Page last updated: 2024-08-17

galactose and Metabolism, Inborn Errors

galactose has been researched along with Metabolism, Inborn Errors in 70 studies

Research

Studies (70)

Timeframe	Studies, this research(%)	All Research%
pre-1990	59 (84.29)	18.7374
1990's	2 (2.86)	18.2507
2000's	1 (1.43)	29.6817
2010's	5 (7.14)	24.3611
2020's	3 (4.29)	2.80

Authors

Authors	Studies
Prasad, BS; Yachha, SK	1
Chen, L; Pan, J; Wang, D; Yuan, T; Zhang, F	1
Dzgoeva, F; Karton, E; Ostrovskaya, I; Shestakova, M; Taigibov, M	1
Qi, X; Tester, RF	1
Biberoglu, G; Ezgu, F; Inci, A; Okur, I; Olgac, A; Tumer, L	1
Berry, GT; Brucker, WJ; Demirbas, D	1
Achten, J; Berry, GT; Bierau, J; Coelho, AI; Demirbas, D; Derks, B; Haskovic, M; Huang, X; Mackinnon, S; Nyakayiru, J; Peake, RWA; Qi, W; Rubio-Gozalbo, ME; Trommelen, J; van der Ploeg, L; van Loon, LJC; Yue, WW; Zha, L	1
Bernstein, LE; Berry, GT; Bosch, AM; Burlina, AB; Eyskens, F; Gautschi, M; Grünewald, S; Gubbels, CS; Knerr, I; Labrune, P; MacDonald, A; Murphy, E; Õunap, K; Portnoi, PA; Potter, NL; Rubio-Gozalbo, ME; Spencer, JB; Timmers, I; Treacy, EP; Van Calcar, SC; van der Lee, JH; Waisbren, SE; Welling, L	1
AKABANE, J; AKABANE, M; ARAKAWA, T	1
FERNANDES, J; VAN DE KAMER, JH	1
Dwi Bahagia, A; Hamakawa, M; Kobayashi, K; Kubota, M; Naito, K; Nishimura, Y; Ono, H; Saheki, T; Sakamoto, A; Sakura, N; Tajima, G; Yoshii, C	1
Wilson, WA	1
Freese, D	1
Cramer, DW; Harlow, BL; Xu, H	1
Enzenauer, J; Matz, D; Menne, F	1
Benson, PF; Brown, SP; Cree, J; Fensom, AH; Grant, AR	1
Kovács, BJ; Nagy, I; Németh, L	1
Rüdiger, HW; Wöhler, W	1
Schreier, K	1
Akasaki, M; Aula, P; Funakoshi, I; Sugahara, K; Yamashina, I	1
Lundblad, A; Masson, PK; Nordén, NE	1
Dawson, G; Tsay, GC	1
Fric, P	1
Aula, P; Funakoshi, I; Funakoshi, S; Sugahara, K; Yamashina, I	1
Winder, AF	1
Buncic, JR; Petrova-Benedict, R; Robinson, BH; Wallace, DC	1
Beutler, E	1
Bickel, H; Mathias, D	1
Levy, HL; MacCready, RA; Simmons, JR	1
Benson, PF; Blunt, S; Brown, SP	1
Smetana, HF	1
Brandt, NJ	1
Kaloud, H; Sitzmann, FC	1
Gitzelmann, R; Segal, S; Wells, HJ	1
Kaloud, H; Mayer, R; Paltauf, F; Sitzmann, FC	2
Baur, EW; Moutlsky, AG; Yoshida, A	1
Dykes, JR; Spencer-Peet, J	1
Benson, PF; Brown, S; Croll, P; Giannelli, F; Zacchello, F	1
Glew, RH; Iammarino, RM; Kuhlenschmidt, MS; Peters, SP; Turco, SJ; Yunis, EJ	1
Ament, ME	1
Poley, JR	1
Bergren, WR; Donnell, GN; Frasier, SD; Oberman, AE; Wilson, WA	1
Gitzelmann, R	1
Dulaney, JT; Moser, HW; Sugita, M	1
Gitzelmann, R; Steinmann, B	1
Korneva, TI; Kurgasheva, EK; Lebedev, VP; Tabolin, VA	1
Dayan, AD; Ramsey, RB	1
Kitagawa, T	1
Kiss, J	1
Linneweh, F	1
Gray, GM	1
McMichael, HB	1
Mandel, P; Neskovic, N; Nussbaum, JL	1
Thalhammer, O	1
Benson, PF; Croll, P; Giannelli, F; Mann, TP; Zacchello, F	1
Berger, H	1
Csordás, J; Méhes, K; Ritecz, E; Rubecz, I	1
Buss, EG; Clagett, CO; Farrell, HM; Mallette, MF	1
Deifts, C; Marchal, C; Neimann, N; Pierson, M; Vidailhet, M; Vigneron, C	1
Linneweh, F; Schaumlöffel, E; Vetrella, M	1
Manis, J	1
Swoboda, W	1
Bensch, KG; Gordon, GB; Miller, LR	1
Gerbie, AB; Nadler, HL	1
GAIS, E	1
Crane, RK	1
Cantor, JO; Greenwald, RA; Prieur, DJ; Young, DM	1
Georgescu, M; Ionescu, V; Radu, A; Radu, H	1
Calne, DB; King, RH; Thomas, PK	1

Reviews

12 review(s) available for galactose and Metabolism, Inborn Errors

Article	Year
Fructose, galactose and glucose - In health and disease. Clinical nutrition ESPEN, 2019, Volume: 33 Topics: Animals; Diet; Dietary Carbohydrates; Disaccharides; Disease; Fructose; Galactose; Glucose; Health; Humans; Metabolism, Inborn Errors; Monosaccharides; Oligosaccharides; Polysaccharides; Starch	2019
Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine. Pediatric clinics of North America, 2018, Volume: 65, Issue:2 Topics: Fructose; Galactose; Humans; Infant, Newborn; Liver; Liver Diseases; Metabolism, Inborn Errors; Tyrosine	2018
