Early cirrhosis in a patient with type I citrullinaemia (CTLN1)

Ş Güçer; E. Aşan; P. Atilla; A. Tokatl; M. Çaǧlar

doi:10.1023/B:BOLI.0000037401.63596.de

Early cirrhosis in a patient with type I citrullinaemia (CTLN1)

Ş Güçer
, E. Aşan
, P. Atilla
, A. Tokatl
, M. Çaǧlar

Division of Histology and Embryology (Medicine)

Hacettepe University

Research output: Contribution to journal › Article › peer-review

14 Citations (Scopus)

Abstract

A 17-month-old girl with type I classical citrullinaemia (CTLN1) presenting with early cirrhosis and unusual ultrastructural features of the liver is reported. The patient is homozygous for a splicing mutation in intron 15 of the argininosuccinate synthase gene.

Original language	English
Pages (from-to)	541-542
Number of pages	2
Journal	Journal of Inherited Metabolic Disease
Volume	27
Issue number	4
DOIs	https://doi.org/10.1023/B:BOLI.0000037401.63596.de
Publication status	Published - 2004

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title = "Early cirrhosis in a patient with type I citrullinaemia (CTLN1)",

abstract = "A 17-month-old girl with type I classical citrullinaemia (CTLN1) presenting with early cirrhosis and unusual ultrastructural features of the liver is reported. The patient is homozygous for a splicing mutation in intron 15 of the argininosuccinate synthase gene.",

author = "{\c S} G{\"u}{\c c}er and E. A{\c s}an and P. Atilla and A. Tokatl and M. {\c C}aǧlar",

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T1 - Early cirrhosis in a patient with type I citrullinaemia (CTLN1)

AU - Güçer, Ş

AU - Aşan, E.

AU - Atilla, P.

AU - Tokatl, A.

AU - Çaǧlar, M.

PY - 2004

Y1 - 2004

N2 - A 17-month-old girl with type I classical citrullinaemia (CTLN1) presenting with early cirrhosis and unusual ultrastructural features of the liver is reported. The patient is homozygous for a splicing mutation in intron 15 of the argininosuccinate synthase gene.

AB - A 17-month-old girl with type I classical citrullinaemia (CTLN1) presenting with early cirrhosis and unusual ultrastructural features of the liver is reported. The patient is homozygous for a splicing mutation in intron 15 of the argininosuccinate synthase gene.

UR - https://www.scopus.com/pages/publications/4344609708

U2 - 10.1023/B:BOLI.0000037401.63596.de

DO - 10.1023/B:BOLI.0000037401.63596.de

M3 - Article

C2 - 15334737

AN - SCOPUS:4344609708

SN - 0141-8955

VL - 27

SP - 541

EP - 542

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 4

ER -

Early cirrhosis in a patient with type I citrullinaemia (CTLN1)

Abstract

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