Page last updated: 2024-08-17

galactose and Carbohydrate Metabolism, Inborn Error

galactose has been researched along with Carbohydrate Metabolism, Inborn Error in 158 studies

Research

Studies (158)

Timeframe	Studies, this research(%)	All Research%
pre-1990	133 (84.18)	18.7374
1990's	12 (7.59)	18.2507
2000's	8 (5.06)	29.6817
2010's	3 (1.90)	24.3611
2020's	2 (1.27)	2.80

Authors

Authors	Studies
Prasad, BS; Yachha, SK	1
Chen, L; Pan, J; Wang, D; Yuan, T; Zhang, F	1
Chen, F; Chen, L; Long, Q; Lu, M; Ma, M; Wang, W; Zhang, T	1
Deligianni, D; Doulgeraki, A; Kalogerakou, M; Monopolis, I; Schulpis, KH	1
Aktuglu-Zeybek, C; Anikster, Y; Bujanover, Y; Dekel, B; Kesselman, D; Pode-Shakked, B; Reish, O	1
Martin, MG; Turk, E; Wright, EM	1
Bakker, HD; Bosch, AM; van Gennip, AH; van Kempen, JV; Wanders, RJ; Wijburg, FA	1
DORMANDY, TL; PORTER, RJ	1
EVANS, PR	1
ANDERSON, CM; KERRY, KR; TOWNLEY, RR	1
BARTHELMAI, W; LINNEWEH, F; SCHAUMLOEFFEL, E	1
HOLLMANN, S	1
Ohtake, A	1
Aydin, HI; Gok, F; Gokcay, E; Kasahara, M; Kurt, I; Maeda, M	1
Jacobstein, D; Mamula, P; Markowitz, J	1
Brunetti-Pierri, N; Craigen, WJ; Opekun, AR	1
Cuthbert, C; Elsas, L; Klapper, H	1
Kvamme, E	1
Clément, R	1
Abraham, JM; Levin, B; Oberholzer, VG; Russell, A	1
Aperia, A; Bergqvist, G; Linné, T; Zetterström, R	1
Iancu, TC; Nitzan, M; Steinherz, R	1
Iwańczak, F; Jagodzińska, M; Klinowska, W	1
Handrick, W; Rieske, K; Scheerschmidt, G; Spencker, FB	1
Avery, GB; Fletcher, AB; Glinsmann, WH; Simmons, MA; Sparks, JW	1
Harries, JT	1
Fells, P; Jones, RB; Kissun, RD; Menzies, IS; Mount, JN; Winder, AF	1
Burdelski, M; Hampel, V; Majewski, A	1
Gardiner, AJ; Hutchison, JG; Sutherland, IT; Symonds, J; Tarlow, MJ	1
Gautier, M; Kadhom, N; Poggi, J; Raynaud, N; Soni, T; Wolfrom, C	1
Itoh, K; Kase, R; Kondoh, K; Oshima, A; Sakuraba, H; Sano, A; Suzuki, Y; Takiyama, N	1
Berry, GT; Elsas, LJ; Gibson, JB; Klein, PD; Lin, Z; Mazur, AT; Nissim, I; Segal, S; Singh, RH	1
Asano, M; Furukawa, K; Iwakura, Y; Kido, M; Kochibe, N; Matsumoto, S; Umesaki, Y	1
Abad-Sinden, A; Borowitz, S; Meyers, R; Sutphen, J	1
Isshiki, G; Okano, Y	1
Bamba, T; Fukuda, M	1
Abe, T; Hayashi, S; Kasahara, M; Maeda, M; Mori, Y	1
Dickersin, R; Dvorak, AM; Friedman, RB; Kistler, JP; Kolodny, EH; Lott, IT; Mihm, MC; Nersasian, R; Schnur, J	1
Rosensweig, NS	1
Kaloud, H; Sitzmann, FC	1
Friedman, TB; Merril, CR; Yarkin, RJ	1
Hill, HZ	1
Osang, M; Schaub, J	1
Sadeghi-Nejad, A; Senior, B	1
Froesch, ER	1
Mitchell, CH; Sinatra, FR; Sunshine, P	1
Cohn, RM; Segal, S; Yudkoff, M	1
Brivet, M; Lemonnier, A; Moatti, N	1
Bloch, R	1
Berry, HK; Bofinger, MK; Wharton, CH	1
Hammersen, G; Levy, HL	1
Kovács, J; Lapis, K; Németh, L	1
McMichael, HB	1
van Heyningen, R	1
Dawson, G; Sung, SS; Tsay, GC	1
Cornblath, M; Schwartz, R	1
Dawson, G; Tsay, GC	1
Belák, V; Schwartzová, I	1
Arashima, S; Ariga, S; Matsuda, I; Mitsuyama, T; Oka, Y	1
Stephens, T	1
Abdullah, AM; Abdullah, MA; Abdurrahman, MB; al Husain, MA	1
Callahan, JW; D'Agrosa, RM; Hubbes, M; Shankaran, R; Zhang, S	1
Ghishan, FK	1
Beyreiss, K	1
Hata, M; Ichiba, Y; Inoue, B; Misumi, H; Mori, T; Wada, H	1
Auricchio, G; De Rosa, G; Di Meo, A; Lauro, G; Napoli, R; Nesti, A; Picardi, A; Rinaldi, E; Simonelli, F	1
Miyashita, K; Miyatake, T; Miyatani, N; Tsuji, S; Yoshino, H	1
Baptista, J; Brivet, M; Gautier, M; Kadhom, N; Lemonnier, A	1
Biller, JA; Grand, RJ; Mobassaleh, M; Montgomery, RK	1
Jaeken, J	1
Chong, AS; Low, PS; Quak, SH	1
Allen, JT; Hodges, IC; Holton, JB; Lennox, AC	1
Igarashi, Y	1
Kono, N; Tarui, S	1
Buentello, G; Listernick, R; Lloyd-Still, JD	1
Fielder, AR; Menzies, JS; Mount, JN; Winder, AF	1
Dormandy, TL; Nabarro, JD; Spathis, GS; Turner, RC	1
Feist, D; Rossner, JA	1
Gupta, JD; Harley, JD; Irvine, S; Mutton, P	1
Lamberg, SI; Stoolmiller, AC	1
Gitzelmann, R	2
Baker, L; Winegrad, AI	1
Ho, MW; Hu, CC; MacBrinn, MC; O'Brien, JS; Okada, S	1
Bach, G; Berman, ER; Vered, J	1
Callahan, JW; Pinsky, L; Wolfe, LS	1
Harvey, J; Robertson, WV	1
Bach, G; Cantz, M; Eisenberg, F; Neufeld, EF	1
Hambraeus, L; Holmgren, G	1
Humbel, R	1
Callahan, JW; Wolfe, LS	1
Baerlocher, K; Gitzelmann, R; Prader, A	1
Sidbury, JB	1
Donnell, GN; Frasier, SD; McVie, R; Ng, WG; Olambiwonnu, NO	1
Ng-Ying-Kin, NM; Senior, RG; Wolfe, LS	1
Bickel, H; Schmidt, H; Schürrle, L	1
Olsen, WA	1
Adachi, F; Phillips, MJ; Yu, DT	1
Berra, B; Brunngraber, EG; Zambotti, V	1
McGill, DB; Phillips, SF	1
Popescu, V; Prişcu, R	1
Ciuffini, G; Ghebregzabher, M; Lato, M; Rufini, S	1
Kitagawa, T	1
Bayless, TM; Christopher, NL	1
Peternel, WW	1
Eggermont, E	1
Ockerman, PA	1
Kinter, WB; Schneider, AJ; Stirling, CE; Wong, MD	1
Humbel, R; Kutter, D	1
Beutler, E	1
Howell, RR; Pickering, WR	1
Fiehring, C; Koch, HA; Koch, Y	1
Cook, JG; Don, NA; Mann, TP	1
Berger, H	1
Montreuil, J; Strecker, G	2
Dahlqvist, A	1
Fernandes, J; Huijing, F	1
Mukhopadhyay, D; Rennert, OM	1
Domagk, GF; Zech, R	1
Beneke, G; Schrader, KE	1
Meeuwisse, GW; Melin, K	1
Gitzelmann, R; Illig, R	1
Gottschalk, B; Hinkel, GK; Roschlau, G	1
Kaijser, K; Ockerman, PA	1
Lindquist, B; Meeuwisse, GW	1
Meeuwisse, GW	1
Chen, PT; Cravey, CE; Hall, WK; Hollowell, JG; Ostendorff, ME; Thevaos, TG	1
Rind, H	1
Fiehring, C; Koslowski, H	1
Prader, A	1
Bettens, W; Casteels-Van Daele, M; Corbeel, LM; Eggermont, E; Timmermans, J	1
Beutler, E; Casey, EC; Monteleone, JA; Monteleone, PL; Utz, CL	1
Swoboda, W	1
Hessel, D; Türk, E; Zöllner, H	1
Beyreiss, K; Theile, H; Willgerodt, H	1
Göthe, S; Linneweh, F	1
Dahlqvist, A; Meeuwisse, GW	1
Guthrie, R; Mayes, JS	1
Linneweh, F	1
Chandra, RK; Ghai, OP; Pawa, RR	1
Salazar de Sousa, C	1
Kinter, WB; Schneider, AJ; Stirling, CE	1
Lindquist, B; Meeuwisse, G	1
Hansen, O	1
Fordtran, JS; Marks, JF; Norton, JB	1
VAN DE KAMER, JH; WEIJERS, HA	1
BERIO, A; LAMEDICA, GM; NORDIO, S; VIGNOLO, L	1
Dekaban, AS; Patton, VM	1
Dorfman, A; Matalon, R	1
Bach, G; Friedman, R; Neufeld, EF; Weissmann, B	1
Hovingh, P; Linker, A	1
Stanescu, R; Stanescu, V; Szirmai, JA	1
Girard, J; Herz, G	1
Autio, S; Lundblad, A; Nordén, NE; Ockerman, PA; Svensson, S	1
Boisse, J	1
Arstila, A; Autio, S; Palo, J; Riekkinen, P	1

