(Q28290796)

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

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

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connective tissue

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inferred from title

neurodegeneration

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Marie-Cécile Nassogne

3

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Jean-Louis Dufier

4

object named as

Jean-Louis Dufier

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author name string

Matthias R Baumgartner

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Daniel Rabier

2

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Jean-Paul Padovani

5

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Pierre Kamoun

6

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David Valle

7

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Jean-Marie Saudubray

8

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language of work or name

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publication date

January 2005

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European Journal of Pediatrics

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164

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1

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31-6

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

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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

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10.1007/S00431-004-1545-3

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