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. Journal of inherited metabolic disease, 2017, Volume: 40, Issue:2 Topics: Evidence-Based Medicine; Follow-Up Studies; Galactose; Galactosemias; Humans; Metabolism, Inborn Errors	2017
Intracellular cholestatic syndromes of infancy. Seminars in liver disease, 1982, Volume: 2, Issue:4 Topics: Bacterial Infections; Bile Acids and Salts; Biopsy, Needle; Cholestasis, Intrahepatic; Fructose; Galactose; Glycogen Storage Disease; Hepatitis; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Liver; Metabolism, Inborn Errors; Prognosis; Syndrome; Tyrosine	1982
Cirrhosis of the liver: principles of classification, histogenesis, and pathogenesis. Pathology annual, 1972, Volume: 7 Topics: Adult; Aged; Animals; Female; Galactose; Haplorhini; Hemochromatosis; Humans; Inclusion Bodies; Infant; Infant, Newborn; Liver Cirrhosis; Liver Cirrhosis, Biliary; Liver Neoplasms; Macaca; Male; Metabolism, Inborn Errors; Nutrition Disorders; Portal System	1972
Malabsorption syndromes in infancy and childhood. I. The Journal of pediatrics, 1972, Volume: 81, Issue:4 Topics: Caseins; Child, Preschool; Chlorides; Diarrhea; Dietary Carbohydrates; Dietary Fats; Endopeptidases; Feces; Galactose; Glucose; Humans; Hydrogen-Ion Concentration; Hypersensitivity; Immunologic Deficiency Syndromes; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Diseases, Parasitic; Intestines; Lactose Intolerance; Malabsorption Syndromes; Metabolism, Inborn Errors; Sucrase	1972
Chronic diarrhea in infants and children. I. Southern medical journal, 1973, Volume: 66, Issue:9 Topics: Adolescent; Bile Acids and Salts; Child; Child, Preschool; Chronic Disease; Cystic Fibrosis; Diarrhea; Dietary Carbohydrates; Dietary Proteins; Fatty Acids; Food Hypersensitivity; Galactose; Gastrointestinal Motility; Glucose; Glutens; Glycoside Hydrolases; Humans; Infant; Intestinal Absorption; Intestines; Lipase; Malabsorption Syndromes; Metabolism, Inborn Errors; Pancreas	1973
[Congenital metabolic inborn errors, with the exception of amino acid metabolism]. Shinkei kenkyu no shimpo. Advances in neurological sciences, 1968, Volume: 12, Issue:1 Topics: Amino Acids; Carbohydrate Metabolism, Inborn Errors; Galactose; Humans; Hypercalcemia; Intellectual Disability; Kidney Function Tests; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Proline; Purine-Pyrimidine Metabolism, Inborn Errors; Renal Tubular Transport, Inborn Errors	1968
Glycosphingolipids (sugar-sphingosine conjugates). Advances in carbohydrate chemistry and biochemistry, 1969, Volume: 24 Topics: Amino Alcohols; Animals; Candida; Cerebrosides; Chemical Phenomena; Chemistry; Erythrocytes; Fatty Acids; Galactose; Gangliosides; Glucose; Glycolipids; Glycols; Humans; Metabolism, Inborn Errors; Neuraminic Acids; Oligosaccharides; Plants; Saccharomyces; Serine; Spleen; Stereoisomerism; Sulfuric Acids; Terminology as Topic	1969
Intestinal digestion and maldigestion of dietary carbohydrates. Annual review of medicine, 1971, Volume: 22 Topics: Biological Transport, Active; Deficiency Diseases; Dextranase; Dietary Carbohydrates; Digestion; Galactose; Glucose; Glycoside Hydrolases; Humans; Hydrolysis; Intestinal Absorption; Intestine, Small; Lactose Intolerance; Malabsorption Syndromes; Metabolism, Inborn Errors; Oligosaccharides; Sucrase	1971
Intestinal absorption of carbohydrates in man. The Proceedings of the Nutrition Society, 1971, Volume: 30, Issue:3 Topics: Amylases; Dietary Carbohydrates; Digestion; Fructose; Galactose; Glucose; Glycoside Hydrolases; Humans; Ileum; Intestinal Absorption; Intestinal Mucosa; Jejunum; Lactose; Lactose Intolerance; Metabolism, Inborn Errors; Pancreatic Juice; Starch; Sucrose	1971
