Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I) (Q79489164)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

title

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

1 reference

S Kölker

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

E Christensen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

J V Leonard

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

C R Greenberg

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

A B Burlina

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

A P Burlina

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

M Dixon

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

M Duran

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

S I Goodman

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

D M Koeller

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

E Müller

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

E R Naughten

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

E Neumaier-Probst

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

J G Okun

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

M Kyllerman

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

R A Surtees

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

B Wilcken

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

G F Hoffmann

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

P Burgard

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

publication date

3 January 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

23 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

volume

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

page(s)

5-22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17203377%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10545-006-0451-4

23 December 2019

exact match

0 references

cites work

Emergency treatment in glutaryl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Glutaric aciduria type I: ultrasonographic demonstration of early signs.

1 reference

12 December 2020

Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration

1 reference

12 December 2020

Macrocephaly, dystonia, and bilateral temporal arachnoid cysts: glutaric aciduria type 1.

1 reference

12 December 2020

Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort

1 reference

12 December 2020

Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1.

1 reference

12 December 2020

Emergency management of inherited metabolic diseases

1 reference

12 December 2020

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

12 December 2020

Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations

1 reference

12 December 2020

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions

1 reference

12 December 2020

Mutation analysis in glutaric aciduria type I.

1 reference

12 December 2020

Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options

1 reference

12 December 2020

Children with bilateral temporal arachnoid cysts may have glutaric aciduria type 1 (GAT1); operation without knowing that may be harmful

1 reference

12 December 2020

Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania

1 reference

12 December 2020

Bilateral arachnoid cysts of the sylvian region in female siblings with glutaric aciduria type I. Report of two cases

1 reference

12 December 2020

A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the island Lake variant of glutaric acidemia type I

1 reference

12 December 2020

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations

1 reference

12 December 2020

Maintenance treatment of glutaryl-CoA dehydrogenase deficiency.

1 reference

12 December 2020

Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed

1 reference

12 December 2020

Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders

1 reference

12 December 2020

Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada

1 reference

12 December 2020

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Magnetic resonance imaging of the brain in glutaric acidemia type I: a review of the literature and a report of four new cases with attention to the basal ganglia and imaging technique

1 reference

12 December 2020

Adult onset glutaric aciduria type I presenting with a leukoencephalopathy.

1 reference

12 December 2020

Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype.

1 reference

12 December 2020

Glutaric aciduria type I: outcome in the Republic of Ireland

1 reference

12 December 2020

Riboflavin-responsive glutaryl CoA dehydrogenase deficiency

1 reference

12 December 2020

A case of glutaric acidemia type I: effect of riboflavin and carnitine

1 reference

12 December 2020

Glutaric aciduria type 1: biochemical investigations and postmortem findings.

1 reference

12 December 2020

Nutrition support for glutaric acidemia type I.

1 reference

12 December 2020

Type I glutaric aciduria, part 1: natural history of 77 patients

1 reference

12 December 2020

Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Diffusion-weighted MR imaging and MR spectroscopy in glutaric aciduria type 1.

1 reference

12 December 2020

Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.

1 reference

12 December 2020

Protein requirements of infants and children

1 reference

12 December 2020

Subdural haematoma in a child with glutaric aciduria type I

1 reference

12 December 2020

Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families

1 reference

12 December 2020

Bilateral pallidotomy for severe dystonia in an 18-month-old child with glutaric aciduria

1 reference

12 December 2020

Glutaric aciduria: biochemical and morphologic considerations.

1 reference

12 December 2020

Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.

1 reference

12 December 2020

Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1.

1 reference

12 December 2020

Neonatal screening for glutaryl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Glutaric aciduria type I: value of diffusion-weighted magnetic resonance imaging for diagnosing acute striatal necrosis

1 reference

12 December 2020

Bilateral arachnoid cysts of the temporal fossa in four children with glutaric aciduria type I

1 reference

12 December 2020

The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.

1 reference

12 December 2020

Glutaric aciduria type 1 and nonaccidental head injury

1 reference

12 December 2020

Subdural hemorrhage as an initial sign of glutaric aciduria type 1: a diagnostic pitfall.

1 reference

12 December 2020

CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients

1 reference

12 December 2020

Reduction of lysine intake while avoiding malnutrition--major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I

1 reference

12 December 2020

Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I

1 reference

12 December 2020

Neuroimaging findings in glutaric aciduria type 1

1 reference

12 December 2020

Glutaric aciduria; A “new” disorder of amino acid metabolism

1 reference

12 December 2020

Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue

1 reference

12 December 2020

Intercurrent illness in inborn errors of intermediary metabolism

1 reference

12 December 2020

Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis

1 reference

12 December 2020

Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management

1 reference

12 December 2020

Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct

1 reference

12 December 2020

Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency).

1 reference

12 December 2020

L-carnitine treatment in glutaric aciduria type I.

1 reference

12 December 2020

Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds

1 reference

12 December 2020

Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy

1 reference

12 December 2020

Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening

1 reference

12 December 2020

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

1 reference

12 December 2020

Glutaric aciduria and suspected child abuse

1 reference

12 December 2020