Reviews

21 review(s) available for galactose and Carbohydrate Metabolism, Inborn Error

Article	Year
Molecular basis for glucose-galactose malabsorption. Cell biochemistry and biophysics, 2002, Volume: 36, Issue:2-3 Topics: Carbohydrate Metabolism, Inborn Errors; Chromosomes, Human, Pair 22; Female; Galactose; Glucose; Humans; Infant, Newborn; Intestinal Absorption; Malabsorption Syndromes; Male; Membrane Glycoproteins; Monosaccharide Transport Proteins; Mutation; Sodium-Glucose Transporter 1	2002
Clinical features of galactokinase deficiency: a review of the literature. Journal of inherited metabolic disease, 2002, Volume: 25, Issue:8 Topics: Carbohydrate Metabolism, Inborn Errors; Cataract; Galactokinase; Galactose; Galactosemias; Humans; Pseudotumor Cerebri	2002
[Inborn errors of carbohydrate metabolism]. Ryoikibetsu shokogun shirizu, 2003, Issue:39 Topics: Carbohydrate Metabolism, Inborn Errors; Fructose Metabolism, Inborn Errors; Galactose; Glycogen Storage Disease; Humans	2003
Disorders of carbohydrate absorption. Clinics in gastroenterology, 1982, Volume: 11, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Galactose; Glucose; Humans; Hydrolysis; Intestinal Absorption; Lactose Intolerance; Malabsorption Syndromes; Starch; Sucrase-Isomaltase Complex; Trehalase	1982
[Galactose-1-phosphate uridyltransferase deficiency]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Carbohydrate Metabolism, Inborn Errors; Contraindications; Diagnosis, Differential; Female; Galactose; Galactosemias; Genes, Recessive; Humans; Infant, Newborn; Mutation; Neonatal Screening; Pregnancy; Prenatal Diagnosis; Prognosis; UTP-Hexose-1-Phosphate Uridylyltransferase	1998
[Selective congenital glucose, galactose malabsorption in the small intestine]. Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Diagnosis, Differential; Galactose; Glucose; Humans; Intestinal Absorption; Malabsorption Syndromes; Membrane Glycoproteins; Monosaccharide Transport Proteins; Mutation; Sodium-Glucose Transporter 1	1998
[Congenital disorders of galactose metabolism]. Medizinische Klinik, 1975, Mar-21, Volume: 70, Issue:12 Topics: Austria; Black or African American; Black People; Carbohydrate Epimerases; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Female; Galactose; Galactosemias; Genetic Counseling; Germany, West; Heterozygote; Homozygote; Humans; Hungary; Infant; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Nucleotidyltransferases; Phosphotransferases; Pregnancy; Prenatal Diagnosis; Prognosis	1975
The glycogenoses and other inherited disorders of carbohydrate metabolism. Clinics in perinatology, 1976, Volume: 3, Issue:1 Topics: 1,4-alpha-Glucan Branching Enzyme; Carbohydrate Metabolism, Inborn Errors; Fructose; Fructose Intolerance; Galactose; Glucokinase; Glycogen Storage Disease; Hexokinase; Humans; Infant, Newborn; Liver; Liver Glycogen; Phosphoglucomutase; Phosphorylases; Phosphotransferases; UTP-Glucose-1-Phosphate Uridylyltransferase; UTP-Hexose-1-Phosphate Uridylyltransferase	1976
[Hereditary abnormalities of galactose metabolism: diagnosis and biochemical supervision (author's transl)]. Annales de biologie clinique, 1979, Volume: 37, Issue:5 Topics: Biological Assay; Carbohydrate Epimerases; Carbohydrate Metabolism, Inborn Errors; Chromatography, Paper; Erythrocytes; Escherichia coli; Female; Galactokinase; Galactose; Galactosemias; Heterozygote; Homozygote; Humans; Infant, Newborn; Infant, Newborn, Diseases; Nucleotidyltransferases; Pregnancy; Prenatal Diagnosis; UDPglucose 4-Epimerase; UDPglucose-Hexose-1-Phosphate Uridylyltransferase	1979
Disorders of carbohydrate digestion and absorption. Clinics in endocrinology and metabolism, 1976, Volume: 5, Issue:3 Topics: Aging; Blood Glucose; Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Colon; Dietary Carbohydrates; Digestion; Disaccharides; Galactose; Glucose; Humans; Infant, Newborn; Intestinal Absorption; Intestinal Mucosa; Intestines; Lactose; Lactose Intolerance; Malabsorption Syndromes; Models, Biological; Monosaccharides; Pharmaceutical Preparations; Starch	1976
Sugar alcohols in the pathogenesis of galactose and diabetic cataracts. Birth defects original article series, 1976, Volume: 12, Issue:3 Topics: Aldehyde Reductase; Animals; Carbohydrate Metabolism, Inborn Errors; Cataract; Chemical Phenomena; Chemistry; Diabetes Complications; Galactose; Galactosemias; Humans; Lens, Crystalline; Sorbitol; Sugar Alcohols	1976
[Clinical and pathobiochemical findings in genetic diseases of carbohydrate and lipid metabolism]. Zentralblatt fur Pathologie, 1992, Volume: 138, Issue:3 Topics: Carbohydrate Metabolism, Inborn Errors; Fructose; Galactose; Glycogen Storage Disease; Humans; Hyperlipoproteinemias; Lipid Metabolism, Inborn Errors; Sphingolipidoses	1992
[Late-infantile form galactosialidosis with psychomotor retardation and spastic paraparesis]. Rinsho shinkeigaku = Clinical neurology, 1989, Volume: 29, Issue:10 Topics: beta-Galactosidase; Carbohydrate Metabolism, Inborn Errors; Child; Galactose; Humans; Intellectual Disability; Male; Neuraminidase; Paraparesis, Tropical Spastic; Psychomotor Disorders; Sialic Acids	1989
Glycosaminoglycans. A biochemical and clinical review. The Journal of investigative dermatology, 1974, Volume: 63, Issue:6 Topics: Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Chondroitin; Cornea; Corneal Opacity; Dermatan Sulfate; Fibroblasts; Galactose; Glucosamine; Glycosaminoglycans; Heparin; Humans; Hyaluronic Acid; Hyaluronoglucosaminidase; Intellectual Disability; Male; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Proteoglycans; Retinitis Pigmentosa; Skin; Staining and Labeling; Sulfatases; Testis	1974
Dietary treatment of inborn errors of amino acid and carbohydrate metabolism. Bibliotheca nutritio et dieta, 1973, Issue:18 Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Child; Child Development; Child Nutritional Physiological Phenomena; Child, Preschool; Cystinosis; Diet Therapy; Galactose; Glucose; Histidine; Homocystinuria; Humans; Infant; Infant Nutrition Disorders; Infant, Newborn; Lactose Intolerance; Malabsorption Syndromes; Maple Syrup Urine Disease; Phenylketonurias; Sucrose; Tyrosine	1973
Carbohydrate absorption. The Medical clinics of North America, 1974, Volume: 58, Issue:6 Topics: Amylases; Biological Transport, Active; Carbohydrate Metabolism, Inborn Errors; Dietary Carbohydrates; Disaccharidases; Epithelial Cells; Epithelium; Galactose; Glucose; Humans; Ileum; Intestinal Absorption; Intestinal Mucosa; Jejunum; Lactates; Pancreatic Juice	1974
[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
Disaccharidase deficiency. The American journal of clinical nutrition, 1969, Volume: 22, Issue:2 Topics: Adolescent; Adult; Carbohydrate Metabolism, Inborn Errors; Disaccharides; Galactose; Glucose; Glycoside Hydrolases; Humans; Intestinal Absorption; Lactose Intolerance; Metabolic Diseases; Nutritional Physiological Phenomena; Sucrose	1969
Disaccharidase deficiency. The Medical clinics of North America, 1968, Volume: 52, Issue:6 Topics: Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Celiac Disease; Colitis, Ulcerative; Crohn Disease; Deficiency Diseases; Diarrhea; Galactose; Glucose; Glycoside Hydrolases; Humans; Intestinal Absorption; Intestinal Mucosa; Kwashiorkor; Lactose Intolerance; Malabsorption Syndromes; Monosaccharides; Peptic Ulcer; Sprue, Tropical; Sucrase	1968
The genetics of intestinal carbohydrate intolerance. Progress in medical genetics, 1969, Volume: 6 Topics: Carbohydrate Metabolism, Inborn Errors; Fructose; Galactose; Glucose; Glycoside Hydrolases; Humans; Intestinal Absorption; Intestinal Mucosa; Lactose Intolerance; Malabsorption Syndromes; Starch; Sucrose	1969
[New etiologic approach to periodic ketoacidosis in children]. Canadian Medical Association journal, 1971, Aug-07, Volume: 105, Issue:3 Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Butyrates; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Dehydration; Diabetic Ketoacidosis; Female; Glycogen Storage Disease; Hexoses; Humans; Hydrogen-Ion Concentration; Hypoglycemia; Infant; Infant, Newborn; Ketone Bodies; Lactation Disorders; Lipid Metabolism, Inborn Errors; Maple Syrup Urine Disease; Methionine; Periodicity; Pregnancy; Propionates; Pyruvates; Vomiting	1971

