(Q45183924)

10 December 2017

title

Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood (English)

1 reference

10 December 2017

1 reference

1 reference

1 reference

Momoko Hachisu

1

1 reference

10 December 2017

Yoichiro Oda

2

1 reference

10 December 2017

Masahiro Goto

3

1 reference

10 December 2017

Keiko Kobayashi

4

1 reference

10 December 2017

Takeyori Saheki

5

1 reference

10 December 2017

Toshihiro Ohura

6

1 reference

10 December 2017

Seiji Noma

7

1 reference

10 December 2017

Sachiko Kitanaka

8

1 reference

10 December 2017

publication date

9 December 2004

1 reference

European Journal of Pediatrics

10 December 2017

published in

1 reference

10 December 2017

volume

164

1 reference

10 December 2017

issue

2

1 reference

10 December 2017

page(s)

109-110

1 reference

https://scigraph.springernature.com/pub.10.1007/s00431-004-1549-z

10 December 2017

exact match

0 references

cites work

Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease

1 reference

12 December 2020

Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.

1 reference

12 December 2020

A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency

1 reference

12 December 2020

Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)

1 reference

12 December 2020

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

1 reference

12 December 2020

Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy

1 reference

12 December 2020

10.1007/S00431-004-1549-Z

Identifiers

DOI

1 reference

Dimensions Publication ID

10 December 2017

1025092961

0 references

1 reference