Digestion and absorption: water-soluble organics. International review of physiology, 1977, Volume: 12 Topics: Age Factors; Amino Acids; Animals; Biological Transport; Biological Transport, Active; Cell Membrane; Digestion; Disaccharidases; Enteropeptidase; Hexoses; Humans; Intestinal Absorption; Intestinal Mucosa; Intestinal Secretions; Kinetics; Metabolism, Inborn Errors; Pancreatic Juice; Sodium	1977

Other Studies

58 other study(ies) available for galactose and Metabolism, Inborn Errors

Article	Year
Congenital Glucose-Galactose Malabsorption in a Child. Indian pediatrics, 2022, 10-15, Volume: 59, Issue:10 Topics: Carbohydrate Metabolism, Inborn Errors; Child; Galactose; Glucose; Humans; Malabsorption Syndromes; Metabolism, Inborn Errors	2022
Congenital Glucose-Galactose Malabsorption in a Neonate with Hyperbilirubinemia and Hypernatremia. Indian journal of pediatrics, 2023, Volume: 90, Issue:7 Topics: Carbohydrate Metabolism, Inborn Errors; Galactose; Glucose; Humans; Hyperbilirubinemia; Hypernatremia; Infant, Newborn; Malabsorption Syndromes; Metabolism, Inborn Errors	2023
INVESTIGATION OF THE LEVEL OF MONOSACCHARIDES IN SALIVA OF PATIENTS WITH IMPAIRED CARBOHYDRATE METABOLISM. Georgian medical news, 2023, Issue:338 Topics: Blood Glucose; Carbohydrate Metabolism; Diabetes Mellitus, Type 2; Fructose; Galactose; Glucose; Humans; Metabolism, Inborn Errors; Monosaccharides; Obesity; Saliva	2023
Vitamin D Levels and Bone Mineral Density in Inborn Errors of Metabolism Requiring Specialised Diets. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2019, Volume: 29, Issue:12 Topics: Biomarkers; Bone Density; Child, Preschool; Diet; Female; Follow-Up Studies; Galactose; Humans; Male; Metabolism, Inborn Errors; Retrospective Studies; Vitamin D	2019
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. Orphanet journal of rare diseases, 2018, 11-26, Volume: 13, Issue:1 Topics: Arginine; Aspartic Acid; Cells, Cultured; Fibroblasts; Galactose; Galactosemias; Humans; Metabolism, Inborn Errors; Mutation; Retrospective Studies	2018
LACTOSE INTOLERANCE WITH NORMAL ACTIVITY OF LACTASE. The Tohoku journal of experimental medicine, 1964, Sep-25, Volume: 83 Topics: Blood Proteins; Body Fluids; Clinical Enzyme Tests; Galactose; Galactosidases; Glucose; Humans; Infant; Lactase; Lactose; Lactose Intolerance; Liver; Maltose; Metabolism, Inborn Errors; Urine	1964
STUDIES ON THE UTILIZATION OF HEXOSES IN LIVER GLYCOGEN DISEASE. Pediatrics, 1965, Volume: 35 Topics: Adolescent; Blood; Blood Glucose; Carbohydrate Metabolism; Child; Deficiency Diseases; Fatty Acids; Fructose; Galactose; Glucose; Glucose-6-Phosphatase; Hexoses; Humans; Lactates; Lactose Intolerance; Liver; Liver Glycogen; Metabolism; Metabolism, Inborn Errors; Phosphotransferases	1965
Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: clinical significance of portal vein imaging. Journal of inherited metabolic disease, 2004, Volume: 27, Issue:1 Topics: Acute Disease; alpha-Fetoproteins; Bile Acids and Salts; Chronic Disease; Galactose; Galactosemias; Hemangioendothelioma; Heterozygote; Humans; Infant, Newborn; Liver Neoplasms; Mass Screening; Metabolism, Inborn Errors; Portal System; Portal Vein; Severity of Illness Index; UDPglucose 4-Epimerase; Ultrasonography, Doppler, Color; UTP-Hexose-1-Phosphate Uridylyltransferase	2004
Cataracts and galactose metabolism. Transactions of the American Ophthalmological Society, 1967, Volume: 65 Topics: Age Factors; Animals; Body Weight; Carbohydrate Metabolism; Cataract; Diet; Galactose; Galactosemias; Genes, Recessive; Humans; Metabolism, Inborn Errors; Rats; Retina; Time Factors; Transferases	1967