Trials

1 trial(s) available for galactose and Carbohydrate Metabolism, Inborn Error

Article	Year
Parenteral galactose therapy in the glucose-intolerant premature infant. The Journal of pediatrics, 1982, Volume: 100, Issue:2 Topics: Blood Glucose; Carbohydrate Metabolism, Inborn Errors; Clinical Trials as Topic; Double-Blind Method; Galactose; Galactosemias; Glucose; Glycosuria; Humans; Infant, Newborn; Infant, Premature, Diseases; Infusions, Parenteral; Liver; Random Allocation	1982

Other Studies

136 other study(ies) available for galactose and Carbohydrate Metabolism, Inborn Error

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
Nutrition management of congenital glucose-galactose malabsorption: Case report of a Chinese infant. Medicine, 2019, Volume: 98, Issue:33 Topics: Carbohydrate Metabolism, Inborn Errors; China; Diet, Carbohydrate-Restricted; Female; Galactose; Glucose; Humans; Infant Formula; Infant, Newborn; Malabsorption Syndromes; Mutation; Sodium-Glucose Transporter 1	2019
Body composition in young patients with galactose metabolic disorders: a preliminary report. Journal of pediatric endocrinology & metabolism : JPEM, 2014, Volume: 27, Issue:1-2 Topics: Absorptiometry, Photon; Adolescent; Body Composition; Carbohydrate Metabolism, Inborn Errors; Child; Female; Galactose; Humans; Male	2014
Bitterness of glucose/galactose: novel mutations in the SLC5A1 gene. Journal of pediatric gastroenterology and nutrition, 2014, Volume: 58, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Codon; Exons; Galactose; Genotype; Glucose; Humans; Mutation; Sequence Analysis, DNA; Sodium-Glucose Transporter 1	2014
Familial fructose and galactose intolerance. Lancet (London, England), 1961, Jun-03, Volume: 1, Issue:7188 Topics: Carbohydrate Metabolism, Inborn Errors; Fructose; Galactose; Humans; Medical Records; Metabolic Diseases	1961
HYPOGLYCAEMIA INDUCED BY LACTOSE OR GALACTOSE. Lancet (London, England), 1965, Apr-03, Volume: 1, Issue:7388 Topics: Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Consanguinity; Diarrhea; Diarrhea, Infantile; Galactose; Glucose Tolerance Test; Hemiplegia; Humans; Hypoglycemia; Infant; Infant, Newborn; Lactose; Lactose Intolerance; Malabsorption Syndromes; Seizures	1965
AN INBORN DEFECT OF INTESTINAL ABSORPTION OF CERTAIN MONOSACCHARIDES. Archives of disease in childhood, 1965, Volume: 40 Topics: Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Diarrhea; Diarrhea, Infantile; Diet; Diet Therapy; Feces; Fluids and Secretions; Fructose; Galactose; Glucose; Hexoses; Humans; Infant; Infant, Newborn; Intestinal Absorption; Lactose; Maltose; Monosaccharides; Sucrose; Urine; Xylose	1965
[CONGENITAL GLUCOSE AND GALACTOSE MALABSORPTION]. Klinische Wochenschrift, 1965, Apr-15, Volume: 43 Topics: Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Diet; Diet Therapy; Fructose; Galactose; Glucose; Humans; Intestinal Absorption; Malabsorption Syndromes	1965
[On the biochemistry of essential pentosuria, congenital galactosemia and phenylketonuria]. Klinische Wochenschrift, 1959, Jul-15, Volume: 37 Topics: Carbohydrate Metabolism, Inborn Errors; Galactose; Galactosemias; Humans; Pentoses; Phenylketonurias; Sugar Alcohol Dehydrogenases; Xylulose	1959
A novel mutation of Na+/glucose cotransporter in a Turkish newborn with congenital glucose-galactose malabsorption. Journal of pediatric gastroenterology and nutrition, 2005, Volume: 40, Issue:4 Topics: Carbohydrate Metabolism, Inborn Errors; Exons; Female; Galactose; Glucose; Humans; Immunohistochemistry; Infant, Newborn; Malabsorption Syndromes; Monosaccharide Transport Proteins; Mutation, Missense; Pedigree	2005
A 2-month-old with persistent diarrhea. MedGenMed : Medscape general medicine, 2005, Mar-10, Volume: 7, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Diarrhea, Infantile; Galactose; Glucose; Humans; Infant; Male	2005
Two familial cases of high blood galactose of unknown aetiology. Journal of inherited metabolic disease, 2006, Volume: 29, Issue:6 Topics: Carbohydrate Metabolism, Inborn Errors; Cell Membrane; Chromosomes, Human, X; Family Health; Galactitol; Galactose; Galactosemias; Galactosephosphates; Humans; Infant, Newborn; Lactose; Male	2006
Diagnosis of inherited disorders of galactose metabolism. Current protocols in human genetics, 2008, Volume: Chapter 17 Topics: Carbohydrate Metabolism, Inborn Errors; DNA Mutational Analysis; DNA Primers; Galactitol; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Genetics, Medical; Humans; Infant, Newborn; Neonatal Screening; Polymerase Chain Reaction; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase	2008
[Diseases with enzyme defects in carbohydrate metabolism]. Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1967, Mar-01, Volume: 87, Issue:5 Topics: Carbohydrate Metabolism, Inborn Errors; Fructose; Galactose; Glucosephosphate Dehydrogenase Deficiency; Glucosyltransferases; Glycogen; Humans	1967
[Galactose intolerance]. La Presse medicale, 1967, Oct-28, Volume: 75, Issue:45 Topics: Carbohydrate Metabolism, Inborn Errors; Galactose; Humans	1967
Glucose-galactose malabsorption. Archives of disease in childhood, 1967, Volume: 42, Issue:226 Topics: Carbohydrate Metabolism, Inborn Errors; Diarrhea; Female; Galactose; Glucose; Humans; Infant, Newborn; Intestinal Absorption; Jejunum; Lactose Intolerance	1967
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
Hypernatremic dehydration as a sign leading to the diagnosis of glucose-galactose malabsorption in breast-fed neonates. Helvetica paediatrica acta, 1984, Volume: 39, Issue:3 Topics: Carbohydrate Metabolism, Inborn Errors; Dehydration; Female; Galactose; Glucose; Humans; Hypernatremia; Infant, Newborn; Malabsorption Syndromes	1984
[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
[Sepsis due to E. coli in newborns with galactose intolerance (author's transl)]. Padiatrie und Padologie, 1981, Volume: 16, Issue:1 Topics: Anti-Bacterial Agents; Carbohydrate Metabolism, Inborn Errors; Escherichia coli Infections; Galactose; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male	1981
Galactose intolerance and the risk of cataract. The British journal of ophthalmology, 1982, Volume: 66, Issue:7 Topics: Carbohydrate Metabolism, Inborn Errors; Cataract; Child; Female; Galactokinase; Galactose; Humans; Risk; UTP-Hexose-1-Phosphate Uridylyltransferase	1982
[Infantile scurvy in glucose-galactose malabsorption]. Rontgen-Blatter; Zeitschrift fur Rontgen-Technik und medizinisch-wissenschaftliche Photographie, 1982, Volume: 35, Issue:12 Topics: Bone Diseases; Calcinosis; Carbohydrate Metabolism, Inborn Errors; Galactose; Glucose; Humans; Infant; Male; Radiography; Scurvy; Ultrasonography	1982
Failure of the hydrogen breath test to detect pulmonary sugar malabsorption. Archives of disease in childhood, 1981, Volume: 56, Issue:5 Topics: Adolescent; Breath Tests; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; False Negative Reactions; Feces; Female; Galactose; Glucose; Humans; Hydrogen; Infant; Lactulose; Male; Sucrose	1981
Impaired hexose uptake by diploid skin fibroblasts from galactosaemic patients. Connection with cell growth and amino acid metabolism, and possible bearing on late-onset clinical symptoms. Journal of inherited metabolic disease, 1993, Volume: 16, Issue:1 Topics: Adolescent; Amino Acids; Blood Glucose; Carbohydrate Metabolism, Inborn Errors; Cell Division; Cells, Cultured; Child; Child, Preschool; Diploidy; Fibroblasts; Galactose; Galactosemias; Glucose; Glutamate-Ammonia Ligase; Hexoses; Humans; Infant; Infant, Newborn; Lactates; Skin	1993
Purification and characterization of human lysosomal protective protein expressed in stably transformed Chinese hamster ovary cells. The Journal of biological chemistry, 1993, Jan-15, Volume: 268, Issue:2 Topics: Animals; beta-Galactosidase; beta-N-Acetylhexosaminidases; Carbohydrate Metabolism, Inborn Errors; Carboxypeptidases; Cells, Cultured; CHO Cells; Cricetinae; Cytosol; DNA, Recombinant; Enzyme Stability; Fibroblasts; Galactose; Genetic Vectors; Guanine Nucleotides; Humans; Kinetics; Metallothionein; Mice; Molecular Weight; Neuraminidase; Promoter Regions, Genetic; Recombinant Proteins; Skin; Thermodynamics; Transfection	1993
