HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation-Reference-Cited by-同舟云学术

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HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation

Published:2006-02 Issue:1 Volume:29 Page:186-189
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Fecarotta S.,Parenti G.,Vajro P.,Zuppaldi A.,Casa R. Della,Carbone M. T.,Correra A.,Torre G.,Riva S.,Dionisi-Vici C.,Santorelli F. M.,Andria G.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-006-0120-7

Reference14 articles.

1. Adachi T, Tanimura A, Asahina M (1963) A colorimetric determination of orotic acid. J Vitaminol (Kyoto) 127: 217–226.

2. Camacho JA, Obie C, Biery B, et al (1999) Hyperornithinaemia, hyperammonaemia, homocitrullinuria syndromes caused by mutations in a gene encoding a mitochondrial ornithine transporter. Nature Genetics 22: 151–158.

3. Clayton PT (2002) Inborn errors presenting with liver dysfunction. Semin Neonatol 7(1): 49–63.

4. Dionisi Vici C, Bachmann C, Gambarara M, Colombo JP, Sabetta G (1987) Hyperornithinaemia–hyperammonaemia–homocitrullinuria: low creatine excretion and effect of citrulline, arginine or ornithine supplement. Pediatr Res 22: 364–367.

5. Gjessing LR, Lunde HA, Undrum T, Broch H, Alme A, Lie SO (1986) A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low-protein diet. J Inherit Metab Dis 9: 186–192.

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1. Genetic aetiologies of acute liver failure;Journal of Inherited Metabolic Disease;2024-03-18

2. Late onset hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, presenting as recurrent metabolic encephalopathy, A case report;Annals of Medicine & Surgery;2022-12

3. Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report;Frontiers in Immunology;2022-05-27

4. Wilson\'s Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!;Euroasian Journal of Hepato-Gastroenterology;2021-10-22

5. Successful liver transplantation in hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome: Case report;Pediatric Transplantation;2020-12-14

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