Page last updated: 2024-08-17

galactose and Adult Fanconi Syndrome

galactose has been researched along with Adult Fanconi Syndrome in 15 studies

Research

Studies (15)

TimeframeStudies, this research(%)All Research%
pre-19908 (53.33)18.7374
1990's3 (20.00)18.2507
2000's3 (20.00)29.6817
2010's1 (6.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Grünert, SC; Pohl, M; Santer, R; Sass, JO; Schwab, KO1
Furlan, F; Menni, F; Parini, R; Santer, R; Santus, F; Sersale, G; Vismara, E1
Altinöz, S; Ecevit, C; Kasahara, M; Maeda, M; Oztürk, AA; Soylu, OB; Temizkan, AK1
Aperia, A; Bergqvist, G; Linné, T; Zetterström, R1
Brivet, M; Corriat, A; Lemonnier, A; Moatti, N; Odievre, M1
Iwańczak, F; Jagodzińska, M; Klinowska, W1
Chesney, RW; Colle, E; Goldman, H; Kaplan, BS; McInnes, RR; Scriver, CR; Teitel, D1
Chesney, RW; Colle, E; Drummond, KN; Dupont, CH; Kaplan, BS; McInnes, RR; Scriver, CR1
Baker, L; Berry, GT; Kaplan, FS; Witzleben, CL1
Altmüller, J; Heimann, G; Kentrup, H; Pfäffle, R1
Kim, GH; Seo, EJ; Shin, YL; Yoo, HW1
Bianchi, GP; Rossi, LN1
Bartolozzi, G; Ferrando, M; Lavia, N; Ruffa, G; Sbolgi, P1
Barash, V; Branski, D; Elpeleg, ON; Hurvitz, H; Kerem, E; Mor, C; Reifen, RM; Ruitenbeek, W1
Miłoszewska, E; Pronicka, E; Rowińska, E1

Other Studies

15 other study(ies) available for galactose and Adult Fanconi Syndrome

ArticleYear
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.
    Molecular genetics and metabolism, 2012, Volume: 105, Issue:3

    Topics: Child; Child, Preschool; Dietary Carbohydrates; Failure to Thrive; Fanconi Syndrome; Female; Galactose; Glucose; Glucose Transporter Type 2; Glycosuria; Humans; Male; Mutation; Phenotype

2012
Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome.
    Journal of inherited metabolic disease, 2006, Volume: 29, Issue:5

    Topics: Cataract; Fanconi Syndrome; Galactose; Glucose; Humans

2006
Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1.
    European journal of pediatrics, 2008, Volume: 167, Issue:12

    Topics: Fanconi Syndrome; Female; Galactose; Glucose; Glucose Metabolism Disorders; Humans; Infant; Malabsorption Syndromes; Mutation, Missense; Nephrocalcinosis; Sodium-Glucose Transporter 1

2008
Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity. A report on two siblings.
    Acta paediatrica Scandinavica, 1981, Volume: 70, Issue:4

    Topics: Carbohydrate Metabolism, Inborn Errors; Fanconi Syndrome; Female; Galactose; Humans; Infant; Kidney; Malabsorption Syndromes; Male; Phosphotransferases; Renal Aminoacidurias; Transferases

1981
Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome.
    Pediatric research, 1983, Volume: 17, Issue:2

    Topics: Child, Preschool; Erythrocytes; Fanconi Syndrome; Female; Galactose; Glucagon; Glucose; Glycogen Storage Disease; Glycolysis; Humans; In Vitro Techniques; Kidney; Liver; Liver Function Tests; Oxidation-Reduction

1983
[Coexistence of liver glycogenosis, Fanconi's syndrome and abnormal galactose metabolism in a 3-year-old child].
    Polski tygodnik lekarski (Warsaw, Poland : 1960), 1980, Dec-29, Volume: 35, Issue:52

    Topics: Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Fanconi Syndrome; Galactose; Glycogen Storage Disease; Humans; Liver Diseases; Liver Glycogen; Male

1980
Metabolic abnormalities in the idiopathic Fanconi syndrome: studies of carbohydrate metabolism in two patients.
    Pediatrics, 1981, Volume: 67, Issue:1

    Topics: Adolescent; Adult; Blood Glucose; Carbohydrate Metabolism; Child; Child, Preschool; Diabetes Complications; Ethanol; Fanconi Syndrome; Fructose; Galactose; Glucagon; Humans; Insulin; Male; Tolbutamide

1981
Abnormalities of carbohydrate metabolism in idiopathic Fanconi syndrome.
    Pediatric research, 1980, Volume: 14, Issue:3

    Topics: Carbohydrate Metabolism; Child; Ethanol; Fanconi Syndrome; Female; Fructose; Galactose; Glucagon; Glucose; Humans; Lactates; Pyruvates

1980
Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome.
    Pediatric nephrology (Berlin, Germany), 1995, Volume: 9, Issue:3

    Topics: Albuminuria; Biopsy; Child; Fanconi Syndrome; Galactose; Glucose; Humans; Kidney Diseases; Kidney Glomerulus; Male

1995
Neonatal diabetes mellitus with hypergalactosemia.
    European journal of endocrinology, 1999, Volume: 141, Issue:4

    Topics: Diabetes Mellitus; Diagnosis, Differential; Fanconi Syndrome; Galactose; Glucose Transporter Type 2; Humans; Infant, Newborn; Infant, Small for Gestational Age; Male; Monosaccharide Transport Proteins

1999
Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia.
    European journal of pediatrics, 2002, Volume: 161, Issue:6

    Topics: Diabetes Mellitus; Fanconi Syndrome; Galactose; Gene Expression Regulation; Glucose Transporter Type 2; Glycogen Storage Disease; Humans; Infant; Liver; Monosaccharide Transport Proteins; Mutation

2002
[A case of glycogenosis of type VI with associated de Toni-Debré-Fanconi syndromei1].
    Minerva pediatrica, 1975, Jun-23, Volume: 27, Issue:22

    Topics: Biopsy; Fanconi Syndrome; Galactose; Glucagon; Glucose Tolerance Test; Glycogen Storage Disease; Glycogen Storage Disease Type VI; Humans; Infant; Liver; Liver Function Tests; Male

1975
[The Fanconi-Bickel syndrome: one more case].
    Minerva pediatrica, 1992, Volume: 44, Issue:6

    Topics: Child, Preschool; Cystinosis; Fanconi Syndrome; Galactose; Glycogen Storage Disease; Humans; Liver Glycogen; Male

1992
Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy.
    European journal of pediatrics, 1989, Volume: 149, Issue:1

    Topics: Child, Preschool; Fanconi Syndrome; Galactose; Glycogen Storage Disease; Humans; Male; Mitochondria, Heart

1989
Tubular function of kidney after galactose loading in two patients with glycogen storage disease type XL.
    Journal of inherited metabolic disease, 1987, Volume: 10, Issue:3

    Topics: Adolescent; Adult; Bicarbonates; Fanconi Syndrome; Galactose; Galactosemias; Glycogen Storage Disease; Humans; Hyperlipidemias; Kidney Tubules; Male; Phosphates; Uric Acid

1987