In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency. Biochemical and molecular medicine, 1995, Volume: 56, Issue:2 Topics: Adolescent; Adult; Breath Tests; Carbohydrate Metabolism, Inborn Errors; Carbon Isotopes; Child; Female; Galactose; Glucose; Humans; Male; Mass Spectrometry; Mutation; Reproducibility of Results; UTP-Hexose-1-Phosphate Uridylyltransferase	1995
Growth retardation and early death of beta-1,4-galactosyltransferase knockout mice with augmented proliferation and abnormal differentiation of epithelial cells. The EMBO journal, 1997, Apr-15, Volume: 16, Issue:8 Topics: alpha-Glucosidases; Animals; beta-Galactosidase; beta-N-Acetylglucosaminylglycopeptide beta-1,4-Galactosyltransferase; Carbohydrate Metabolism, Inborn Errors; Carbohydrate Sequence; Cell Differentiation; Cell Division; Epithelium; Female; Galactose; Growth Disorders; Intestine, Small; Lactase; Male; Mice; Mice, Knockout; Microvilli; Molecular Sequence Data; N-Acetyllactosamine Synthase; Skin; Sucrase-Isomaltase Complex	1997
Nutrition management of congenital glucose-galactose malabsorption: a case study. Journal of the American Dietetic Association, 1997, Volume: 97, Issue:12 Topics: Absorption; Carbohydrate Metabolism, Inborn Errors; Female; Galactose; Glucose; Humans; Infant Food; Infant, Newborn; Intestinal Mucosa; Jejunum; Malabsorption Syndromes; Nutrition Assessment	1997
A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein. Biochimica et biophysica acta, 2001, May-31, Volume: 1536, Issue:2-3 Topics: Animals; Base Sequence; Carbohydrate Metabolism, Inborn Errors; Exons; Female; Galactose; Glucose; Humans; Infant, Newborn; Malabsorption Syndromes; Membrane Glycoproteins; Monosaccharide Transport Proteins; Mutation, Missense; Oocytes; Pedigree; Sodium-Glucose Transporter 1; Xenopus	2001
Mannosidosis. New clinical presentation, enzyme studied, and carbohydrate analysis. Archives of neurology, 1977, Volume: 34, Issue:1 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Child; Disaccharidases; Galactose; Gingiva; Gingival Hyperplasia; Glucosamine; Humans; Hydrogen-Ion Concentration; Male; Mannose; Mannosidases	1977
Other carbohydrate intolerances. Current concepts in nutrition, 1979, Volume: 8 Topics: beta-Galactosidase; Carbohydrate Metabolism, Inborn Errors; Dietary Carbohydrates; Galactose; Galactosemias; Glucose; Humans; Lactose; Lactose Intolerance; Malabsorption Syndromes	1979
Galactose and glucose metabolism in galactokinase deficient, galactose-1-P-uridyl transferase deficient and normal human fibroblasts. Journal of cellular physiology, 1975, Volume: 85, Issue:3 Topics: Adult; Biochemistry; Carbohydrate Metabolism, Inborn Errors; Carbon Dioxide; Cell Line; Child; Child, Preschool; Female; Fibroblasts; Galactose; Galactosemias; Glucose; Humans; Infant; Infant, Newborn; Kinetics; Male; Middle Aged; Nucleotidyltransferases; Phenotype; Phosphotransferases; UTP-Hexose-1-Phosphate Uridylyltransferase	1975
Detection of inborn errors of metabolism. IV. Galactokinase deficiency. Clinical genetics, 1975, Volume: 8, Issue:3 Topics: Carbohydrate Metabolism, Inborn Errors; Cell Line; Female; Fibroblasts; Galactose; Galactosemias; Humans; Phosphotransferases; Pregnancy; Prenatal Diagnosis	1975
[Congenital enzyme deficiency in carbohydrate metabolism. Its significance for clinical pediatrics and human biochemical genetics (author's transl)]. MMW, Munchener medizinische Wochenschrift, 1976, May-07, Volume: 118, Issue:19 Topics: Carbohydrate Metabolism, Inborn Errors; Fructose Intolerance; Fructose-1,6-Diphosphatase Deficiency; Galactose; Galactosemias; Glycogen Storage Disease Type I; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type VI; Glycogen Synthase; Humans; Infant; Infant, Newborn; Lactates; Liver; Phosphotransferases; Pyruvate Carboxylase Deficiency Disease; Pyruvate Dehydrogenase Complex Deficiency Disease; Racemases and Epimerases	1976
Disorders of fructose metabolism. Clinics in endocrinology and metabolism, 1976, Volume: 5, Issue:3 Topics: Aging; Carbohydrate Metabolism, Inborn Errors; Fructose; Fructose Intolerance; Fructose-1,6-Diphosphatase Deficiency; Galactose; Humans; Infant; Infant, Newborn	1976
Intractable diarrhoea of infancy. Clinics in gastroenterology, 1977, Volume: 6, Issue:2 Topics: Carbohydrate Metabolism, Inborn Errors; Colitis; Cystic Fibrosis; Diarrhea, Infantile; Galactose; Glucose; Humans; Immunologic Deficiency Syndromes; Infant; Intestines; Megacolon; Neoplasms; Neoplasms, Germ Cell and Embryonal; Postoperative Complications	1977
Errors of carbohydrate metabolism in infants and children: a survey. Clinical pediatrics, 1978, Volume: 17, Issue:11 Topics: Carbohydrate Metabolism, Inborn Errors; Diarrhea; Fructokinases; Fructose Intolerance; Fructose-1,6-Diphosphatase Deficiency; Galactokinase; Galactose; Galactosemias; Glucose; Humans; Lactose Intolerance; Malabsorption Syndromes; Sucrase-Isomaltase Complex; Syndrome; Transferases; Uridine Diphosphate Galactose	1978
[Normal nutrition--malnutrition during malassimilation?]. Infusionstherapie und klinische Ernahrung, 1977, Volume: 4, Issue:1 Topics: Amino Acids; Animals; Carbohydrate Metabolism, Inborn Errors; Celiac Disease; Galactose; Glucose; Glycoside Hydrolases; Humans; Intestinal Absorption; Intestinal Mucosa; Intestines; Lactose Intolerance; Malabsorption Syndromes; Milk; Sucrase	1977
Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote. Clinical genetics, 1978, Volume: 13, Issue:2 Topics: Blood Glucose; Carbohydrate Metabolism, Inborn Errors; Erythrocytes; Galactose; Galactosephosphates; Glucose Tolerance Test; Heterozygote; Hexosephosphates; Humans; Infant; Male; Transferases	1978
Newborn screening for galactosemia and other galactose metabolic defects. The Journal of pediatrics, 1978, Volume: 92, Issue:6 Topics: Carbohydrate Metabolism, Inborn Errors; Costs and Cost Analysis; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening	1978
[Galactose metabolism disturbance and small intestine lesions]. Verhandlungen der Deutschen Gesellschaft fur Pathologie, 1978, Volume: 62 Topics: Carbohydrate Metabolism, Inborn Errors; Galactose; Galactosemias; Humans; Infant; Intestinal Mucosa; Intestine, Small	1978
Structure of the accumulating oligosaccharide in fucosidosis. The Journal of biological chemistry, 1976, Oct-10, Volume: 251, Issue:19 Topics: Acetylglucosamine; alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Fucose; Galactose; Glycopeptides; Glycosphingolipids; Humans; Kidney; Lung; Lymph Nodes; Mannose; Molecular Weight; Oligosaccharides; Pancreas; Sialic Acids; Spleen	1976
Disorders of carbohydrate metabolism in infancy. Major problems in clinical pediatrics, 1976, Volume: 3 Topics: Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Diabetes Mellitus, Type 1; Female; Fructose Intolerance; Galactose; Glucose; Glycogen; Homeostasis; Humans; Hydrocortisone; Hypoglycemia; Infant; Infant, Newborn; Malabsorption Syndromes; Male; Metabolic Diseases; Pregnancy; Pregnancy in Diabetics; Syndrome	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
[Fructose intolerance in the biochemical and clinical picture]. Vnitrni lekarstvi, 1975, Volume: 21, Issue:5 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Female; Fructose; Fructose Intolerance; Galactose; Humans	1975
Prenatal diagnosis of fucosidosis. Clinica chimica acta; international journal of clinical chemistry, 1975, Aug-18, Volume: 63, Issue:1 Topics: alpha-L-Fucosidase; Amniotic Fluid; Carbohydrate Metabolism, Inborn Errors; Disaccharidases; Female; Fucose; Galactose; Hexosamines; Humans; Mannose; Mannosidases; Pregnancy; Prenatal Diagnosis; Sialic Acids	1975
Nutrition of orphan marsupials. Australian veterinary journal, 1975, Volume: 51, Issue:10 Topics: Animal Feed; Animal Nutritional Physiological Phenomena; Animals; Avitaminosis; Calcium; Carbohydrate Metabolism, Inborn Errors; Cataract; Disaccharides; Galactose; Lactose; Marsupialia; Milk; Weaning	1975
Glucose-galactose malabsorption with renal stones in a Saudi child. Annals of tropical paediatrics, 1992, Volume: 12, Issue:3 Topics: Carbohydrate Metabolism, Inborn Errors; Chronic Disease; Diarrhea, Infantile; Female; Galactose; Glucose; Humans; Infant; Kidney Calculi; Malabsorption Syndromes; Saudi Arabia	1992
