(Q44401569)

English

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

scientific article published on February 27, 2003

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scholarly article

1 reference

Europe PubMed Central

2 December 2017

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

1 reference

Europe PubMed Central

2 December 2017

intrahepatic cholestasis

1 reference

based on heuristic

inferred from title

author name string

Toshihiro Ohura

1

1 reference

Europe PubMed Central

2 December 2017

Keiko Kobayashi

2

1 reference

Europe PubMed Central

2 December 2017

Daiki Abukawa

3

1 reference

Europe PubMed Central

2 December 2017

Yusaku Tazawa

4

1 reference

Europe PubMed Central

2 December 2017

Jun-ichiro Aikawa

5

1 reference

Europe PubMed Central

2 December 2017

Osamu Sakamoto

6

1 reference

Europe PubMed Central

2 December 2017

Takeyori Saheki

7

1 reference

Europe PubMed Central

2 December 2017

Kazuie Iinuma

8

1 reference

Europe PubMed Central

2 December 2017

language of work or name

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12692712

23 December 2023

publication date

27 February 2003

1 reference

Europe PubMed Central

2 December 2017

European Journal of Pediatrics

1 reference

Europe PubMed Central

2 December 2017

162

1 reference

Europe PubMed Central

2 December 2017

5

1 reference

Europe PubMed Central

2 December 2017

317-322

1 reference

Europe PubMed Central

2 December 2017

https://scigraph.springernature.com/pub.10.1007/s00431-003-1171-5

0 references

Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/12692712

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A search for the primary abnormality in adult-onset type II citrullinemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12692712

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12692712

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal cholestasis. New approaches to diagnostic evaluation and therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12692712

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/12692712

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An undescribed subset of neonatal intrahepatic cholestasis associated with multiple hyperaminoacidemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/12692712

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal presentation of adult-onset type II citrullinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/12692712

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/12692712

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12692712

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12692712

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12692712

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12692712

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12692712

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12692712

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00431-003-1171-5

0 references

1 reference

Europe PubMed Central

2 December 2017

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