(Q28290796)

English

Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

scientific article

In more languages

Statements

scholarly article

0 references

Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline (English)

0 references

connective tissue

1 reference

based on heuristic

inferred from title

Marie-Cécile Nassogne

3

0 references

Jean-Louis Dufier

4

object named as

Jean-Louis Dufier

0 references

author name string

Matthias R Baumgartner

1

0 references

Daniel Rabier

2

0 references

Jean-Paul Padovani

5

0 references

Pierre Kamoun

6

0 references

David Valle

7

0 references

Jean-Marie Saudubray

8

0 references

language of work or name

0 references

publication date

January 2005

0 references

European Journal of Pediatrics

0 references

164

0 references

31-6

0 references

1

0 references

https://scigraph.springernature.com/pub.10.1007/s00431-004-1545-3

0 references

[A new inherited metabolic disease: delta1-pyrroline 5-carboxylate synthetase deficiency]

1 reference

https://pubmed.ncbi.nlm.nih.gov/15517380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lactate inhibits citrulline and arginine synthesis from proline in pig enterocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15517380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymological evidence for the indispensability of small intestine in the synthesis of arginine from glutamate. I. Pyrroline-5-carboxylate synthase

1 reference

https://pubmed.ncbi.nlm.nih.gov/15517380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition

1 reference

https://pubmed.ncbi.nlm.nih.gov/15517380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human brain-specific L-proline transporter: molecular cloning, functional expression, and chromosomal localization of the gene in human and mouse genomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15517380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Serum citrulline and rejection in small bowel transplantation: a preliminary report

1 reference

https://pubmed.ncbi.nlm.nih.gov/15517380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proline metabolism in cartilage: the importance of proline biosynthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15517380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?

1 reference

https://pubmed.ncbi.nlm.nih.gov/15517380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma citrulline: a marker of enterocyte mass in villous atrophy-associated small bowel disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15517380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

1 reference

https://pubmed.ncbi.nlm.nih.gov/15517380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00431-004-1545-3

0 references

Dimensions Publication ID

0 references

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q28290796&oldid=1931775015"