Family history as a predictor of early menopause. Fertility and sterility, 1995, Volume: 64, Issue:4 Topics: Adult; Case-Control Studies; Female; Forecasting; Galactose; Humans; Medical Records; Menopause, Premature; Metabolism, Inborn Errors; Middle Aged; Nuclear Family; Sex	1995
[Diagnosis and therapy of 6 hereditary, to mental-deficiency-leading, metabolic disorders. 2]. Medizinische Klinik, 1976, Apr-30, Volume: 71, Issue:18 Topics: Acute Disease; Diagnosis, Differential; Galactose; Galactosemias; Germany, West; Histidine; Homocystine; Homocystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Methionine; Phosphotransferases	1976
Phenotypic expression of galactokinase deficiency in heterozygous and homozygous subjects: in vivo and in vitro studies. Birth defects original article series, 1976, Volume: 12, Issue:3 Topics: Adolescent; Cells, Cultured; Child; Culture Media; Erythrocytes; Female; Fibroblasts; Galactose; Heterozygote; Homozygote; Humans; In Vitro Techniques; Male; Metabolism, Inborn Errors; Phenotype; Phosphotransferases	1976
[Disorder of galactose metabolism and damage of the small intestine. Possible causal relationship based on the analysis of 40 pediatric cases]. Orvosi hetilap, 1978, Jul-02, Volume: 119, Issue:27 Topics: Child, Preschool; Diagnosis, Differential; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Malabsorption Syndromes; Metabolism, Inborn Errors	1978
[Prenatal diagnosis of metabolic abnormalities in cell cultures (author's transl)]. MMW, Munchener medizinische Wochenschrift, 1975, Oct-24, Volume: 117, Issue:43 Topics: Amniotic Fluid; Autoradiography; Carbon Dioxide; Carbon Radioisotopes; Cell Line; Cells, Cultured; Culture Media; Cytodiagnosis; Female; Fibroblasts; Galactose; Galactosemias; Humans; Lesch-Nyhan Syndrome; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Mucopolysaccharidoses; Pregnancy; Prenatal Diagnosis; Sulfur	1975
[Intestinal enzymopathies of children (author's transl)]. MMW, Munchener medizinische Wochenschrift, 1976, Dec-24, Volume: 118, Issue:52-53 Topics: Abetalipoproteinemia; Adolescent; Adult; Blood Protein Disorders; Child; Child, Preschool; Cholesterol; Cystinuria; Disaccharidases; Enteritis; Galactose; Glucose; Glycoside Hydrolases; Hartnup Disease; Humans; Infant; Infant, Newborn; Intestinal Absorption; Intestinal Mucosa; Lactose Intolerance; Metabolism, Inborn Errors; Sucrose	1976
Structural studies of glycoasparagines from urine of a patient with aspartylglycosylaminuria (AGU). FEBS letters, 1977, Jun-15, Volume: 78, Issue:2 Topics: Acetylglucosamine; Aminoglycosides; Asparagine; Galactose; Humans; Metabolism, Inborn Errors; Sialic Acids	1977
Structural determination of three glycoasparagines isolated from the urine of a patient with aspartylglycosaminuria. European journal of biochemistry, 1976, Aug-01, Volume: 67, Issue:1 Topics: Acetylglucosamine; Adult; Asparagine; Female; Galactose; Humans; Mannose; Metabolism, Inborn Errors; Molecular Conformation; Oligosaccharides; Optical Rotation	1976
Glycopeptide storage in fibroblasts from patients with inborn errors of glycoprotein and glycosphingolipid catabolism. Biochemical and biophysical research communications, 1975, Apr-07, Volume: 63, Issue:3 Topics: alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Fibroblasts; Fucose; Galactose; Galactosidases; Glucosamine; Glycopeptides; Hexosaminidases; Humans; Lipid Metabolism, Inborn Errors; Mannose; Mannosidases; Metabolism, Inborn Errors; Sialic Acids; Skin	1975
[Metabolic deviations in small intestine disease (author's transl)]. Casopis lekaru ceskych, 1975, Mar-14, Volume: 114, Issue:10-11 Topics: Disaccharidases; Galactose; Humans; Intestine, Small; Metabolism, Inborn Errors; Vitamin B 12 Deficiency	1975
