cps1 deficiency Recently Published Documents

N ‐carbamoylglutamate‐responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects

JIMD Reports ◽

10.1002/jmd2.12034 ◽

2019 ◽

Vol 48 (1) ◽

pp. 36-44 ◽

Cited By ~ 2

Author(s):

Sufin Yap ◽

Nadine Gougeard ◽

Anthony R. Hart ◽

Belén Barcelona ◽

Vicente Rubio

Keyword(s):

Experimental Study ◽

Carbamoyl Phosphate ◽

Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder

Expert Opinion on Therapeutic Targets ◽

10.1080/14728222.2017.1294685 ◽

2017 ◽

Vol 21 (4) ◽

pp. 391-399 ◽

Cited By ~ 21

Author(s):

Carmen Diez-Fernandez ◽

Johannes Häberle

Keyword(s):

Urea Cycle ◽

Urea Cycle Disorder ◽

Carbamoyl Phosphate ◽

Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients

European Journal of Pediatrics ◽

10.1007/s00431-015-2644-z ◽

2015 ◽

Vol 175 (3) ◽

pp. 339-346 ◽

Cited By ~ 5

Author(s):

Ernie Zuraida Ali ◽

Mohd Khairul Nizam Mohd Khalid ◽

Zabedah Md Yunus ◽

Yusnita Yakob ◽

Chen Bee Chin ◽

...

Keyword(s):

Molecular Characterization ◽

Carbamoylphosphate Synthetase ◽

Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2015.01.002 ◽

2015 ◽

Vol 114 (3) ◽

pp. 438-444 ◽

Cited By ~ 9

Author(s):

Alexander Laemmle ◽

Dagmar Hahn ◽

Liyan Hu ◽

Véronique Rüfenacht ◽

Matthias Gautschi ◽

...

Keyword(s):

Stem Cell ◽

Hematopoietic Stem Cell Transplantation ◽

Stem Cell Transplantation ◽

High Dose Chemotherapy ◽

High Dose ◽

Carbamoyl Phosphate ◽

Hematopoietic Stem ◽

Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: Characterization of a founder mutation by use of recombinant CPS1 from insect cells expression

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2014.09.014 ◽

2014 ◽

Vol 113 (4) ◽

pp. 267-273 ◽

Cited By ~ 3

Author(s):

Liyan Hu ◽

Carmen Diez-Fernandez ◽

Véronique Rüfenacht ◽

Burcu Öztürk Hismi ◽

Özlem Ünal ◽

...

Keyword(s):

Insect Cells ◽

Founder Mutation ◽

Carbamoyl Phosphate ◽

Turkish Patients ◽

Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: Effects of CPS1 mutations that concentrate in a central domain of unknown function

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2014.04.003 ◽

2014 ◽

Vol 112 (2) ◽

pp. 123-132 ◽

Cited By ~ 20

Author(s):

Carmen Díez-Fernández ◽

Liyan Hu ◽

Javier Cervera ◽

Johannes Häberle ◽

Vicente Rubio

Keyword(s):

Unknown Function ◽

Carbamoyl Phosphate ◽

Central Domain ◽

Human Enzyme ◽

Domain Of Unknown Function ◽

Molecular Characterization of Carbamoyl-Phosphate Synthetase (CPS1) Deficiency Using Human Recombinant CPS1 as a Key Tool

Human Mutation ◽

10.1002/humu.22349 ◽

2013 ◽

Vol 34 (8) ◽

pp. 1149-1159 ◽

Cited By ~ 26

Author(s):

Carmen Diez-Fernandez ◽

Ana I. Martínez ◽

Satu Pekkala ◽

Belén Barcelona ◽

Isabel Pérez-Arellano ◽

...

Keyword(s):

Molecular Characterization ◽

Carbamoyl Phosphate ◽

Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis

Human Mutation ◽

10.1002/humu.21272 ◽

2010 ◽

Vol 31 (7) ◽

pp. 801-808 ◽

Cited By ~ 24

Author(s):

Satu Pekkala ◽

Ana I. Martínez ◽

Belén Barcelona ◽

Igor Yefimenko ◽

Ulrich Finckh ◽

...

Keyword(s):

Carbamoyl Phosphate ◽

Expression Studies ◽

Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency

Journal of Human Genetics ◽

10.1007/s10038-007-0122-9 ◽

2007 ◽

Vol 52 (4) ◽

pp. 349-354 ◽

Cited By ~ 27

Author(s):

Keiji Kurokawa ◽

Tohru Yorifuji ◽

Masahiko Kawai ◽

Toru Momoi ◽

Hironori Nagasaka ◽

...

Keyword(s):

Japanese Patients ◽

Carbamoylphosphate Synthetase ◽