Characteristics of the beta-galactosidase-carboxypeptidase complex in GM1-gangliosidosis and beta-galactosialidosis fibroblasts. The Biochemical journal, 1992, Aug-01, Volume: 285 ( Pt 3) Topics: beta-Galactosidase; Carbohydrate Metabolism, Inborn Errors; Carboxypeptidases; Cell Line; Fibroblasts; Galactose; Gangliosidosis, GM1; Humans; Immunosorbent Techniques; Macromolecular Substances; Molecular Weight; N-Acetylneuraminic Acid; Neuraminidase; Sialic Acids	1992
Malabsorption: molecular biology to the bedside. Gastroenterology, 1992, Volume: 103, Issue:3 Topics: Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Female; Galactose; Genetic Carrier Screening; Glucose; Homozygote; Humans; Monosaccharide Transport Proteins; Mutation; Polymerase Chain Reaction	1992
Results of newborn screening for galactose metabolic disorders. Journal of inherited metabolic disease, 1990, Volume: 13, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Galactose; Galactosemias; Galactosephosphates; Genetic Carrier Screening; Humans; Infant, Newborn; Mass Screening; UDPglucose 4-Epimerase	1990
Cataract formation in patients with lactose and galactose disorders. Developments in ophthalmology, 1989, Volume: 17 Topics: beta-Galactosidase; Carbohydrate Metabolism, Inborn Errors; Cataract; Galactokinase; Galactose; Humans; Lactose; Middle Aged; UTP-Hexose-1-Phosphate Uridylyltransferase	1989
[Metabolic cooperation in cocultures of fibroblasts from patients with various abnormalities of galactose metabolism]. Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie, 1989, Volume: 308, Issue:17 Topics: Carbohydrate Metabolism, Inborn Errors; Cell Communication; Cells, Cultured; Fibroblasts; Galactokinase; Galactose; Humans; Nucleotidyltransferases; UDPglucose-Hexose-1-Phosphate Uridylyltransferase	1989
Development of carbohydrate absorption in the fetus and neonate. Pediatrics, 1985, Volume: 75, Issue:1 Pt 2 Topics: Adaptation, Physiological; alpha-Glucosidases; Amylases; beta-Galactosidase; Biological Transport; Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Dietary Carbohydrates; Female; Fetus; Galactose; Glucan 1,4-alpha-Glucosidase; Glucose; Humans; Infant, Newborn; Intestinal Absorption; Intestinal Mucosa; Lactose Intolerance; Malabsorption Syndromes; Oligo-1,6-Glucosidase; Pancreas; Pregnancy; Sucrase; Sucrase-Isomaltase Complex	1985
[A not-previously described hereditary neurological disease with a deficiency of sialic acid, galactose and N-acetylglucosamine of plasma glycoproteins]. Verhandelingen - Koninklijke Academie voor Geneeskunde van Belgie, 1989, Volume: 51, Issue:4 Topics: Acetylglucosamine; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Demyelinating Diseases; Diseases in Twins; Female; Galactose; Glucosamine; Humans; Intellectual Disability; Sialic Acids; Syndrome; Twins, Monozygotic	1989
Glucose-galactose malabsorption--a report in a Chinese family. The Journal of the Singapore Paediatric Society, 1989, Volume: 31, Issue:3-4 Topics: Carbohydrate Metabolism, Inborn Errors; Galactose; Glucose; Humans; Infant; Infant, Newborn; Malabsorption Syndromes; Male	1989
Early morning urine galactitol levels in relation to galactose intake: a possible method of monitoring the diet in galactokinase deficiency. Journal of inherited metabolic disease, 1988, Volume: 11 Suppl 2 Topics: Carbohydrate Metabolism, Inborn Errors; Diet; Female; Galactitol; Galactokinase; Galactose; Humans; Infant; Infant, Newborn; Male; Pregnancy; Sugar Alcohols; Time Factors	1988
[Sugar malabsorption]. Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1988, Volume: 33, Issue:5 Topics: beta-Galactosidase; Carbohydrate Metabolism, Inborn Errors; Galactose; Galactosidases; Glucose; Humans; Sucrose	1988
[Disorders in carbohydrate metabolism]. Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1988, Volume: 33, Issue:5 Topics: Carbohydrate Metabolism, Inborn Errors; Erythrocytes; Fructose Metabolism, Inborn Errors; Galactose; Gluconeogenesis; Glycogen; Humans; Kidney; Liver; Muscles	1988
Complex carbohydrate intolerance: diagnostic pitfalls and approach to management. The Journal of pediatrics, 1988, Volume: 112, Issue:5 Topics: Carbohydrate Metabolism, Inborn Errors; Diarrhea; Galactose; Glucose; Humans; Infant, Newborn; Intestines; Malabsorption Syndromes; Male; Sucrase-Isomaltase Complex; Sucrose	1988
Direct and maternal aspects of the risk of cataract with partial disorders of galactose metabolism. Clinical genetics, 1985, Volume: 28, Issue:3 Topics: Adolescent; Adult; Carbohydrate Metabolism, Inborn Errors; Cataract; Female; Galactokinase; Galactose; Heterozygote; Humans; Infant; Infant, Newborn; Male; Maternal-Fetal Exchange; Pregnancy; Risk; UTP-Hexose-1-Phosphate Uridylyltransferase	1985
Familial fructose and galactose intolerance. Lancet (London, England), 1972, Oct-21, Volume: 2, Issue:7782 Topics: Carbohydrate Metabolism, Inborn Errors; Female; Fructose; Galactose; Glucagon; Glucose; Humans; Hyperinsulinism; Hypoglycemia; Injections, Intravenous	1972
[Hereditary fructose intolerance (author's transl)]. Verhandlungen der Deutschen Gesellschaft fur Pathologie, 1971, Volume: 55 Topics: Biopsy; Carbohydrate Metabolism, Inborn Errors; Fatty Liver; Female; Fructose; Galactose; Glucose; Humans; Infant; Liver Cirrhosis	1971
Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract. Lancet (London, England), 1974, Aug-03, Volume: 2, Issue:7875 Topics: Adolescent; Adult; Carbohydrate Metabolism, Inborn Errors; Cataract; Child; Child, Preschool; Erythrocytes; Female; Galactose; Humans; Infant; Infant, Newborn; Male; Maternal-Fetal Exchange; Nucleotidyltransferases; Phosphotransferases; Pregnancy; Pregnancy Complications	1974
Deficiency of erythrocyte galactokinase in a patient with galactose diabetes. Lancet (London, England), 1965, Oct-02, Volume: 2, Issue:7414 Topics: Adolescent; Adult; Carbohydrate Metabolism, Inborn Errors; Cataract; Child; Diabetes Mellitus; Galactose; Humans; Male; Middle Aged; Neurofibromatosis 1; Phosphotransferases	1965
Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. Lancet (London, England), 1970, Jul-04, Volume: 2, Issue:7662 Topics: Acidosis; Aldehyde-Lyases; Blood Glucose; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Fasting; Female; Fructose; Galactose; Gluconeogenesis; Glucose Tolerance Test; Glycerol; Glycolysis; Humans; Hypoglycemia; Liver; Liver Glycogen; Phosphoric Monoester Hydrolases	1970
Generalized gangliosidosis: impaired cleavage of galactose from a mucopolysaccharide and a glycoprotien. Science (New York, N.Y.), 1969, Feb-28, Volume: 163, Issue:3870 Topics: Carbohydrate Metabolism, Inborn Errors; Galactose; Galactosidases; Glycoproteins; Glycosaminoglycans; Humans	1969
A reliable spot test for mucopolysaccharidoses. Clinical chemistry, 1971, Volume: 17, Issue:9 Topics: Adult; Bone Diseases, Developmental; Carbazoles; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Ion Exchange; Coloring Agents; Corneal Opacity; Dialysis; Dwarfism; Female; Galactose; Glucosamine; Glycosaminoglycans; Hexosamines; Humans; Indicators and Reagents; Infant; Intellectual Disability; Male; Methods; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Onium Compounds; Paper; Peptide Hydrolases; Phenols; Retinitis Pigmentosa; Sulfuric Acids; Toluene; Uronic Acids	1971
G M1 -gangliosidosis (Type II): studies on a fibroblast cell strain. Biochemical medicine, 1970, Volume: 4, Issue:3 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Carbon Isotopes; Child, Preschool; Chromatography; Chromatography, Gel; Chromatography, Thin Layer; Fibroblasts; Galactose; Galactosidases; Gangliosides; Glucosamine; Glycolipids; Glycosaminoglycans; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Skin	1970
The determination of galactose in urinary acidic glycosaminoglycans as a measure of keratan sulfate-like substances in urine. Biochemical medicine, 1972, Volume: 6, Issue:3 Topics: Achondroplasia; Adolescent; Adult; Aged; Aging; Arthritis, Rheumatoid; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Ion Exchange; Chromatography, Thin Layer; Colorimetry; Dermatomyositis; Female; Galactose; Glucosamine; Glycosaminoglycans; Humans; Hyaluronoglucosaminidase; Infant; Infant, Newborn; Intellectual Disability; Lipid Metabolism, Inborn Errors; Male; Methods; Middle Aged; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa; Sulfuric Acids	1972