Characterization of two glycoasparagines isolated from the urine of patients with aspartylglycosylaminuria (AGU). Journal of biochemistry, 1975, Volume: 78, Issue:4 Topics: Amidohydrolases; Asparagine; Aspartylglucosaminuria; Galactose; Galactosidases; Glucosamine; Metabolism, Inborn Errors; Neuraminidase; Sialic Acids	1975
Cataracts in early life: biochemistry. Proceedings of the Royal Society of Medicine, 1976, Volume: 69, Issue:4 Topics: Cataract; Diabetes Complications; Diabetes Mellitus; Galactose; Glucose; Hypocalcemia; Metabolism, Inborn Errors	1976
Selective killing of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts. Journal of inherited metabolic disease, 1992, Volume: 15, Issue:6 Topics: Cell Line; Cell Survival; Culture Media; Fibroblasts; Galactose; Humans; Metabolism, Inborn Errors; Oxidation-Reduction	1992
Blood cells as markers for metabolic disorders. Blut, 1985, Volume: 51, Issue:6 Topics: Blood Cells; Erythrocytes; Galactose; Humans; Leukocytes; Metabolic Diseases; Metabolism, Inborn Errors; Purines	1985
Inter-laboratory quality control in neonatal screening for inborn errors of metabolism. European journal of pediatrics, 1985, Volume: 144, Issue:2 Topics: Diagnostic Tests, Routine; False Negative Reactions; Galactose; Germany, West; Humans; Infant, Newborn; Leucine; Metabolism, Inborn Errors; Methionine; National Health Programs; Phenylalanine; Quality Control	1985
Stability of amino acids and galactose in the newborn screening filter paper blood specimen. The Journal of pediatrics, 1985, Volume: 107, Issue:5 Topics: Amino Acids; Blood Specimen Collection; Fetal Blood; Filtration; Galactose; Humans; Infant, Newborn; Leucine; Mass Screening; Metabolism, Inborn Errors; Paper; Phenylalanine; Time Factors	1985
Amniotic-cell galactokinase activity: stimulation by galactose. Lancet (London, England), 1973, Jan-13, Volume: 1, Issue:7794 Topics: Amniocentesis; Amniotic Fluid; Cataract; Cells, Cultured; Female; Fetal Diseases; Galactose; Humans; Metabolism, Inborn Errors; Phosphotransferases; Pregnancy; Prenatal Diagnosis; Stimulation, Chemical	1973
[Hereditary galactokinase deficiency]. Ugeskrift for laeger, 1973, Aug-06, Volume: 135, Issue:32 Topics: Diet Therapy; Galactose; Humans; Metabolism, Inborn Errors; Phosphotransferases	1973
[The galactokinase deficiency in two human populations: Styria (Austria) and Franconia (Bavaria). A comparative investigation on gen frequency (author's transl)]. Zeitschrift fur Kinderheilkunde, 1974, Feb-11, Volume: 116, Issue:3 Topics: Adult; Austria; Carbon Radioisotopes; Child; Consanguinity; Ethnicity; Galactose; Gene Frequency; Genetics, Population; Germany, West; Heterozygote; Homozygote; Humans; Metabolism, Inborn Errors; Molecular Biology; Phosphotransferases	1974
Galactose metabolism in a patient with hereditary galactokinase deficiency. European journal of clinical investigation, 1974, Volume: 4, Issue:2 Topics: Carbon Dioxide; Carbon Radioisotopes; Galactose; Glucokinase; Glycerolphosphate Dehydrogenase; Humans; Hydro-Lyases; Metabolism, Inborn Errors; Middle Aged; Phosphotransferases	1974
[The family of a patient with galactokinase-defect 2nd communication (author's transl)]. Klinische Padiatrie, 1974, Volume: 186, Issue:1 Topics: Adult; Age Factors; Alleles; Cataract; Child; Female; Galactose; Galactosemias; Hemoglobins; Heterozygote; Homozygote; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Pedigree; Phosphotransferases; Pregnancy; Twins	1974
A Philippino glucose-6-phosphate dehydrogenase variant (G6PD Union) with enzyme deficiency and altered substrate specificity. Blood, 1970, Volume: 35, Issue:4 Topics: Asian People; Coenzymes; Electrophoresis; Erythrocytes; Galactose; Gels; Glucosephosphate Dehydrogenase; Glucosephosphate Dehydrogenase Deficiency; Hexosephosphates; Humans; Hydrogen-Ion Concentration; Immune Sera; Male; Metabolism, Inborn Errors; NADP; Neutralization Tests; Pedigree; Starch; Terminology as Topic; Thalassemia	1970
