(Q33992645)

30 July 2017

title

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria (English)

1 reference

30 July 2017

Beatriz Puisac

1

1 reference

30 July 2017

María Arnedo

2

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30 July 2017

Cesar H Casale

3

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30 July 2017

María Pilar Ribate

4

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30 July 2017

Tomás Castiella

5

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30 July 2017

Feliciano J Ramos

6

1 reference

30 July 2017

Antonia Ribes

7

1 reference

30 July 2017

Celia Pérez-Cerdá

8

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30 July 2017

Nuria Casals

9

1 reference

30 July 2017

Fausto G Hegardt

10

1 reference

30 July 2017

Juan Pié

11

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30 July 2017

publication date

8 June 2010

1 reference

Journal of Inherited Metabolic Disease

30 July 2017

published in

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30 July 2017

volume

33

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30 July 2017

issue

4

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30 July 2017

page(s)

405-410

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describes a project that uses

30 July 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2903694/fullTextXML

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1007/s10545-010-9097-3

0 references

cites work

A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency

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Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria

28 July 2018

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Role of oxidative stress in pancreatic inflammation

28 July 2018

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Feasibility of pathways for transfer of acyl groups from mitochondria to the cytosol to form short chain acyl-CoAs in the pancreatic beta cell

28 July 2018

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Metabolic and genetic regulation of cardiac energy substrate preference

28 July 2018

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28 July 2018

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28 July 2018

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A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients

28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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Evidence of toxic metabolite stress in black South Africans with chronic pancreatitis

28 July 2018

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3-Hydroxy-3-methylglutaryl-CoA lyase is present in mouse and human liver peroxisomes

28 July 2018

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28 July 2018

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Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine

28 July 2018

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Effects of ketone bodies on insulin release and islet-cell metabolism in the rat

28 July 2018

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Cytosolic 3-hydroxy-3-methyl glutaryl coenzyme a synthase in rat brain: Properties and developmental change

28 July 2018

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Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

28 July 2018

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3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review

28 July 2018

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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients

28 July 2018

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3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method

28 July 2018

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Ketone bodies and islet function: 86Rb handling and metabolic data

28 July 2018

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28 July 2018

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3-Hydroxy-3-methylglutaric aciduria: 3-hydroxy-3-methylglutaryl-coenzyme A lyase levels in leucocytes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903694

3-Hydroxy-3-methylglutaric aciduria: deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903694

Intracellular localization of the 3-hydroxy-3-methylglutaryl coenzme A cycle enzymes in liver. Separate cytoplasmic and mitochondrial 3-hydroxy-3-methylglutaryl coenzyme A generating systems for cholesterogenesis and ketogenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903694

Striatum is more vulnerable to oxidative damage induced by the metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency as compared to liver.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903694

3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903694

The management of conditioned nutritional requirements in heart failure

29 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903694

The enzymatic cleavage of beta-hydroxy-beta-methylglutaryl coenzyme A to acetoacetate and acetyl coenzyme A.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903694

Regulation of mitochondrial sn-glycerol-3-phosphate acyltransferase activity: response to feeding status is unique in various rat tissues and is discordant with protein expression

29 October 2018

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Ketogenesis and cholesterol synthesis in normal and neoplastic tissues of the rat.

29 October 2018

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Lethal hypoglycemia in a child with a deficiency of 3-hydroxy-3-methylglutarylcoenzyme A lyase

29 October 2018

1 reference

12 December 2020

The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria

1 reference

12 December 2020

Effects of glucose and D-3-hydroxybutyrate on human pancreatic islet cell function

1 reference

12 December 2020

Serum measurements of pancreatitis associated protein in active Crohn's disease with ileal location

1 reference

12 December 2020

Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

1 reference

12 December 2020

A rare cause of hepatomegaly: 3-hydroxy-3-methylglutaryl coenzyme-a lyase deficiency

1 reference

12 December 2020

Cerebral infarction and pancreatitis: possible complications of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

1 reference

12 December 2020

A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

1 reference

12 December 2020

10.1007/S10545-010-9097-3

Identifiers

DOI

1 reference

Dimensions Publication ID

30 July 2017

0 references

1 reference

30 July 2017

1 reference