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5 articles related to "Urea Cycle Disorder"

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Articles

Case Report

Published on 03 Jan 2024

Hyperammonemia in a carbamoyl-phosphate synthetase 1 deficiency recipient after living-donor liver transplantation from a carrier donor: a case report

in Hepatobiliary Diseases

Toshihiko Kakiuchi
Tetsuya Nosho
Masafumi Oka
Katsuya Tashiro

Frontiers in Medicine

doi 10.3389/fmed.2023.1327854

2,910 views
2 citations

Original Research

Published on 21 Oct 2022

Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency

in Neurogenomics

Ruimiao Bai
ALing He
Jinzhen Guo
Zhankui Li
Xiping Yu
JunAn Zeng
Yang Mi
Lin Wang
Jingjing Zhang
Dong Yang

Frontiers in Neuroscience

doi 10.3389/fnins.2022.1025572

3,829 views
2 citations

Original Research

Published on 22 Sep 2016

An Algorithm Measuring Donor Cell-Free DNA in Plasma of Cellular and Solid Organ Transplant Recipients That Does Not Require Donor or Recipient Genotyping

in Cardiovascular Genetics and Systems Medicine

Paul M. K. Gordon
Aneal Khan
Umair Sajid
Nicholas Chang
Varun Suresh
Leo Dimnik
Ryan E. Lamont
Jillian S. Parboosingh
Steven R. Martin
Richard T. Pon

Frontiers in Cardiovascular Medicine

doi 10.3389/fcvm.2016.00033

8,752 views
30 citations

Original Research

Published on 14 Aug 2020

Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study

in Pediatric Neurology

Afrouz A. Anderson
Andrea Gropman
Cynthia Le Mons
Constantine A. Stratakis
Amir H. Gandjbakhche

Frontiers in Neurology

doi 10.3389/fneur.2020.00809

3,701 views
6 citations

Case Report

Published on 06 May 2022

Case Report: Juvenile Myelomonocytic Leukemia Underlying Ornithine Transcarbamylase Deficiency Safely Treated Using Hematopoietic Stem Cell Transplantation

in Pediatric Hematology and Hematological Malignancies

Hiroi Eguchi
Toshihiko Kakiuchi
Masanori Nishi
Kanako Kojima-Ishii
Kei Nishiyama
Yuhki Koga
Muneaki Matsuo

Frontiers in Pediatrics

doi 10.3389/fped.2022.898531

5,201 views
1 citation