Hepatic glycogen synthetase deficiency. Further studies on a family. Archives of disease in childhood, 1972, Volume: 47, Issue:254 Topics: Adolescent; Blood Glucose; Child; Child, Preschool; Diagnosis, Differential; Fasting; Female; Galactose; Glucagon; Glucose; Glucose Tolerance Test; Glucosyltransferases; Glycogen; Glycogen Storage Disease Type I; Hexosaminidases; Humans; Hydrocortisone; Hypoglycemia; Infant; Insulin; Liver; Male; Metabolism, Inborn Errors	1972
Induction of galactokinase in fibroblasts from heterozygous and homozygous subjects. Nature: New biology, 1972, Sep-20, Volume: 239, Issue:90 Topics: Adult; Cells, Cultured; Child; Cycloheximide; Enzyme Induction; Female; Fibroblasts; Galactose; Heterozygote; Homozygote; Humans; Male; Metabolism, Inborn Errors; Phosphotransferases	1972
Demonstration of sialyltransferase deficiency in the serum of a patient with alpha-1-antitrypsin deficiency and hepatic cirrhosis. Laboratory investigation; a journal of technical methods and pathology, 1974, Volume: 31, Issue:4 Topics: Acid Phosphatase; Alanine Transaminase; Alkaline Phosphatase; alpha 1-Antitrypsin Deficiency; Aspartate Aminotransferases; Blood Proteins; Carbon Radioisotopes; Ceruloplasmin; Child; Densitometry; Electrophoresis, Disc; Electrophoresis, Starch Gel; Female; Galactose; Galactosidases; Glucosidases; Glycoproteins; Humans; L-Lactate Dehydrogenase; Liver; Liver Cirrhosis; Metabolism, Inborn Errors; Microscopy, Electron; Sialic Acids; Transferases; Ultracentrifugation	1974
Galactokinase-deficiency cataracts in identical twins. American journal of ophthalmology, 1972, Volume: 74, Issue:5 Topics: Cataract; Diseases in Twins; Erythrocytes; Female; Galactose; Galactosemias; Humans; Infant; Metabolism, Inborn Errors; Phosphotransferases	1972
Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication. Helvetica paediatrica acta, 1972, Volume: 27, Issue:2 Topics: Carbohydrate Epimerases; Erythrocytes; Female; Galactose; Glucose; Humans; Infant, Newborn; Infant, Newborn, Diseases; Metabolism, Inborn Errors; Uridine Diphosphate Sugars	1972
Ceramidase deficiency in Farber's disease (lipogranulomatosis). Science (New York, N.Y.), 1972, Dec-08, Volume: 178, Issue:4065 Topics: Acid Phosphatase; Adult; Carbon Isotopes; Ceramides; Cerebellum; Cerebrosides; Child; Child, Preschool; Congenital Abnormalities; Female; Galactose; Galactosidases; Glucose; Glycoside Hydrolases; Heart Defects, Congenital; Hexosaminidases; Humans; Hydrolases; Infant; Infant, Newborn; Intellectual Disability; Kidney; Lipidoses; Liver Cirrhosis, Biliary; Male; Metabolism, Inborn Errors; Neuraminidase; Pigmentation Disorders; Respiratory Distress Syndrome, Newborn	1972
[Clinical and biochemical findings in a child with hereditary galactokinase defect]. Klinische Padiatrie, 1973, Volume: 185, Issue:1 Topics: Clinical Enzyme Tests; Electroencephalography; Female; Galactose; Hexosephosphates; Humans; Infant; Metabolism, Inborn Errors; Nucleotidyltransferases; Phosphotransferases; Uracil Nucleotides	1973
Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation. Helvetica paediatrica acta, 1973, Volume: 28, Issue:6 Topics: Adolescent; Adult; Aged; Carbohydrate Epimerases; Child; Child, Preschool; Erythrocytes; Female; Fibroblasts; Galactose; Genes, Recessive; Glucose; Heterozygote; Homozygote; Humans; Infant; Leukocytes; Liver; Male; Metabolism, Inborn Errors; Middle Aged; Pedigree; Skin; Uridine Diphosphate Sugars	1973
