(Q69749275)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3816854%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

title

Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3816854%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

1 reference

A Poulos

1

1 reference

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5 October 2019

C van Crugten

2

1 reference

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5 October 2019

P Sharp

3

1 reference

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5 October 2019

W F Carey

4

1 reference

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5 October 2019

E Robertson

5

1 reference

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5 October 2019

D M Becroft

6

1 reference

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5 October 2019

J M Saudubray

7

1 reference

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5 October 2019

B T Poll-The

8

1 reference

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5 October 2019

E Christensen

9

1 reference

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5 October 2019

N Brandt

10

1 reference

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5 October 2019

publication date

1 December 1986

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3816854%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

5 October 2019

published in

1 reference

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5 October 2019

volume

145

1 reference

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5 October 2019

page(s)

507-510

1 reference

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5 October 2019

issue

6

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf02429053

5 October 2019

exact match

0 references

cites work

Prenatal detection of Zellweger syndrome

1 reference

12 December 2020

Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism

1 reference

12 December 2020

Accumulation and defective beta-oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants

1 reference

12 December 2020

Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.

1 reference

12 December 2020

Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase

1 reference

12 December 2020

Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.

1 reference

12 December 2020

Diagnosis of Refsum's disease using [1-14C]phytanic acid as substrate

1 reference

12 December 2020

Patterns of Refsum's disease. Phytanic acid oxidase deficiency

1 reference

12 December 2020

Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes.

1 reference

12 December 2020

Prenatal diagnosis of lysosomal storage diseases. Review of experience in 145 patient referrals over a period of eight years

1 reference

12 December 2020

Adrenomyeloneuropathy--clinical and biochemical diagnosis

1 reference

12 December 2020

The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens.

1 reference

12 December 2020

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

1 reference

12 December 2020

Chromosome analysis of first trimester chorionic villus biopsies prepared by a maceration technique

1 reference

12 December 2020

The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.

1 reference

12 December 2020

Antenatal diagnosis of infantile Refsum's disease

1 reference

12 December 2020

Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases

1 reference

12 December 2020

The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects

1 reference

12 December 2020

Defects of Bile Acid Synthesis in Zellweger's Syndrome

1 reference

12 December 2020

Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome).

1 reference

12 December 2020