Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia-Reference-Cited by-同舟云学术

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Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia

Published:2019-08-23 Issue:1 Volume:14 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Olivieri Giorgia,Pro Stefano,Diodato Daria,Di Capua Matteo,Longo Daniela,Martinelli Diego,Bertini Enrico,Dionisi-Vici Carlo

Funder

Italian Ministry of Health

Associazione la Vita è un Dono

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-019-1181-7.pdf

Reference38 articles.

1. Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012;7:32.

2. Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, et al. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders a successful strategy for clinical research of rare diseases. J Inherit Metab Dis. 2018. https://doi.org/10.1007/s10545-018-0222-z .

3. Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, et al. The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Orphanet J Rare Dis. 2015;10:29. https://doi.org/10.1186/s13023-015-0242-9 .

4. Lemay JF, Lambert MA, Mitchell GA, Vanasse M, Valle D, Arbour JF, et al. Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients. J Pediatr. 1992;121:725–30.

5. Salvi S, Santorelli FM, Bertini E, Boldrini R, Meli C, Donati A, et al. Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Neurology. 2001;57:911–4.

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