[Glucose and galactose intolerance in children]. Voprosy okhrany materinstva i detstva, 1973, Volume: 18, Issue:10 Topics: Child; Galactose; Glucose; Glucose Tolerance Test; Humans; Male; Metabolism, Inborn Errors; Pedigree	1973
An inborn error of vitamin B12 metabolism associated with cellular deficiency of coenzyme forms of the vitamin. Pathological and neurochemical findings in one case. Journal of the neurological sciences, 1974, Volume: 23, Issue:1 Topics: Anemia, Macrocytic; Atrophy; Autopsy; Blood Vessels; Brain; Brain Chemistry; Cerebrosides; Child; Cholesterol; Chromatography, Thin Layer; Demyelinating Diseases; Esters; Fatty Acids; Fatty Acids, Unsaturated; Female; Galactose; Gliosis; Globus Pallidus; Homocystinuria; Humans; Malonates; Metabolism, Inborn Errors; Phosphatidylcholines; Phospholipids; Sphingomyelins; Sulfoglycosphingolipids; Vitamin B 12	1974
[Isotope use in the study of hereditary metabolic diseases]. Monatsschrift fur Kinderheilkunde, 1970, Volume: 118, Issue:6 Topics: Animals; Autoradiography; Blood Glucose; Brain Chemistry; Carbon Isotopes; Chromatography, Paper; Deficiency Diseases; Feces; Galactose; Glucokinase; Glucose; Glycosuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leucine; Malabsorption Syndromes; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Radioisotope Dilution Technique; Radioisotopes; Rats; Tritium	1970
[The galactosyl-sphingosine transferase of quaking mutant mouse brain]. Comptes rendus hebdomadaires des seances de l'Academie des sciences. Serie D: Sciences naturelles, 1969, Volume: 269, Issue:12 Topics: Amino Alcohols; Animals; Brain; Carbon Isotopes; Galactose; Glycols; Male; Metabolism, Inborn Errors; Mice; Mutation; Myelin Sheath; Transferases	1969
[Demands on screening tests in inborn anomalies of metabolism]. Wiener klinische Wochenschrift, 1970, Oct-18, Volume: 82, Issue:42 Topics: Bacillus subtilis; Chromatography; Chromatography, Paper; Culture Media; Galactose; Histidine; Humans; Infant, Newborn; Leucine; Mass Screening; Metabolism, Inborn Errors; Methionine; Phenylalanine; Tyrosine	1970
Substrate induction of galactokinase in cultured fibroblasts from subjects heterozygous and homozygous for galactokinase deficiency. Archives of disease in childhood, 1972, Volume: 47, Issue:251 Topics: Enzyme Induction; Fibroblasts; Galactose; Heterozygote; Homozygote; Humans; Metabolism, Inborn Errors; Phosphotransferases	1972
[Congenital enzyme defects]. Wiener medizinische Wochenschrift (1946), 1971, Sep-18, Volume: 121, Issue:38 Topics: Amylases; Biotransformation; Carbohydrate Metabolism, Inborn Errors; Fructose; Galactose; Glucose; Glucosephosphate Dehydrogenase Deficiency; Hemoglobinopathies; Heterozygote; Humans; Malabsorption Syndromes; Metabolism, Inborn Errors; Mixed Function Oxygenases; Pyruvate Kinase	1971
[An unusual form of galactose metabolism disorder]. Orvosi hetilap, 1971, Dec-19, Volume: 112, Issue:51 Topics: Cataract; Child, Preschool; Diagnosis, Differential; Female; Galactose; Galactosemias; Hexosephosphates; Humans; Metabolism, Inborn Errors; Phosphorus; Phosphotransferases	1971
The nature of the biochemical lesion in avian renal riboflavinuria. 3. The isolation and characterization of the riboflavin-binding protein from egg albumen. Biochimica et biophysica acta, 1969, Dec-23, Volume: 194, Issue:2 Topics: Amino Acids; Animals; Buffers; Carbohydrates; Cellulose; Chemical Phenomena; Chemistry; Chickens; Chromatography, Ion Exchange; Cold Temperature; Drug Stability; Electrophoresis; Female; Galactose; Genes, Recessive; Glucosamine; Homozygote; Hydrogen Peroxide; Hydrogen-Ion Concentration; Mannose; Metabolism, Inborn Errors; Methods; Molecular Weight; Mutation; Osmolar Concentration; Ovalbumin; Poultry Diseases; Protein Binding; Proteins; Riboflavin; Sulfides; Time Factors; Tryptophan; Ultracentrifugation	1969
