(Q41928613)

14 October 2017

title

5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia (English)

1 reference

5-oxoprolinase deficiency

14 October 2017

main subject

0 references

microcephaly

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author name string

E Mayatepek

1

1 reference

14 October 2017

G F Hoffmann

2

1 reference

14 October 2017

A Larsson

3

1 reference

14 October 2017

K Becker

4

1 reference

14 October 2017

H J Bremer

5

1 reference

14 October 2017

publication date

1 January 1995

1 reference

Journal of Inherited Metabolic Disease

14 October 2017

published in

1 reference

14 October 2017

volume

18

1 reference

14 October 2017

issue

1

1 reference

14 October 2017

page(s)

83-84

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00711382

14 October 2017

exact match

0 references

cites work

5-oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers--a new inborn error of the gamma-glutamyl cycle

1 reference

https://pubmed.ncbi.nlm.nih.gov/7542714

PubMed

reference URL

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Pyroglutamic aciduria (5-oxoprolinuria) without glutathione synthetase deficiency and with decreased pyroglutamate hydrolase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/7542714

PubMed

reference URL

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

5-Oxoprolinuria associated with 5-oxoprolinase deficiency; further evidence that this is a benign disorder.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7542714

PubMed

reference URL

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/BF00711382

1 reference

Dimensions Publication ID

14 October 2017

1015131465

0 references

1 reference