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proceedings of the National Academy of Sciences of the United States of America, 1973, Volume: 70, Issue:7 Topics: Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Fibroblasts; Galactose; Glucosamine; Glucuronidase; Glycosaminoglycans; Glycosides; Humans; Iduronic Acid; Intellectual Disability; Mannose; Mucopolysaccharidosis II; Retinitis Pigmentosa; Skin; Sulfatases; Sulfur Isotopes; Sulfuric Acids; Tritium; Uronic Acids	1973
Urinary metabolic screening in children with psycho-neurological diseases. Evaluation of different screening tests. Upsala journal of medical sciences. Supplement, 1974, Volume: 15 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Paper; Electrophoresis, Paper; Evaluation Studies as Topic; Female; Galactose; Glycosaminoglycans; Humans; Indicators and Reagents; Infant; Infant, Newborn; Intellectual Disability; Male; Mass Screening; Methods; Reagent Strips; Renal Tubular Transport, Inborn Errors	1974
Identification and quantitation of keratan sulfate in urine. Clinica chimica acta; international journal of clinical chemistry, 1974, Volume: 52, Issue:2 Topics: Adult; Athetosis; Carbohydrate Metabolism, Inborn Errors; Child; Chromatography, Ion Exchange; Chromatography, Thin Layer; Evaluation Studies as Topic; Fucose; Galactose; Glucosamine; Glycosaminoglycans; Humans; Methods; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa	1974
Isolation and characterization of keratan sulfates from the liver of a patient with GM1-gangliosidosis type I. Biochimica et biophysica acta, 1970, Sep-22, Volume: 215, Issue:3 Topics: Animals; Autopsy; Carbohydrate Metabolism, Inborn Errors; Cattle; Chromatography, Gel; Chromatography, Ion Exchange; Chromatography, Paper; Chromatography, Thin Layer; Galactose; Galactosidases; Gangliosides; Glucosamine; Glycosaminoglycans; Glycoside Hydrolases; Humans; Keratins; Liver; Lysosomes; Periodic Acid; Pyridinium Compounds; Solubility; Sulfuric Acids	1970
[Hereditary defects of fructose and galactose metabolism]. Monatsschrift fur Kinderheilkunde, 1973, Volume: 121, Issue:5 Topics: Adult; Biopsy; Carbohydrate Metabolism, Inborn Errors; Female; Fructose; Fructose-Bisphosphatase; Fructose-Bisphosphate Aldolase; Galactose; Galactosemias; Genetics, Medical; Humans; Infant; Infant, Newborn; Isomerases; Liver; Male; Pedigree; Phosphotransferases; Uridine Diphosphate Sugars	1973
Some inferences from galactokinase deficiency. Pediatrics, 1974, Volume: 53, Issue:3 Topics: Carbohydrate Metabolism, Inborn Errors; Cataract; Dietary Carbohydrates; Diseases in Twins; Female; Galactose; Humans; Infant; Phosphotransferases	1974
Galactokinase deficiency in twins: clinical and biochemical studies. Pediatrics, 1974, Volume: 53, Issue:3 Topics: Carbohydrate Metabolism, Inborn Errors; Carbon Radioisotopes; Cataract; Diet Therapy; Dietary Carbohydrates; Diseases in Twins; Erythrocytes; Female; Galactose; Galactosemias; Humans; Infant; Infant Food; Nucleotidyltransferases; Oxidative Phosphorylation; Phosphotransferases	1974
The structures of oligosaccharides accumulating in the liver of G-M1-gangliosidosis, type I. The Journal of biological chemistry, 1974, Mar-25, Volume: 249, Issue:6 Topics: Acetamides; Carbohydrate Metabolism, Inborn Errors; Chromatography, Gas; Galactose; Gangliosides; Glucosamine; Glycoside Hydrolases; Hexosamines; Hexoses; Humans; Isotope Labeling; Liver; Magnetic Resonance Spectroscopy; Mannose; Mass Spectrometry; Methylation; Molecular Weight; Oligosaccharides; Periodic Acid; Spectrophotometry, Infrared; Stereoisomerism; Tritium	1974
An ultrastructural study of fructose-induced hepatic cell injury. Comparison of human and experimental lesions. Virchows Archiv. B, Cell pathology, 1972, Volume: 10, Issue:3 Topics: Animals; Biopsy; Carbohydrate Metabolism, Inborn Errors; Chemical and Drug Induced Liver Injury; Disease Models, Animal; Endoplasmic Reticulum; Fructose; Galactose; Glucose; Glycogen; Golgi Apparatus; Humans; Liver; Liver Diseases; Male; Mannitol; Mannose; Microscopy; Microscopy, Electron; Rats; Rats, Inbred Strains; Ribosomes	1972
Brain glycoproteins in GM1-gangliosidosis: isolation and carbohydrate composition of glycopeptides. FEBS letters, 1973, Aug-15, Volume: 34, Issue:2 Topics: Brain; Brain Chemistry; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Female; Fucose; Galactose; Gangliosides; Glycopeptides; Glycoproteins; Hexosamines; Humans; Infant; Leukodystrophy, Globoid Cell; Mannose; Neuraminic Acids	1973
Glucose-galactose malabsorption in an adult: perfusion studies of sugar, electrolyte, and water transport. The American journal of digestive diseases, 1973, Volume: 18, Issue:12 Topics: Adult; Bicarbonates; Biological Transport; Blood Glucose; Carbohydrate Metabolism, Inborn Errors; Chlorides; Diarrhea; Dietary Carbohydrates; Feces; Fructose; Galactose; Glucose; Glycosuria; Humans; Hydrogen-Ion Concentration; Intestinal Absorption; Intestinal Mucosa; Jejunum; Lactates; Malabsorption Syndromes; Male; Perfusion; Potassium; Sodium; Water	1973
[Chronic diarrhea caused by carbohydrate intolerance (diarrhea caused by deficiency of disaccharidase and by disorders of aldose transfer]. Pediatria, 1974, Volume: 23, Issue:3 Topics: Carbohydrate Epimerases; Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Chronic Disease; Diarrhea; Diarrhea, Infantile; Disaccharidases; Fructose; Fructose-Bisphosphate Aldolase; Galactose; Glucose; Glucosyltransferases; Humans; Infant; Infant, Newborn; Lactose Intolerance; Metabolic Diseases; Polysaccharides; Sucrase	1974
A two-dimensional thin-layer chromatographic method for screening carbohydrate anomalies. Journal of chromatography, 1974, Jul-31, Volume: 95, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Chromatography, Thin Layer; Fructose; Galactose; Glucose; Hexoses; Humans; Mass Screening; Methods; Oligosaccharides; Solvents	1974
Mannosidosis: isolation of oligosaccharide storage material from brain. The Journal of pediatrics, 1969, Volume: 75, Issue:3 Topics: Amino Acids; Brain Chemistry; Carbohydrate Metabolism, Inborn Errors; Chromatography; Chromatography, Gel; Diagnosis, Differential; Fucose; Galactose; Glucosamine; Glucose; Glycoside Hydrolases; Hexosamines; Humans; Liver; Mannose; Monosaccharides; Mucopolysaccharidoses; Neuraminic Acids; Oligosaccharides; Uronic Acids	1969
Quantitative radioautography of sugar transport in intestinal biopsies from normal humans and a patient with glucose-galactose malabsorption. The Journal of clinical investigation, 1972, Volume: 51, Issue:2 Topics: Adult; Autoradiography; Biopsy; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Galactose; Glucose; Humans; Infant; Intestinal Mucosa; Intestine, Small; Malabsorption Syndromes; Membranes; Methods; Microscopy, Electron; Phlorhizin; Tritium	1972
[Micromethods for the determination of galactose and fructose in blood]. Das Medizinische Laboratorium, 1972, Volume: 25, Issue:2 Topics: Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Diabetes Mellitus; Diagnosis, Differential; Fructose; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Methods	1972
Cataracts and galactokinase deficiency. The New England journal of medicine, 1972, Jul-27, Volume: 287, Issue:4 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Cataract; Galactose; Humans; Infant; Phosphotransferases	1972
Galactokinase deficiency: clinical and biochemical findings in a new kindred. The Journal of pediatrics, 1972, Volume: 81, Issue:1 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Cataract; Erythrocytes; Female; Fibroblasts; Galactose; Humans; Male; Neurologic Manifestations; Nucleotidyltransferases; Pedigree; Phosphotransferases; Seizures; Skin	1972
[Preparation of a milk diet, free of lactose, galactose and glucose]. Das Deutsche Gesundheitswesen, 1972, Feb-17, Volume: 27, Issue:7 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Diet; Galactose; Glucose; Humans; Lactose; Milk; Saccharomyces	1972