[Partial and transitory erythrocyte galactokinase deficiency in a newborn. Biochemical study]. Archives francaises de pediatrie, 1970, Volume: 27, Issue:5 Topics: Adolescent; Adult; Blood Glucose; Child; Erythrocytes; Female; Galactose; Glycosuria; Humans; Infant; Infant, Newborn; Infant, Premature; Male; Metabolism, Inborn Errors; Phosphotransferases; Pregnancy	1970
[Galactokinase defect in a newborn infant]. Klinische Wochenschrift, 1970, Jan-01, Volume: 48, Issue:1 Topics: Carbon Isotopes; Cataract; Chromatography, Paper; Chromatography, Thin Layer; Diet Therapy; Erythrocytes; Ethnicity; Female; Galactose; Glucokinase; Humans; Infant, Newborn; Infant, Newborn, Diseases; Metabolism, Inborn Errors; Oxidation-Reduction; RNA Nucleotidyltransferases	1970
Intestinal iron-transport defect in the mouse with sex-linked anemia. The American journal of physiology, 1971, Volume: 220, Issue:1 Topics: Anemia; Animals; Biological Transport, Active; Calcium; Diet; Duodenum; Female; Galactose; Genes, Recessive; In Vitro Techniques; Intestine, Small; Iron; Iron Isotopes; Male; Metabolism, Inborn Errors; Mice; Pregnancy; Proline; Sex Chromosomes	1971
[Enzymopathies in childhood]. Wiener klinische Wochenschrift, 1971, Apr-30, Volume: 83, Issue:17 Topics: Adolescent; Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Galactose; Glucose; Homozygote; Humans; Hypophosphatasia; Infant; Malabsorption Syndromes; Metabolism, Inborn Errors; Rickets; Vitamin D Deficiency	1971
Cytologic alterations in hereditary metabolic disorders. I. The effects of galactose on galactosemic fibroblasts in vitro. Laboratory investigation; a journal of technical methods and pathology, 1968, Volume: 19, Issue:4 Topics: Culture Media; Endoplasmic Reticulum; Fibroblasts; Galactose; Humans; Metabolism, Inborn Errors; Microscopy, Electron; Skin	1968
Enzymes in noncultured amniotic fluid cells. American journal of obstetrics and gynecology, 1969, Mar-01, Volume: 103, Issue:5 Topics: Acid Phosphatase; Alkaline Phosphatase; Amino Acids; Amnion; Amniotic Fluid; Arginase; Arginine; Caproates; Carboxy-Lyases; Female; Galactose; Glucosephosphate Dehydrogenase; Glucosidases; Glucuronidase; Humans; L-Lactate Dehydrogenase; Ligases; Metabolism, Inborn Errors; Mixed Function Oxygenases; Nucleotidyltransferases; Oxidoreductases; Phosphogluconate Dehydrogenase; Pregnancy; Pregnancy Complications; Punctures; Transaminases; Transferases	1969
Nonglucose meliturias. New York state journal of medicine, 1961, Aug-15, Volume: 61 Topics: Carbohydrates; Hexoses; Metabolism, Inborn Errors; Sweetening Agents	1961
Composition of cartilage from lysozyme-deficient rabbits. Biochimica et biophysica acta, 1975, Apr-07, Volume: 385, Issue:2 Topics: Age Factors; Animals; Body Water; Cartilage; Ear, External; Hexoses; Hydroxyproline; Metabolism, Inborn Errors; Muramidase; Organ Specificity; Rabbits; Ribs; Uronic Acids	1975
A new metabolic disorder: myopathy with glycosamino(sialo)glycans accumulation. European neurology, 1974, Volume: 12, Issue:4 Topics: Adenosine Triphosphatases; Adolescent; Glucosamine; Glycogen; Glycosaminoglycans; Hexosamines; Hexoses; Humans; Lyases; Male; Metabolism, Inborn Errors; Microscopy, Electron; Muscles; Muscular Dystrophies; Myofibrils; Neuraminic Acids; Neuraminidase; Periodic Acid; Proteins; Schiff Bases; Staining and Labeling; Uronic Acids	1974
Autosomal dominant forms of hereditary hypertrophic neuropathy. Monographs in human genetics, 1972, Volume: 6 Topics: Age Factors; Ceramides; Chromosome Aberrations; Chromosome Disorders; Genes, Dominant; Hexoses; Humans; Hypertrophy; Metabolism, Inborn Errors; Muscular Atrophy; Neuritis; Syndrome	1972