Compounds > galactose
Page last updated: 2024-08-17

galactose and Citrullinemia

galactose has been researched along with Citrullinemia in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's4 (80.00)29.6817
2010's1 (20.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Avdjieva-Tzavella, DM; Ivanova, MB; Kathom, HM; Lazarova, EA; Panteleeva, EI; Tincheva, RS; Tincheva, SS; Todorov, TP; Todorova, AP; Yaneva, PG1
Abukawa, D; Aikawa, J; Iinuma, K; Kobayashi, K; Ohura, T; Saheki, T; Sakamoto, O; Tazawa, Y1
Abukawa, D; Ban, K; Fujimoto, A; Hata, I; Igarashi, N; Inui, K; Kaneko, H; Kobayashi, K; Matsumori, M; Miyakawa, T; Nishimura, Y; Ohura, T; Okano, Y; Ozaki, H; Saheki, T; Sakai, N; Shigematsu, Y; Shimizu, T; Tagami, Y; Takei, H; Tamamori, A; Tokuhara, D; Yamano, T; Yorifuji, T1
Abukawa, D; Hosoda, Y; Iinuma, K; Iizuka, T; Kaji, S; Kanzaki, S; Kobayashi, K; Lu, YB; Maisawa, S; Matsui, A; Murakami, J; Nagata, I; Ohura, T; Okamoto, M; Saheki, T; Sakamoto, O; Sumazaki, R; Tabata, A; Takada, G; Tazawa, Y1
Ito, M; Kitamura, S; Kobayashi, K; Kuroda, Y; Matsuura, S; Naito, E; Nishimura, Y; Ogawa, Y; Saheki, T; Saijo, T; Sakura, N1

Other Studies

5 other study(ies) available for galactose and Citrullinemia

ArticleYear
First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.
    Genetic counseling (Geneva, Switzerland), 2014, Volume: 25, Issue:3

    Topics: Arginine; Bulgaria; Calcium-Binding Proteins; Citrulline; Citrullinemia; DNA Mutational Analysis; Female; Follow-Up Studies; Galactose; Genetic Carrier Screening; Humans; Infant, Newborn; Male; Methionine; Mitochondrial Membrane Transport Proteins; Mutation, Missense; Organic Anion Transporters; Phenotype; Pregnancy; White People

2014
A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency.
    European journal of pediatrics, 2003, Volume: 162, Issue:5

    Topics: Cholestasis, Intrahepatic; Citrullinemia; Diagnosis, Differential; DNA Mutational Analysis; Galactose; Humans; Infant, Newborn; Mass Screening; Methionine; Neonatal Screening; Phenylalanine; Retrospective Studies

2003
Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency.
    Pediatric research, 2004, Volume: 56, Issue:4

    Topics: Amino Acids; Bile Acids and Salts; Cholestasis, Intrahepatic; Citrullinemia; Feasibility Studies; Female; Galactose; Humans; Infant, Newborn; Male; Membrane Transport Proteins; Mitochondrial Membrane Transport Proteins; Mitochondrial Proteins; Neonatal Screening

2004
Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients.
    Molecular genetics and metabolism, 2004, Volume: 83, Issue:3

    Topics: Amino Acids; Anemia, Hemolytic; Bile Acids and Salts; Biliary Atresia; Blood Coagulation Factors; Calcium-Binding Proteins; Cholestasis, Intrahepatic; Citrullinemia; DNA Mutational Analysis; DNA Primers; Female; Food, Formulated; Galactose; Hepatitis; Humans; Hypoglycemia; Hypoproteinemia; Infant; Infant, Newborn; Liver; Male; Membrane Transport Proteins; Mitochondrial Membrane Transport Proteins; Mitochondrial Proteins; Organic Anion Transporters; Tyrosinemias; Vitamins

2004
Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening.
    Journal of inherited metabolic disease, 2002, Volume: 25, Issue:1

    Topics: Citrullinemia; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Mass Screening; Membrane Transport Proteins; Mitochondrial Membrane Transport Proteins; Mitochondrial Proteins

2002