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

The Journal of Pediatrics
Takeshi TomomasaA Morikawa

Abstract

We describe 2 patients with adult-onset type II citrullinemia who developed transient hypoproteinemia and jaundice in early infancy. Liver histology showed a marked fatty change and fibrosis. After the patients had lived without symptoms to the ages of 5 and 16 years, respectively, the diagnosis was made by genetic analysis.

Citations

Oct 17, 2012·BMC Gastroenterology·Suporn TreepongkarunaDuangrurdee Wattanasirichaigoon
Jan 20, 2011·Journal of Lipid Research·Amanda J HooperJohn R Burnett
Sep 17, 2002·Biological & Pharmaceutical Bulletin·Shigeru HondaRyuya Horiuchi
May 12, 2010·World Journal of Gastroenterology : WJG·Hai-Yan FuJian-She Wang
Aug 1, 2013·World Journal of Gastroenterology : WJG·Rui ChenJian-She Wang
Oct 8, 2014·Anesthesiology and Pain Medicine·Mohammad GharavifardReza Eslami
Nov 10, 2006·Molecular Genetics and Metabolism·Daisuke TokuharaYoshiyuki Okano
Jul 1, 2003·Expert Review of Neurotherapeutics·Shu-Ichi IkedaYasuhiko Hashikura
Nov 10, 2005·Journal of Hepatology·Hitoshi TakagiTakeyori Saheki
Sep 14, 2017·Journal of Inherited Metabolic Disease·Adrien BigotFrançois Maillot
Dec 17, 2010·Journal of Inherited Metabolic Disease·Hui Bein ChewKeiko Kobayashi
Jul 31, 2008·Journal of Pediatric Gastroenterology and Nutrition·Hung-Wen ChenMei-Hwei Chang
Dec 29, 2007·Journal of Korean Medical Science·Jae Sung KoJeong Kee Seo
Jan 15, 2010·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Akihiko KimuraTakeyori Saheki
May 19, 2010·Journal of Pediatric Gastroenterology and Nutrition·Pietro Vajro, Claudio Veropalumbo
Jan 24, 2007·Physiological Reviews·Jorgina SatrústeguiAraceli Del Arco
Feb 11, 2011·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·S Harvey Mudd
Jun 27, 2007·The Journal of Biological Chemistry·Takeyori SahekiTsuyoshi Kobayashi
Jul 21, 2015·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Ayano InuiTomoo Fujisawa
Dec 14, 2004·European Journal of Pediatrics·Momoko HachisuSachiko Kitanaka
Jun 26, 2015·World Journal of Gastroenterology : WJG·Mei-Hong ZhangJian-She Wang
Jul 20, 2002·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Yosuke ShigematsuSeiji Yamaguchi
May 16, 2021·Journal of Inherited Metabolic Disease·Melissa H BroeksNanda M Verhoeven-Duif
Nov 27, 2002·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Tomiko Kuhara
Feb 7, 2006·Journal of Hepatology·Mitsuaki MoriyamaTakeyori Saheki
Mar 18, 2010·Molecular Genetics and Metabolism·Takeyori SahekiKeiko Kobayashi

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.