P5CS expression study in a new family with ALDH18A1 ‐associated hereditary spastic paraplegia SPG9-Reference-Cited by-同舟云学术

P5CS expression study in a new family with ALDH18A1 ‐associated hereditary spastic paraplegia SPG9

Published:2019-07-19 Issue: Volume: Page:
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Magini Pamela¹,Marco‐Marin Clara²³^ORCID,Escamilla‐Honrubia Juan M.²³,Martinelli Diego⁴,Dionisi-Vici Carlo⁴,Faravelli Francesca⁵,Forzano Francesca⁶,Seri Marco¹⁷,Rubio Vicente²³^ORCID,Panza Emanuele¹⁷^ORCID

Affiliation:

1. Medical Genetics Unit S. Orsola‐Malpighi Hospital Bologna Italy

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

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

4. Division of Metabolism Bambino Gesù Children’s Research Hospital Rome Italy

5. Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust London United Kingdom

6. Clinical Genetics Department, SE Thames Regional Genetics Service Guy's & St Thomas' NHS Foundation Trust London United Kingdom

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

Funder

Fondazione del Monte di Bologna e Ravenna

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.50821

Reference20 articles.

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4. Catalysts of the urea cycle;Jones ME;Trans N Y Acad Sci,1983

5. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Δ1‐pyrroline‐5‐carboxylate synthase;Baumgartner MR;Hum Mol Genet,2000

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