075%20AND%20SRC:MED&resulttype=core&format=json

The cerebro-hepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma

16 September 2019

cites work

1

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Peroxisomes in infantile phytanic acid storage disease: a cytochemical study of skin fibroblasts

2 November 2022

2

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis

2 November 2022

4

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children

2 November 2022

5

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome (Zellweger's syndrome) and its relationship to neonatal adrenoleukodystrophy

2 November 2022

6

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study

2 November 2022

7

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Morphology and distribution of cytoplasmic inclusions in adrenoleukodystrophy

2 November 2022

8

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

3-Hydroxy-3-methylglutaryl coenzyme A reductase localization in rat liver peroxisomes and microsomes of control and cholestyramine-treated animals: quantitative biochemical and immunoelectron microscopical analyses

2 November 2022

11

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

2 November 2022

12

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Polarizing inclusions in some organs of children with congenital peroxisomal diseases (Zellweger's, Refsum's, chondrodysplasia punctata (rhizomelic form), X-linked adrenoleukodystrophy)

2 November 2022

13

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Ultrastructure of the Liver in the Cerebrohepatorenal Syndrome of Zellweger

2 November 2022

15

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Absence of hepatic peroxisomes in a case of infantile Refsum's disease

2 November 2022

17

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Light and electron microscopic liver changes in the cerebro-hepato-renal syndrome of Zellweger (Peroxisome deficiency) (author's transl)

2 November 2022

18

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction

2 November 2022

19

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy

2 November 2022

20

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders

2 November 2022

21

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease

2 November 2022

22

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Patterns of Refsum's disease. Phytanic acid oxidase deficiency

2 November 2022

23

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?

2 November 2022

24

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

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

2 November 2022

26

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases

2 November 2022

27

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Peroxisomal membrane ghosts in Zellweger syndrome--aberrant organelle assembly

2 November 2022

28

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver

2 November 2022

30

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation

2 November 2022

31

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome

2 November 2022

32

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Infantile Refsum's disease: a generalized peroxisomal disorder. Case report with postmortem examination

2 November 2022

34

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Peroxisomal functions in classical Refsum's disease: comparison with the infantile form of Refsum's disease

2 November 2022

35

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

Peroxisomal disorders in neurology

2 November 2022

36

1 reference

https://api.crossref.org/works/10.1016/0022-510X(90)90177-O

2 November 2022

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700075%20AND%20SRC:MED&resulttype=core&format=json

16 September 2019

1 reference