Hereditary galactokinase deficiency. Archives of disease in childhood, 1971, Volume: 46, Issue:248 Topics: Animals; Blood Glucose; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Cataract; Diet; Erythrocytes; Galactose; Glycosuria; Hexosamines; Humans; Hyperbilirubinemia, Hereditary; Infant; Male; Milk; Phosphotransferases	1971
[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
[Oligosaccharide excretion in a case of GM 2 gangliosidosis due to total N-acetylhexosaminidase deficiency]. Clinica chimica acta; international journal of clinical chemistry, 1971, Volume: 33, Issue:2 Topics: Acetates; Carbohydrate Metabolism, Inborn Errors; Chemical Precipitation; Chromatography; Chromatography, Ion Exchange; Chromatography, Paper; Colorimetry; Ethanol; Fucose; Galactose; Gangliosides; Glucosamine; Glucose; Glycoproteins; Glycoside Hydrolases; Hexosamines; Hexosaminidases; Hexoses; Humans; Infant; Lipid Metabolism, Inborn Errors; Lipidoses; Mannose; Monosaccharides; Neuraminic Acids; Oligosaccharides; Uronic Acids	1971
A fluorometric method for the assay of galactose-1-phosphate in red blood cells. The Journal of laboratory and clinical medicine, 1971, Volume: 78, Issue:6 Topics: Alcohol Oxidoreductases; Alkaline Phosphatase; Carbohydrate Metabolism, Inborn Errors; Diagnosis, Differential; Erythrocytes; Fluorometry; Galactose; Galactosemias; Hexosephosphates; Humans; Methods; Nucleotidyltransferases; Phosphotransferases; Spectrophotometry	1971
Branching enzyme-deficiency glycogenosis: studies in therapy. Archives of disease in childhood, 1968, Volume: 43, Issue:229 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Diet Therapy; Female; Fructose; Galactose; Glucagon; Glucose Tolerance Test; Glucosidases; Glycogen; Glycogen Storage Disease; Glycoside Hydrolases; Humans; Infant; Leukocytes; Liver Glycogen; Male; Zinc	1968
Diazoxide in von Gierke's disease. Archives of disease in childhood, 1968, Volume: 43, Issue:229 Topics: Animals; Blood Glucose; Carbohydrate Metabolism, Inborn Errors; Child; Diazoxide; Dogs; Galactose; Glucose; Glucose Tolerance Test; Glycogen Storage Disease; Glycogen Storage Disease Type I; Hirsutism; Humans; Infant; Liver Glycogen; Male; Rats	1968
[Intermediate metabolism of carbohydrates. New knowledge and its medical significance]. Hippokrates, 1967, May-15, Volume: 38, Issue:9 Topics: Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Enzymes; Fructose; Galactose; Glycogen; Glycogen Storage Disease; Hormones; Humans	1967
[Morphological and histochemical studies of the galactose cataract of the albino rat]. Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. Albrecht von Graefe's archive for clinical and experimental ophthalmology, 1965, Jul-15, Volume: 168, Issue:4 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Cataract; Galactose; Humans; Infant, Newborn; Infant, Newborn, Diseases; Microscopy; Oxidoreductases; Proteins; Rats	1965
Glucose-galactose malabsorption. A clinical study of 6 cases. Acta paediatrica Scandinavica, 1969 Topics: Adult; Birth Weight; Blood Glucose; Blood Proteins; Carbohydrate Metabolism, Inborn Errors; Chromatography, Paper; Diarrhea, Infantile; Disaccharides; Electrolytes; Female; Fever; Galactose; Galactosemias; Glucose Tolerance Test; Glycosuria; Hemoglobins; Humans; Infant; Infant, Newborn; Intestinal Absorption; Malabsorption Syndromes; Male	1969
Inability of galactose to mobilize insulin in galactoknase-deficient individuals. Diabetologia, 1969, Volume: 5, Issue:3 Topics: Adult; Blood Glucose; Carbohydrate Metabolism, Inborn Errors; Galactose; Humans; Insulin; Insulin Secretion; Nucleotidyltransferases; Radioimmunoassay	1969
[Carbohydrate metabolism anomalies; galactose metabolism]. Monatsschrift fur Kinderheilkunde, 1969, Volume: 117, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Cataract; Clinical Enzyme Tests; Galactose; Galactosidases; Humans; Liver Cirrhosis; Malabsorption Syndromes	1969
[Clinical and morphological findings in during galactosemia]. Monatsschrift fur Kinderheilkunde, 1969, Volume: 117, Issue:1 Topics: Autopsy; Biopsy; Carbohydrate Metabolism, Inborn Errors; Diagnosis, Differential; Diet Therapy; Erythroblastosis, Fetal; Female; Galactose; Galactosemias; Heterozygote; Homozygote; Humans; Infant; Liver Cirrhosis, Biliary; Liver Regeneration; Male; Nucleotidyltransferases; Pregnancy	1969
Diagnostic problems in glucose-galactose malabsorption. A case report. Acta paediatrica Scandinavica, 1970, Volume: 59, Issue:2 Topics: Blood Glucose; Body Weight; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Diarrhea; Diet Therapy; Dietary Carbohydrates; Female; Fructose; Galactose; Glucose; Glucose Tolerance Test; Growth; Humans; Infant; Infant, Newborn; Malabsorption Syndromes	1970
Glucose-galactose malabsorption. Studies on the intermediate carbohydrate metabolism. Acta paediatrica Scandinavica, 1970, Volume: 59, Issue:1 Topics: Age Factors; Blood Chemical Analysis; Blood Glucose; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Cystic Fibrosis; Female; Fructose; Galactose; Glucose; Glucose Tolerance Test; Hexoses; Humans; Infant; Male	1970
Glucose-galactose malabsorption. A study on the transfer of glucose across the red cell membrane. Scandinavian journal of clinical and laboratory investigation, 1970, Volume: 25, Issue:2 Topics: Biological Transport, Active; Carbohydrate Metabolism, Inborn Errors; Cell Membrane; Erythrocytes; Female; Galactose; Glucose; Humans; Infant; Male; Spectrophotometry	1970
An evaluation of galactosuria. The Journal of pediatrics, 1970, Volume: 77, Issue:4 Topics: Adolescent; Adult; Animals; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Child; Chromatography; Diet; Dietary Carbohydrates; Galactose; Humans; Intellectual Disability; Methods; Middle Aged; Milk; Nucleotidyltransferases	1970
[Pharmacokinetic investigations in disaccharide intolerance]. Zeitschrift fur Kinderheilkunde, 1970, Volume: 108, Issue:3 Topics: Carbohydrate Metabolism, Inborn Errors; Disaccharides; Galactose; Galactosidases; Glucose; Humans; Intestinal Absorption; Intestine, Small; Kinetics; Lactose; Lactose Intolerance; Mathematics	1970
[Glucose-galactose malabsorption]. Padiatrie und Grenzgebiete, 1970, Volume: 9, Issue:4 Topics: Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Diet Therapy; Galactose; Glucose; Humans; Malabsorption Syndromes	1970
[Current classification of fructose and galactose intolerance]. Minerva pediatrica, 1970, Jun-16, Volume: 22, Issue:24 Topics: Carbohydrate Metabolism, Inborn Errors; Fructose; Galactose; Humans	1970
Fructose intolerance with normal liver aldolase. Helvetica paediatrica acta, 1970, Volume: 25, Issue:6 Topics: Acidosis; Biopsy; Carbohydrate Metabolism, Inborn Errors; Fructose; Fructose-Bisphosphate Aldolase; Galactose; Hepatomegaly; Humans; Hypoglycemia; Infant; Liver; Male	1970
Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred. The American journal of medicine, 1971, Volume: 50, Issue:3 Topics: Adult; Aged; Carbohydrate Metabolism, Inborn Errors; Cataract; Child; Erythrocytes; Female; Galactose; Galactosemias; Genes, Recessive; Humans; Male; Pedigree; Phosphotransferases; United States	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
[Galactose intolerance in a newborn infant]. Kinderarztliche Praxis, 1967, Volume: 35, Issue:6 Topics: Carbohydrate Metabolism, Inborn Errors; Diet Therapy; Exchange Transfusion, Whole Blood; Galactose; Humans; Infant, Newborn; Male; Nucleotidyltransferases	1967
[Studies on heteroxygotic carriers of fructose intolerance]. Klinische Wochenschrift, 1968, May-01, Volume: 46, Issue:9 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Female; Fructose; Galactose; Humans; Injections, Intravenous; Intestinal Absorption; Male	1968
[Carbohydrate composition of plant nutrients as the basis for the diet therapy of hereditary metabolic disorders]. Klinische Wochenschrift, 1968, May-01, Volume: 46, Issue:9 Topics: Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Chromatography, Paper; Diet Therapy; Food Analysis; Fruit; Galactose; Galactosemias; Humans; Lactose Intolerance; Malabsorption Syndromes; Plants, Edible; Sucrose; Vegetables	1968
Glucose-galactose malabsorption. A study with biopsy of the small intestinal mucosa. Acta paediatrica Scandinavica, 1968, Volume: 57, Issue:4 Topics: Adolescent; Adult; Alanine; Biological Transport; Biopsy; Carbohydrate Metabolism, Inborn Errors; Carbon Isotopes; Child; Child, Preschool; Culture Techniques; Female; Galactose; Glucose; Humans; Infant; Intestinal Absorption; Intestinal Mucosa; Intestine, Small; Malabsorption Syndromes; Mannitol; Ouabain; Phlorhizin; Sodium	1968
Detection of heterozygotes for galactokinase deficiency in a human population. Biochemical genetics, 1968, Volume: 2, Issue:3 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Carbon Isotopes; Child; Child, Preschool; Culture Techniques; Erythrocytes; Female; Fibroblasts; Freezing; Galactose; Heterozygote; Humans; Hydrogen-Ion Concentration; Male; Methods; Pedigree; Phosphotransferases; Time Factors	1968
[Malabsorption in hereditary disorders of the carbohydrate and amino acid metabolism]. Acta paediatrica Academiae Scientiarum Hungaricae, 1969, Volume: 10, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Carbohydrate Metabolism, Inborn Errors; Cystinuria; Galactose; Glucose; Hartnup Disease; Humans; Malabsorption Syndromes; Phenylketonurias; Rats	1969
Disaccharide intolerance in the aetiology of chronic and-or recurrent diarrhoea in young children. The Indian journal of medical research, 1969, Volume: 57, Issue:4 Topics: Carbohydrate Metabolism, Inborn Errors; Celiac Disease; Child, Preschool; Chronic Disease; Diarrhea, Infantile; Disaccharides; Feces; Female; Galactose; Glucose; Glucose Tolerance Test; Humans; Hydrogen-Ion Concentration; Infant; Infant, Newborn; Infant, Newborn, Diseases; Lactose Intolerance; Male; Maltose; Sucrose; Xylose	1969
Infant malnutrition caused by sugar intolerance. Annales paediatriae Fenniae, 1965, Volume: 11, Issue:2 Topics: Blood Glucose; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Feces; Female; Fructose; Galactose; Glucose; Humans; Infant; Infant Nutrition Disorders; Lactates; Lactose; Male; Maltose	1965
Glucose-galactose malabsorption. Report of a case with autoradiographic studies of a mucosal biopsy. The New England journal of medicine, 1966, Feb-10, Volume: 274, Issue:6 Topics: Autoradiography; Biopsy; Carbohydrate Metabolism, Inborn Errors; Diarrhea, Infantile; Diet Therapy; Dietary Carbohydrates; Duodenum; Female; Galactose; Glucose; Humans; Infant, Newborn; Intestinal Mucosa; Malabsorption Syndromes; Mucous Membrane	1966
Diets in disaccharidase deficiency and defective monosaccharide absorption. Journal of the American Dietetic Association, 1966, Volume: 48, Issue:4 Topics: Carbohydrate Metabolism, Inborn Errors; Diet Therapy; Dietary Carbohydrates; Disaccharides; Galactose; Glucose; Glycoside Hydrolases; Humans; Lactose; Malabsorption Syndromes; Monosaccharides	1966
A case of behavior disorder with impaired carbohydrate metabolism. Scandinavian journal of clinical and laboratory investigation, 1966, Volume: 18, Issue:1 Topics: Adolescent; Blood Glucose; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Diagnosis, Differential; Female; Galactose; Humans; Hypoglycemia; Mental Disorders	1966
Glucose-galactose malabsorption. The Journal of pediatrics, 1966, Volume: 69, Issue:2 Topics: Carbohydrate Metabolism, Inborn Errors; Dehydration; Diarrhea; Female; Fructose; Galactose; Glucose; Glucose Tolerance Test; Humans; Infant, Newborn; Infant, Newborn, Diseases	1966
Glucose-galactose malabsorption. The New England journal of medicine, 1966, Feb-10, Volume: 274, Issue:6 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Food Hypersensitivity; Galactose; Glucose; Humans; Infant, Newborn; Lactose; Malabsorption Syndromes; Milk; Renal Tubular Transport, Inborn Errors	1966
TREATMENT OF MALABSORPTION OF CARBOHYDRATES. Modern treatment, 1965, Volume: 2 Topics: Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Child; Diet; Diet Therapy; Hexoses; Humans; Infant	1965
SIX CASES OF LACTOSE INTOLERANCE. LACTOSE INTOLERANCE AND COELIAC DISEASE. DISACCHARIDASES ACTIVITY IN THE INTESTINAL MUCOSA ASCERTAINED WITH THE PERORAL BIOPSY. Annales paediatrici. International review of pediatrics, 1965, Volume: 204 Topics: Biopsy; Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Celiac Disease; Child; Disaccharidases; Disaccharides; Hexoses; Humans; Hyperglycemia; Intestinal Mucosa; Lactose; Lactose Intolerance	1965
[Determination of total glycoproteins in urine and serum from normal children and from a child with a sialuria (author's transl)]. Clinica chimica acta; international journal of clinical chemistry, 1975, Jan-06, Volume: 58, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Female; Glycoproteins; Hexoses; Humans; Infant; Male; Sialic Acids	1975
Hurler's and Sanfilippo's variants of mucopolysaccharidosis. Cerebral pathology and lipid chemistry. Archives of pathology, 1971, Volume: 91, Issue:5 Topics: Amides; Brain; Brain Chemistry; Carbohydrate Metabolism, Inborn Errors; Child; Chromatography, Thin Layer; Female; Gangliosides; Glycosaminoglycans; Hexoses; Histocytochemistry; Humans; Intellectual Disability; Lipids; Male; Mucopolysaccharidosis I; Nerve Degeneration	1971
Hurler's syndrome, an -L-iduronidase deficiency. Biochemical and biophysical research communications, 1972, May-26, Volume: 47, Issue:4 Topics: Amnion; Carbohydrate Metabolism, Inborn Errors; Diagnosis, Differential; Female; Fibroblasts; Galactosidases; Genes; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Hexoses; Humans; Intellectual Disability; Liver; Lysosomes; Mucopolysaccharidosis I; Phenols; Retinitis Pigmentosa; Skin; Uronic Acids	1972
The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase. Proceedings of the National Academy of Sciences of the United States of America, 1972, Volume: 69, Issue:8 Topics: Carbohydrate Metabolism, Inborn Errors; Cell Fractionation; Chromatography, Gas; Corneal Opacity; Fibroblasts; Glycosaminoglycans; Glycoside Hydrolases; Hexoses; Humans; Lysosomes; Methods; Mucopolysaccharidosis I; Retinitis Pigmentosa; Syndrome; Uronic Acids	1972
The heparitin sulfates (heparan sulfates). Carbohydrate research, 1973, Volume: 29, Issue:1 Topics: Amyloidosis; Animals; Aorta; Carbohydrate Metabolism, Inborn Errors; Cattle; Chromatography, Ion Exchange; Dialysis; Electrophoresis; Galactosamine; Glucuronates; Glycosaminoglycans; Heparitin Sulfate; Hexosamines; Hexoses; Humans; Intellectual Disability; Intestines; Liver; Lung; Methods; Molecular Weight; Optical Rotation; Proteins; Uronic Acids	1973
Microchemical analysis of human tibial growth cartilage in various forms of dwarfism. Acta endocrinologica, 1972, Volume: 69, Issue:4 Topics: Achondroplasia; Adolescent; Biopsy; Carbohydrate Metabolism, Inborn Errors; Cartilage; Child; Chondroitin; Collagen; Dwarfism; Dwarfism, Pituitary; Female; Galactosamine; Glycosaminoglycans; Growth Disorders; Hexosamines; Hexoses; Histocytochemistry; Humans; Hydroxyproline; Hypophosphatemia, Familial; Male; Myxedema; Proteins; Pyridinium Compounds; Tibia; Turner Syndrome	1972
Some aspects of hypoglycemia in pediatrics. Israel journal of medical sciences, 1972, Volume: 8, Issue:6 Topics: Acids; Age Factors; Brain Chemistry; Carbohydrate Metabolism, Inborn Errors; Glutamine; Glycogen Storage Disease; Hexoses; Humans; Hypoglycemia; Infant, Newborn; Infant, Newborn, Diseases; Injections, Intravenous; Insulin; Mannose	1972
A mannose-containing trisaccharide isolated from urines of three patients with mannosidosis. The Journal of biological chemistry, 1973, Sep-10, Volume: 248, Issue:17 Topics: Acetates; Carbohydrate Metabolism, Inborn Errors; Chemical Phenomena; Chemistry; Chromatography, Gas; Chromatography, Gel; Chromatography, Paper; Chromium; Concanavalin A; Deuterium; Hexosamines; Hexoses; Humans; Mannose; Mass Spectrometry; Methyl Ethers; Methylation; Nitrogen; Oligosaccharides; Oxidation-Reduction; Oxides; Sugar Alcohols	1973
Biochemical and fine structural studies on brain and liver biopsies in aspartylglucosaminuria. Neurology, 1971, Volume: 21, Issue:12 Topics: Acetamides; Adult; Amino Acids; Aspartic Acid; Biopsy; Brain; Brain Chemistry; Carbohydrate Metabolism, Inborn Errors; Chromatography; Female; Glycopeptides; Glycoside Hydrolases; Glycosides; Glycosuria; Hexosaminidases; Hexoses; Histocytochemistry; Humans; Liver; Lysosomes; Male; Microscopy, Electron; Neuroglia; Neurons	1971