Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria (Q34471124)

2 August 2017

title

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria (English)

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alpha-aminoadipic and alpha-ketoadipic aciduria

2 August 2017

main subject

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3

Ronald J A Wanders

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2 August 2017

12

Hans R Waterham

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2 August 2017

11

Marinus Duran

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2 August 2017

7

George J G Ruijter

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2 August 2017

Jacob Hagen

1

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2 August 2017

Heleen te Brinke

2

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2 August 2017

Alida C Knegt

4

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2 August 2017

Esmee Oussoren

5

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2 August 2017

A Jeannette M Hoogeboom

6

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2 August 2017

Daniel Becker

8

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2 August 2017

Karl Otfried Schwab

9

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2 August 2017

Ingo Franke

10

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2 August 2017

Jörn Oliver Sass

13

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2 August 2017

Sander M Houten

14

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2 August 2017

publication date

10 April 2015

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Journal of Inherited Metabolic Disease

2 August 2017

published in

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2 August 2017

volume

38

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2 August 2017

issue

5

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2 August 2017

page(s)

873-879

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Structure-function relationships in the 2-oxo acid dehydrogenase family: substrate-specific signatures and functional predictions for the 2-oxoglutarate dehydrogenase-like proteins

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007/S10545-015-9841-9

Biochemical and clinical studies of a new case of α‐aminoadipic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-015-9841-9

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

21 January 2018

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https://api.crossref.org/works/10.1007/S10545-015-9841-9

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

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https://api.crossref.org/works/10.1007/S10545-015-9841-9

Identification of the human mitochondrial oxodicarboxylate carrier. Bacterial expression, reconstitution, functional characterization, tissue distribution, and chromosomal location

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-015-9841-9

Tryptophan and lysine metabolism in alpha-aminoadipic aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-015-9841-9

Genome sequencing identifies major causes of severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-015-9841-9

A new real-time PCR method to overcome significant quantitative inaccuracy due to slight amplification inhibition

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-015-9841-9

Genetic basis of hyperlysinemia

21 January 2018

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https://api.crossref.org/works/10.1007/S10545-015-9841-9

Alpha-amino adipic aciduria in an oligophrenic child.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-015-9841-9

Identification of N-acetyl-alpha-aminoadipic acid in the urine of a patient with alpha-aminoadipic and alpha-ketoadipic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-015-9841-9

Alpha-ketoadipic aciduria: degradation studies with fibroblasts,

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-015-9841-9

Urine screening for aminoacidopathies: Is it beneficial?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-015-9841-9

Alpha-ketoadipic aciduria: a description of a new metabolic error in lysine-tryptophan degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-015-9841-9

Multilayered genetic and omics dissection of mitochondrial activity in a mouse reference population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-015-9841-9

A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-015-9841-9

DHTKD1 is essential for mitochondrial biogenesis and function maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-015-9841-9

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 January 2018

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Alpha-aminoadipic aciduria: chemical and enzymatic studies

21 January 2018

1 reference

12 December 2020

Alpha-aminoadipic aciduria, a non-deleterious inborn metabolic defect.

1 reference

12 December 2020

alpha-Aminoadipic aciduria and persistence of fetal haemoglobin in an oligophrenic child

1 reference

12 December 2020

Long-term results of selective screening for inborn errors of metabolism

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12 December 2020

A patient with alpha-ketoadipic and alpha-aminoadipic aciduria

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12 December 2020

Normal kynurenine metabolism in 2-oxoadipic aciduria

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12 December 2020

Group tests for selective screening of inborn errors of metabolism

1 reference

12 December 2020

Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies

1 reference

12 December 2020

alpha-Aminoadipic and alpha-ketoadipic aciduria: detection of a new case by a screening program using two-dimensional thin layer chromatography of amino acids

1 reference

12 December 2020

Asymptomatic alpha-ketoadipic aciduria detected during a pilot study of neonatal urine screening

1 reference

12 December 2020

Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies

1 reference

12 December 2020

10.1007/S10545-015-9841-9

Identifiers

DOI

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Dimensions Publication ID

2 August 2017

1052184618

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