(Q57588495)

English

Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency

scientific article published on 01 February 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:1537353%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1537353%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

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21 September 2019

Carlo Dionisi-Vici

2

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21 September 2019

Barbara Garavaglia

3

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21 September 2019

Mario Sabatelli

5

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21 September 2019

author name string

A B Burlina

4

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21 September 2019

M Rimoldi

6

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21 September 2019

A Bartuli

7

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21 September 2019

G Sabetta

8

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21 September 2019

S DiDonato

9

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21 September 2019

publication date

1 February 1992

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21 September 2019

European Journal of Pediatrics

1 reference

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21 September 2019

151

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21 September 2019

2

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21 September 2019

121-126

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21 September 2019

https://scigraph.springernature.com/pub.10.1007/bf01958956

0 references

The Existence of Two Different h-3-Hydroxyacyl-Coenzyme A Dehydrogenases in Rat Tissues

1 reference

https://api.crossref.org/works/10.1007%2FBF01958956

21 January 2018

The oxoacyl-coenzyme A thiolases of animal tissues

1 reference

https://api.crossref.org/works/10.1007%2FBF01958956

21 January 2018

Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1537353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Very long chain fatty acid beta-oxidation by subcellular fractions of normal and Zellweger syndrome skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/1537353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

1 reference

https://pubmed.ncbi.nlm.nih.gov/1537353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1537353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

On the mechanism of malonyl-CoA-independent fatty acid synthesis. I. The mechanism of elongation of long-chain fatty acids by acetyl-CoA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1537353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1537353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/1537353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and properties of mitochondrial and peroxisomal 3-hydroxyacyl-CoA dehydrogenase from rat liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/1537353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood

1 reference

https://pubmed.ncbi.nlm.nih.gov/1537353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal disorders in neurology

1 reference

https://pubmed.ncbi.nlm.nih.gov/1537353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polyneuropathies in paediatrics

1 reference

https://pubmed.ncbi.nlm.nih.gov/1537353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dicarboxylic aciduria in an infant with spinal muscular atrophy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1537353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormalities of fatty acid oxidation

1 reference

https://pubmed.ncbi.nlm.nih.gov/1537353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein measurement with the Folin phenol reagent

1 reference

https://pubmed.ncbi.nlm.nih.gov/1537353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides

1 reference

https://pubmed.ncbi.nlm.nih.gov/1537353

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF01958956

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1537353%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1537353%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

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