(Q44438573)

3 December 2017

Clinical spectrum of succinic semialdehyde dehydrogenase deficiency (English)

1 reference

succinic semialdehyde dehydrogenase deficiency

3 December 2017

0 references

6

M. A. Rogawski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12743223

1 January 2024

7

E. J. Novotny

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12743223

1 January 2024

author name string

P. L. Pearl

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12743223

1 January 2024

K. M. Gibson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12743223

1 January 2024

M. T. Acosta

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12743223

1 January 2024

L. G. Vezina

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12743223

1 January 2024

W. H. Theodore

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12743223

1 January 2024

A. Gropman

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12743223

1 January 2024

J. A. Conry

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12743223

1 January 2024

G. T. Berry

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12743223

1 January 2024

M. Tuchman

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12743223

1 January 2024

language of work or name

English

0 references

publication date

1 May 2003

1 reference

3 December 2017

13 May 2003

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12743223

full work available at URL

1 January 2024

https://www.neurology.org/doi/pdfdirect/10.1212/01.WNL.0000059549.70717.80

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

1 January 2024

1 reference

3 December 2017

60

1 reference

3 December 2017

9

1 reference

3 December 2017

1413-1417

1 reference

4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism

3 December 2017

1

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

Inherited disorders of GABA metabolism

1 January 2024

2

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

Screening newborns for multiple organic acidurias in dried filter paper urine samples: method development

1 January 2024

5

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling

1 January 2024

6

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

Gamma-hydroxybutyric acid as a signaling molecule in brain

1 January 2024

8

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

Evidence for a G protein-coupled gamma-hydroxybutyric acid receptor

1 January 2024

9

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

GHB: a new and novel drug of abuse

1 January 2024

10

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

1 January 2024

11

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI of the brain and biochemical observations in a patient with 4-hydroxybutyric aciduria; a progressive neurometabolic disease.

1 January 2024

12

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

4-Hydroxybutyric aciduria: further clinical heterogeneity in a new case

1 January 2024

13

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

4-Hydroxybutyric aciduria

1 January 2024

14

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA)

1 January 2024

15

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy.

1 January 2024

16

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

MRI findings in succinic semialdehyde dehydrogenase deficiency

1 January 2024

17

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

The first case of 4-hydroxybutyric aciduria in Japan

1 January 2024

18

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

1 January 2024

19

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

Selective involvement of the globus pallidus and dentate nucleus in succinic semialdehyde dehydrogenase deficiency

1 January 2024

21

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency.

1 January 2024

22

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

Vigabatrin-associated retinal cone system dysfunction: electroretinogram and ophthalmologic findings.

1 January 2024

23

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase

1 January 2024

24

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

Naloxone reverses the inhibitory effect of gamma-hydroxybutyrate on central DA release in vivo in awake animals: a microdialysis study.

1 January 2024

25

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

Quality assessment of urinary organic acid analysis.

1 January 2024

26

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000059549.70717.80

1 January 2024

Identifiers

1 reference

3 December 2017

1 reference