(Q44357527)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971958%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters (English)

1 reference

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13 February 2020

1 reference

1 reference

5

1 reference

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13 February 2020

author name string

Nikolas Boy

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971958%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Gisela Haege

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971958%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Jana Heringer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971958%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Birgit Assmann

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971958%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Regina Ensenauer

6

1 reference

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13 February 2020

Esther M Maier

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971958%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Thomas Lücke

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971958%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Georg F Hoffmann

9

1 reference

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13 February 2020

Edith Müller

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971958%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Peter Burgard

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971958%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Stefan Kölker

12

1 reference

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13 February 2020

publication date

13 September 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971958%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

13 February 2020

published in

1 reference

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13 February 2020

volume

36

1 reference

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13 February 2020

issue

3

1 reference

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13 February 2020

page(s)

525-533

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971958%20AND%20SRC:MED&resulttype=core&format=json

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

13 February 2020

cites work

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Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina

21 January 2018

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

21 January 2018

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Glutaric aciduria type I: ultrasonographic demonstration of early signs

21 January 2018

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Pitfalls of measuring total blood calcium in patients with CKD

21 January 2018

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

21 January 2018

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

21 January 2018

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Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

21 January 2018

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Use of guidelines improves the neurological outcome in glutaric aciduria type I.

21 January 2018

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The unsolved puzzle of neuropathogenesis in glutaric aciduria type I.

21 January 2018

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Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency

21 January 2018

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

21 January 2018

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Diagnosis and management of glutaric aciduria type I--revised recommendations

21 January 2018

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

21 January 2018

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Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells

21 January 2018

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

21 January 2018

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Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case

21 January 2018

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

21 January 2018

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

21 January 2018

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Glutaric aciduria type I: outcome in the Republic of Ireland

21 January 2018

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Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A.

21 January 2018

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Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency

21 January 2018

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Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I

21 January 2018

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

21 January 2018

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Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency

21 January 2018

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Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency

21 January 2018

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Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans

21 January 2018

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Nutrition support for glutaric acidemia type I.

21 January 2018

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Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I

21 January 2018

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Mutation analysis in glutaric aciduria type I.

21 January 2018

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Perzentile für den Body-mass-Index für das Kindes- und Jugendalter unter Heranziehung verschiedener deutscher Stichproben

21 January 2018

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Glutaric aciduria type I and methylmalonic aciduria: simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus

21 January 2018

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12 December 2020

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

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12 December 2020

Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development

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12 December 2020

The LMS method for constructing normalized growth standards

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Apparent decreased energy requirements in children with organic acidemias: preliminary observations

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12 December 2020

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

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12 December 2020