Novel Compound Heterozygote Mutations of theSLC25A13Gene in an Infant with Neonatal-onset Type II Citrullinemia Detected by Newborn Mass Screening

2011 ◽  
Vol 18 (2) ◽  
pp. 370 ◽  
Author(s):  
Ho-Seop Lim ◽  
Ho Kim ◽  
Sung Shin Kim ◽  
Gu-Hwan Kim ◽  
Han-Wook Yoo ◽  
...  
Keyword(s):  
Mass Screening ◽  
Compound Heterozygote ◽  
Type Ii ◽  
Onset Type ◽  
Neonatal Onset ◽  
Newborn Mass Screening

Development of tandem mass spectrometry-based creatinine measurement using dried blood spot for newborn mass screening

2017 ◽  
Vol 82 (2) ◽  
pp. 237-243 ◽  
Author(s):  
Masaru Nakano ◽  
◽  
Osamu Uemura ◽  
Masataka Honda ◽  
Tetsuya Ito ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Mass Screening ◽  
Dried Blood Spot ◽  
Tandem Mass ◽  
Creatinine Measurement ◽  
Newborn Mass Screening ◽  
Blood Spot

scholarly journals The Lack of Hepatocyte Steatosis in Adult-onset Type II Citrullinemia Patients as Assessed by 7-year Interval Paired Biopsies

2019 ◽  
Vol 58 (13) ◽  
pp. 1891-1895
Author(s):  
Hiroyuki Suzuki ◽  
Yusuke Kawamura ◽  
Keiichi Kinowaki ◽  
Norio Akuta ◽  
Kayoko Kasuya ◽  
...  
Keyword(s):  
Type Ii ◽  
Adult Onset ◽  
Onset Type ◽  
Hepatocyte Steatosis

scholarly journals False positive cases of elevated tetradecenoyl carnitine in newborn mass screening showed significant loss of body weight

2020 ◽  
Vol 24 ◽  
pp. 100634
Author(s):  
Ryosuke Bo ◽  
Hiroyuki Awano ◽  
Kosuke Nishida ◽  
Kazumichi Fujioka ◽  
Atsushi Nishiyama ◽  
...  
Keyword(s):  
Body Weight ◽  
Mass Screening ◽  
False Positive ◽  
Significant Loss ◽  
Newborn Mass Screening

scholarly journals Adult-onset type II citrullinemia: Current insights and therapy

2018 ◽  
Vol Volume 11 ◽  
pp. 163-170 ◽  
Author(s):  
Kiyoshi Hayasaka ◽  
Chikahiko Numakura
Keyword(s):  
Type Ii ◽  
Adult Onset ◽  
Onset Type

Delayed or late-onset type II glycogenosis with globular inclusions

2005 ◽  
Vol 110 (2) ◽  
pp. 151-157 ◽  
Author(s):  
Mehar C. Sharma ◽  
Christoph Schultze ◽  
Arpad von Moers ◽  
Gisela Stoltenburg-Didinger ◽  
Yoon S. Shin ◽  
...  
Keyword(s):  
Late Onset ◽  
Type Ii ◽  
Onset Type ◽  
Type Ii Glycogenosis

scholarly journals A case of adult-onset type II citrullinemia with comorbid epilepsy even after liver transplantation

Epilepsia ◽  
2010 ◽  
Vol 51 (12) ◽  
pp. 2484-2487 ◽  
Author(s):  
Yosuke Eriguchi ◽  
Hidenori Yamasue ◽  
Nagafumi Doi ◽  
Takuji Nishida ◽  
Osamu Abe ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Type Ii ◽  
Adult Onset ◽  
Onset Type

Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency

Lung ◽  
2013 ◽  
Vol 191 (5) ◽  
pp. 537-544 ◽  
Author(s):  
Andrea Vianello ◽  
Claudio Semplicini ◽  
Luciana Paladini ◽  
Alessandra Concas ◽  
Sabrina Ravaglia ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Late Onset ◽  
Type Ii ◽  
Onset Type ◽  
Enzyme Replacement ◽  
Respiratory Outcomes ◽  
Type Ii Glycogenosis
Sign in / Sign up

Export Citation Format

Share Document