(Q69025896)

English

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

scientific article published on 01 February 1988

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scholarly article

1 reference

Europe PubMed Central

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29 September 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2452736%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

author name string

E F Robertson

1

1 reference

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29 September 2019

A Poulos

2

1 reference

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29 September 2019

P Sharp

3

1 reference

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29 September 2019

J Manson

4

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29 September 2019

G Wise

5

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29 September 2019

A Jaunzems

6

1 reference

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29 September 2019

R Carter

7

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29 September 2019

publication date

1 February 1988

1 reference

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29 September 2019

European Journal of Pediatrics

1 reference

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29 September 2019

147

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29 September 2019

133-142

1 reference

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29 September 2019

2

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29 September 2019

https://scigraph.springernature.com/pub.10.1007/bf00442210

0 references

Lysine metabolism in the rat brain: the pipecolic acid-forming pathway

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impaired plasmalogen metabolism in infantile Refsum's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phytanic acid in patients with Refsum's syndrome and response to dietary treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestan-26-oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pipecolic acid: origin, biosynthesis and metabolism in the brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heredopathia atactica polyneuritiformis (Refsum's disease): 1. Clinical features and dietary management

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Visualization of peroxisomes (microbodies) and mitochondria with diaminobenzidine

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased synthesis of hexacosanoic acid (C23:0) by cultured skin fibroblasts from patients with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN)

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adrenomyeloneuropathy--clinical and biochemical diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lysine metabolism in the human and the monkey: demonstration of pipecolic acid formation in the brain and other organs

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A milder variant of Zellweger syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The design of a diet restricted in saturated very long-chain fatty acids: therapeutic application in adrenoleukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

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/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Piperidine: a new neuromodulator or a hypogenic substance?

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple method for the isolation and purification of total lipides from animal tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

production of piperidine from pipecolic acid in the rat

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal disorders: a newly recognised group of genetic diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Electrophoretic study of pipecolic acid, a biogenic imino acid, in the mammalian brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/2452736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00442210

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2452736%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2452736%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

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