Results 61 to 70 of about 27,934,643 (129)
Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.Abstract This study describes the neurodevelopmental outcome of children with urea cycle disorders (UCD) and organic acidemias (OA) preliver transplant (LT), 1‐year, and 3‐years post‐LT. We performed a retrospective chart review of children with OA or UCD transplanted between January 2014 and December 2021.
Catherine Patterson +10 more
wiley +1 more source
Citrullinemia stimulation test in the evaluation of the intestinal function [PDF]
, 2013 Background: Citrullinemia is been reported as a quantitative parameter of the enterocyte mass and function. Aim: The objective of this research is to analyse the value of fasting and stimulated citrullinemias in the intestinal function evaluation ...
Veríssimo,Caria +5 more
core
Liver Transplantation in an Adult with Citrullinaemia Type 2
, 2011 Citrullinaemia is a urea cycle defect that results from a deficiency of the enzyme arginosuccinate synthetase. Type 1 disease is diagnosed in childhood, whereas Type 2 disease is adult onset.
Wan-Cheng Chow +6 more
core +1 more source
Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.Abstract Citrin belongs to the SLC25 transport protein family found mostly in inner mitochondrial membranes. The family prototype, the ADP–ATP carrier, delivers ATP made inside mitochondria to the cellular cytoplasm and returns ADP to the mitochondrion for resynthesis of ATP.
John E. Walker
wiley +1 more source
DataSheet1_Identification of Novel Mutations in Chinese Infants With Citrullinemia.PDF
, 2022 Citrullinemia is a rare autosomal recessive disorder characterized by elevated concentrations of citrulline in the blood resulting from malfunction of the urea cycle. It is categorized into two types, types I and II, which are caused by argininosuccinate
Xiwen He (1485397) +6 more
core +1 more source
DataSheet2_Identification of Novel Mutations in Chinese Infants With Citrullinemia.docx
, 2022 Citrullinemia is a rare autosomal recessive disorder characterized by elevated concentrations of citrulline in the blood resulting from malfunction of the urea cycle. It is categorized into two types, types I and II, which are caused by argininosuccinate
Xiwen He (1485397) +6 more
core +1 more source
Pathogenic rare variants in structurally stable sites.
, 2018 A. SNV at chr9:130480398 (Residue V263) associated with a rare disease, Citrullinemia type I. The SNV locus is on a stable α-helix structure near domain binding site. B.SNV at chr7:117590378 (Residue Y569) associated with a rare disease, Cystic fibrosis.
Vasundhara Dehiya (5801795) +2 more
core +1 more source
Citrullinemia: clinical experience with 23 cases
, 1998 A retrospective study was performed on the clinical outcome of 23 patients with citrullinemia diagnosed during the last 20 years in our clinic. The study group consisted of 13 patients with the neonatal form of the disease, four patients with the ...
Ayşegül Tokatlı +2 more
core +1 more source
Citrullinemia with an Atypical Presentation: Paroxysmal Hypoventilation Attacks.
, 2018 Citrullinemia type 1 (CTLN1) is a rare inherited urea cycle disorder, which resulted from the deficiency of argininosuccinate synthetase enzyme. We presented an infant who was hospitalized because of acute losses of tonus and cyanotic hypoventilation ...
Arhan, Ebru +10 more
core +1 more source
Anesthetic Management of a Patient With Citrullinemia Type I During Dental Treatment. [PDF]
Anesth Prog, 2021 Shibuya M +4 more
europepmc +1 more source