(Q38334347)

2 September 2017

title

Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients (English)

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2 September 2017

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intrahepatic cholestasis

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Yusaku Tazawa

1

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2 September 2017

Keiko Kobayashi

2

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2 September 2017

Daiki Abukawa

3

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2 September 2017

Ikuo Nagata

4

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2 September 2017

Shunichi Maisawa

5

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2 September 2017

Ryo Sumazaki

6

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2 September 2017

Toshiyuki Iizuka

7

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2 September 2017

Yoshito Hosoda

8

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2 September 2017

Manabu Okamoto

9

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2 September 2017

Jun Murakami

10

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2 September 2017

Shunsaku Kaji

11

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2 September 2017

Ayako Tabata

12

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2 September 2017

Yao Bang Lu

13

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2 September 2017

Osamu Sakamoto

14

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2 September 2017

Akira Matsui

15

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2 September 2017

Susumu Kanzaki

16

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2 September 2017

Goro Takada

17

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2 September 2017

Takeyori Saheki

18

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2 September 2017

Kazuie Iinuma

19

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2 September 2017

Toshihiro Ohura

20

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2 September 2017

language of work or name

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1 November 2004

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Molecular Genetics and Metabolism

2 September 2017

published in

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2 September 2017

volume

83

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2 September 2017

issue

3

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2 September 2017

page(s)

213-219

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

2 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

Neonatal presentation of adult-onset type II citrullinemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: clinical significance of portal vein imaging

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.018

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2004.06.018

1 reference

2 September 2017

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