(Q44971224)

English

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

scientific article published in January 1986

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

0 references

Pipecolic acidemia

1 reference

based on heuristic

inferred from title

author name string

Budden SS

1

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

Kennaway NG

2

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

Buist NR

3

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

Poulos A

4

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

Weleber RG

5

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

language of work or name

0 references

publication date

1 January 1986

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

The Journal of Pediatrics

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Europe PubMed Central

PubMed publication ID

7 December 2017

108

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

33-39

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

Conversion of U-C14-phytol to phytanic acid and its oxidation in heredopathia atactica polyneuritiformis

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

Patterns of Refsum's disease. Phytanic acid oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

New phenotypic variant of adrenoleukodystrophy. Pathologic, ultrastructural, and biochemical study in two brothers

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

Ophthalmic manifestations of infantile phytanic acid storage disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

Adrenomyeloneuropathy--clinical and biochemical diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

[Increased concentration of phytanic acid in plasma and liver of an infant with cerebral damage of unknown etiology (author's transl)]

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

REFSUM'S SYNDROME: REPORT OF A CASE INCLUDING ELECTRON MICROSCOPIC STUDIES OF THE LIVER

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

Hyperpipecolic acidemia in neonatal adrenoleukodystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

Hyperpipecolic acidemia. Occurrence in an infant with clinical findings of the cerebrohepatorenal (Zellweger) syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980765-X

7 January 2021

Identifiers

10.1016/S0022-3476(86)80765-X

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

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