HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation (Q83120625)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Carlo Dionisi-Vici

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Filippo Maria Santorelli

object named as

F M Santorelli

11

1 reference

ORCID Public Data File 2021

author name string

S Fecarotta

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

G Parenti

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

A Zuppaldi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

R Della Casa

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

M T Carbone

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

A Correra

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

G Torre

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

S Riva

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

G Andria

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

publication date

1 February 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

19 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

186-189

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601889%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10545-006-0120-7

19 January 2020

exact match

0 references

cites work

Ultrastructure of hepatic mitochondria in a child with hyperornithinemia, hyperammonemia, and homocitrullinuria

1 reference

12 December 2020

Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinaemia

1 reference

12 December 2020

A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein diet

1 reference

12 December 2020

Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation

1 reference

12 December 2020

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

1 reference

12 December 2020

Inborn errors presenting with liver dysfunction

1 reference

12 December 2020

Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family

1 reference

12 December 2020

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

1 reference

12 December 2020

A COLORIMETRIC DETERMINATION OF OROTIC ACID

1 reference

12 December 2020

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement

1 reference

12 December 2020

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)-syndrome. Ultrastructural changes of mitochondria in cultured dermal fibroblasts of three patients.

1 reference

12 December 2020

Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome: presentation as acute liver disease with coagulopathy

1 reference

12 December 2020