Literature DB >> 35535056

Not all Patients with Citrullinemia Require Liver Transplant.

Anand V Kulkarni1, Narayan Vinu2, Madhusudhan R Lingala3, Srikanth Kulkarni4, Mithun Sharma1, Duvvuru N Reddy1, Padaki N Rao1.   

Abstract

Entities:  

Year:  2021        PMID： 35535056      PMCID： PMC9077155          DOI： 10.1016/j.jceh.2021.08.011

Source DB:  PubMed          Journal:  J Clin Exp Hepatol        ISSN： 0973-6883


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  7 in total

1.  Adult onset Type II Citrullinemia - A Great Masquerader.

Authors:  S Arora; M V Padma Srivastava; M B Singh; V Goyal; J Häberle; N Gupta; A Prabhakar; B Aggarwal; A Agarwal; V Y Vishnu
Journal:  QJM       Date:  2019-09-18

2.  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.

Authors:  Naoki Yamaguchi; Keiko Kobayashi; Tomotsugu Yasuda; Ikumi Nishi; Mikio Iijima; Masanori Nakagawa; Mitsuhiro Osame; Ikuko Kondo; Takeyori Saheki
Journal:  Hum Mutat       Date:  2002-02       Impact factor: 4.878

Review 3.  Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2.

Authors:  Yoshiyuki Okano; Toshihiro Ohura; Osamu Sakamoto; Ayano Inui
Journal:  Mol Genet Metab       Date:  2019-06-15       Impact factor: 4.797

4.  Hyperammonemia with citrullinemia.

Authors:  D Karnik; N Thomas; J Jacob; A Oommen
Journal:  Indian Pediatr       Date:  2004-08       Impact factor: 1.411

Review 5.  Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD).

Authors:  Takeyori Saheki; Keiko Kobayashi
Journal:  J Hum Genet       Date:  2002       Impact factor: 3.172

6.  Late-Onset Citrullinemia Type I: A Radiological Mimic of Herpes Encephalitis.

Authors:  Razia A Kadwa; Naveen Sankhyan; Chirag K Ahuja; Pratibha Singhi
Journal:  J Pediatr Neurosci       Date:  2019 Jan-Mar

7.  Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Authors:  Sunita Bijarnia-Mahay; Johannes Häberle; Anil B Jalan; Ratna Dua Puri; Sudha Kohli; Ketki Kudalkar; Véronique Rüfenacht; Deepti Gupta; Deepshikha Maurya; Jyotsna Verma; Yosuke Shigematsu; Seiji Yamaguchi; Renu Saxena; Ishwar C Verma
Journal:  Orphanet J Rare Dis       Date:  2018-10-01       Impact factor: 4.123
  7 in total

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