(Q46109468)

19 December 2017

title

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: initial presentation in a young adult (English)

1 reference

19 December 2017

author name string

S Reimão

1

1 reference

19 December 2017

C Morgado

2

1 reference

19 December 2017

I T Almeida

3

1 reference

19 December 2017

M Silva

4

1 reference

19 December 2017

H Corte Real

5

1 reference

19 December 2017

J Campos

6

1 reference

19 December 2017

publication date

24 February 2009

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19 December 2017

Journal of Inherited Metabolic Disease

published in

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19 December 2017

volume

32 Suppl 1

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19 December 2017

page(s)

S49-52

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19 December 2017

https://scigraph.springernature.com/pub.10.1007/s10545-009-1048-5

exact match

0 references

cites work

3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1048-5

The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1048-5

[3-Hydroxy-3-methyl-glutaryl-CoA-lyase deficiency as coma etiology in the neonatal period: case report]

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1048-5

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1048-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1048-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1048-5

MRI and MRS in HMG-CoA lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1048-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1048-5

3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia

21 January 2018

1 reference

12 December 2020

Patient with Defect in Leucine Metabolism

1 reference

12 December 2020

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

1 reference

12 December 2020

Corticospinal tract involvement in a patient with 3-HMG coenzyme A lyase deficiency

1 reference

12 December 2020

3-Hydroxy-3-methylglutaric aciduria in Portuguese population

1 reference

12 December 2020

CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase

1 reference

12 December 2020

MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency.

1 reference

12 December 2020

CT and MR of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

1 reference

12 December 2020

10.1007/S10545-009-1048-5

Identifiers

DOI

1 reference

19 December 2017

PubMed ID

19242819

1 reference

19 December 2017