(Q86652280)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24194272%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Differential diagnosis of (inherited) amino acid metabolism or transport disorders (English)

1 reference

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29 February 2020

author name string

W Blom

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24194272%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

J G Huijmans

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24194272%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

publication date

1 February 1992

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29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24194272%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

2

1 reference

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29 February 2020

issue

1-2

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29 February 2020

page(s)

25-67

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24194272%20AND%20SRC:MED&resulttype=core&format=json

Dicarboxylic aminoaciduria: an inborn error of glutamate and aspartate transport with metabolic implications, in combination with a hyperprolinemia.

29 February 2020

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Tryptophan and lysine metabolism in alpha-aminoadipic aciduria.

1 reference

12 December 2020

A clinical biochemist's view of the investigation of suspected inherited metabolic disease

1 reference

12 December 2020

Prenatal diagnosis of citrullinemia: elevated levels of citrulline in the amniotic fluid in the three affected pregnancies

1 reference

12 December 2020

IDIOPATHIC HYPERVALINEMIA: PROBABLY A NEW ENTITY OF INBORN ERROR OF VALINE METABOLISM

1 reference

12 December 2020

An isolated defect of the tubular cystine reabsorption in a family with idiopathic hypoparathyroidism

1 reference

12 December 2020

The detection of abnormal metabolites in MCAD deficiency: a new method

1 reference

12 December 2020

Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes

1 reference

12 December 2020

Folic acid dependent hypersarcosinaemia

1 reference

12 December 2020

Guanidino Compound Analysis as a Complementary Diagnostic Parameter for Hyperargininemia: Follow-Up of Guanidino Compound Levels during Therapy

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00806075

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24194272%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference