Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial-Reference-Cited by-同舟云学术

Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial

Published:2019-06-13 Issue:1 Volume:19 Page:
ISSN:1471-2431
Container-title:BMC Pediatrics
language:en
Short-container-title:BMC Pediatr

Author:

Nashabat Marwan,Obaid Abdulrahman,Al Mutairi Fuad,Saleh Mohammed,Elamin Mohammed,Ahmed Hind,Ababneh Faroug,Eyaid Wafaa,Alswaid Abdulrahman,Alohali Lina,Faqeih Eissa,Aljeraisy Majed,Hussein Mohamed A.,Alasmari Ali,Alfadhel Majid^ORCID

Funder

Orphan Europe

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1186/s12887-019-1571-y.pdf

Reference36 articles.

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2. Online Mendelian Inheritance in Man. Propionic Acidemia 2001 [04/30/2018]. Available from: http://www.omim.org/entry/606054 . Accessed 2 May 2019.

3. Hamilton RL, Haas RH, Nyhan WL, Powell HC, Grafe MR. Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions. J Child Neurol. 1995;10(1):25–30.

4. Chapman KA, Summar ML. Propionic acidemia consensus conference summary. Mol Genet Metab. 2012;105(1):3–4.

5. Coude FX, Sweetman L, Nyhan WL. Inhibition by propionyl-coenzyme a of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia. J Clin Invest. 1979;64(6):1544–51.

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