Δ 1 ‐Pyrroline‐5‐carboxylate synthetase deficiency: An emergent multifaceted urea cycle‐related disorder-Reference-Cited by-同舟云学术

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Δ 1 ‐Pyrroline‐5‐carboxylate synthetase deficiency: An emergent multifaceted urea cycle‐related disorder

Published:2020-02-09 Issue:4 Volume:43 Page:657-670
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Marco‐Marín Clara¹²,Escamilla‐Honrubia Juan M.¹²,Llácer José L.¹²,Seri Marco³⁴,Panza Emanuele³,Rubio Vicente¹²^ORCID

Affiliation:

1. Instituto de Biomedicina de Valencia of the CSIC Valencia Spain

2. Centro para Investigación Biomédica en Red sobre Enfermedades Raras CIBERER‐ISCIII Valencia Spain

3. Department of Medical and Surgical Sciences University of Bologna Bologna Italy

4. Medical Genetics Unit S. Orsola‐Malpighi University Hospital Bologna Italy

Funder

Secretaría de Estado de Investigación, Desarrollo e Innovación

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12220

Reference47 articles.

1. A new inherited metabolic disease: Δ1‐pyrroline 5‐carboxylate synthetase deficiency;Kamoun P;Bull Acad Natle Med,1998

2. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Delta1-pyrroline-5-carboxylate synthase

3. Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

4. A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome

5. Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS)

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