(Q72360378)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6076999%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

Familial protein intolerance with deficient transport of basic amino acids. An analysis of 10 patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6076999%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Familial Protein Intolerance with Deficient Transport of Basic Amino Acids: An Analysis of 10 Patients (English)

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1967.TB15988.X

31 July 2023

author name string

M. Kekomäki

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6076999

31 July 2023

J. K. Visakorpi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6076999

31 July 2023

J. Perheentupa

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6076999

31 July 2023

L. Saxén

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6076999

31 July 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6076999

31 July 2023

publication date

1 November 1967

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6076999%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

26 October 2019

number of pages

14

1 reference

based on heuristic

inferred from page(s)

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1651-2227.1967.tb15988.x

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1967.TB15988.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.1967.tb15988.x/fullpdf

31 July 2023

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1967.TB15988.X

Acta Paediatrica Scandinavica

31 July 2023

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6076999%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

volume

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6076999%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6076999%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

page(s)

617-630

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6076999%20AND%20SRC:MED&resulttype=core&format=json

A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.

26 October 2019

cites work

1

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1967.TB15988.X

Amino acid clearances in cystinuria

31 July 2023

2

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1967.TB15988.X

A familial study of a human enzyme defect, argininosuccinic aciduria

31 July 2023

5

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1967.TB15988.X

The influence of chronic undernutrition on bone growth in children.

31 July 2023

7

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1967.TB15988.X

Inulin and endogenous amino acid renal clearances in cystinuria: evidence for tubular secretion

31 July 2023

10

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1967.TB15988.X

CYSTINURIA IN SWEDEN. VIII. A CASE OF COELIAC DISEASE ASSOCIATED WITH CYSTINE-LYSINURIA

31 July 2023

12

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1967.TB15988.X

Phenotypes and genotypes in cystinuria

31 July 2023

13

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1967.TB15988.X

Enzymes of Urea Synthesis in Familial Protein Intolerance with Deficient Transport of Basic Amino Acids

31 July 2023

16

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1967.TB15988.X

Plasma growth hormone after arginine infusion. Clinical experiences

31 July 2023

19

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1967.TB15988.X

Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia

31 July 2023

21

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1967.TB15988.X

Protein intolerance with deficient transport of basic aminoacids. Another inborn error of metabolism

31 July 2023

22

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1967.TB15988.X

Cystinuria: biochemical evidence for three genetically distinct diseases

31 July 2023

24

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1967.TB15988.X

Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea

31 July 2023

25

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1967.TB15988.X

Excretion of amino acids in cystinuria

31 July 2023

28

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1967.TB15988.X

31 July 2023

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6076999%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference