4.4 Article

Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Endocrinology & Metabolism

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

Yoshiyuki Okano et al.

MOLECULAR GENETICS AND METABOLISM (2019)

Article Endocrinology & Metabolism

Cholesterol Metabolism Is Enhanced in the Liver and Brain of Children With Citrin Deficiency

Satoshi Hirayama et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Article Genetics & Heredity

Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong

S. C. Chong et al.

MOLECULAR GENETICS AND METABOLISM REPORTS (2018)

Article Medical Laboratory Technology

Bile acid profiles in neonatal intrahepatic cholestasis caused by citrin deficiency

Ching-Hsuan Yang et al.

CLINICA CHIMICA ACTA (2017)

Article Endocrinology & Metabolism

Expanded newborn screening in New South Wales: missed cases

Jane Estrella et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2014)

Article Endocrinology & Metabolism

High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry

Sheng-Hung Lee et al.

MOLECULAR GENETICS AND METABOLISM (2014)

Article Gastroenterology & Hepatology

Screening of SLC25A13 mutation in the Thai population

Parith Wongkittichote et al.

WORLD JOURNAL OF GASTROENTEROLOGY (2013)

Article Gastroenterology & Hepatology

Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis

Rui Chen et al.

WORLD JOURNAL OF GASTROENTEROLOGY (2013)

Article Endocrinology & Metabolism

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13

Atsuo Kikuchi et al.

MOLECULAR GENETICS AND METABOLISM (2012)

Article Medical Laboratory Technology

High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan

Jing-Ting Lin et al.

CLINICA CHIMICA ACTA (2011)

Article Endocrinology & Metabolism

Citrin deficiency, a perplexing global disorder

David Dimmock et al.

MOLECULAR GENETICS AND METABOLISM (2009)

Article Gastroenterology & Hepatology

Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease

Michiharu Komatsu et al.

JOURNAL OF HEPATOLOGY (2008)

Article Endocrinology & Metabolism

Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)

T. Ohura et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2007)

Review Biochemistry & Molecular Biology

MALDI-TOF mass spectrometry - A versatile tool for high-performance DNA analysis

C Jurinke et al.

MOLECULAR BIOTECHNOLOGY (2004)

Article Endocrinology & Metabolism

Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency

T Saheki et al.

METABOLIC BRAIN DISEASE (2002)

Article Genetics & Heredity

Neonatal presentation of adult-onset type II citrullinemia

T Ohura et al.

HUMAN GENETICS (2001)