-
1
A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children?
Published 2019-09-01Subjects: “…citrin deficiency…”
Get full text
Article -
2
Adult-onset type II citrullinemia: Current insights and therapy
Published 2018-12-01Subjects: “…citrin deficiency…”
Get full text
Article -
3
Obstacles to home-based dietary management for caregivers of children with citrin deficiency: a qualitative study
Published 2022-07-01Subjects: Get full text
Article -
4
p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency
Published 2017-06-01Subjects: “…citrin deficiency…”
Get full text
Article -
5
A rare case report: multiple intrahepatic masses in a pediatric patient with citrin deficiency
Published 2024-05-01Subjects: Get full text
Article -
6
Distinct roles for the domains of the mitochondrial aspartate/glutamate carrier citrin in organellar localization and substrate transport
Published 2024-12-01Subjects: Get full text
Article -
7
Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver
Published 2023-06-01Subjects: Get full text
Article -
8
Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report
Published 2021-05-01Subjects: “…Neonatal intrahepatic cholestasis caused by citrin deficiency…”
Get full text
Article -
9
Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency
Published 2023-03-01Subjects: “…citrin deficiency…”
Get full text
Article -
10
-
11
Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications
Published 2019-01-01Subjects: “…Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), infant…”
Get full text
Article -
12
Urinary reducing substances in neonatal intrahepatic cholestasis caused by citrin deficiency
Published 2014-07-01Subjects: “…citrin deficiency…”
Get full text
Article -
13
Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders
Published 2024-09-01Subjects: Get full text
Article -
14
Usefulness of serum BUN or BUN/creatinine ratio as markers for citrin deficiency in positive cases of newborn screening
Published 2022-03-01Subjects: “…Citrin deficiency…”
Get full text
Article -
15
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
Published 2013-02-01Subjects: Get full text
Article -
16
Hypoketotic hypoglycemia in citrin deficiency: a case report
Published 2020-09-01Subjects: “…Citrin deficiency…”
Get full text
Article -
17
Citrin deficiency mimicking mitochondrial depletion syndrome
Published 2020-11-01Subjects: “…Citrin deficiency…”
Get full text
Article -
18
Genetic Analysis of Peroxisomal Genes Required for Longevity in a Yeast Model of Citrin Deficiency
Published 2020-01-01Subjects: “…citrin deficiency…”
Get full text
Article -
19
Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis
Published 2021-05-01Subjects: “…citrin deficiency…”
Get full text
Article -
20
Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn
Published 2020-10-01Subjects: “…Neonatal intrahepatic cholestasis caused by citrin deficiency…”
Get full text
Article