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1Infusionsbedingtes Nieren- und Leberversagen bei undiagnostizierter hereditärer Fructose-Intoleranz*
المؤلفون: M Holm-Hadulla, L Wille, R Gitzelmann, B Steinmann, D E Müller-Wiefel, K Schärer
المصدر: DMW - Deutsche Medizinische Wochenschrift. 108:985-989
مصطلحات موضوعية: Kidney, medicine.medical_specialty, business.industry, Hereditary fructose intolerance, Liver failure, Fructose, General Medicine, Carbohydrate metabolism, medicine.disease, Recurrent abdominal pain, Gastroenterology, chemistry.chemical_compound, medicine.anatomical_structure, chemistry, Liver tissue, Internal medicine, medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::22b1a90d00e9e1bae0faf9dbc42cbbcf
https://doi.org/10.1055/s-2008-1069680 -
2
المؤلفون: V. Kolosha, C. de Cespedes, Dwight Stambolian, William R. Skach, N. Buist, Rafael Trejos, K. Huang, T. Casco, D. Ledee, T. Tedesco, E. Anoia, Manuel Saborío, O. Mitelmann, L. Shih, R. Gitzelmann
المصدر: Human Mutation. 15:447-453
مصطلحات موضوعية: Genetics, education.field_of_study, Mutant, Population, Galactosemia, Biology, medicine.disease, Galactokinase, Galactokinase deficiency, medicine, Mutation testing, Galactokinase activity, education, Gene, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::55369c63e9e2b9e4990e6bc0358bb096
https://doi.org/10.1002/(sici)1098-1004(200005)15:5<447::aid-humu6>3.0.co;2-m -
3
المؤلفون: Alexei Savov, Albena Jordanova, Vanya Nedkova, Lidia Aneva, Peter Yanakiev, Arseni Markov, Luba Kalaydjieva, Joachim Hallmayer, Ivo Kremensky, Nils U. Bosshard, Ivailo Tournev, Suna Onengut, Brigitta Radeva, Anna Pérez-Lezaun, Dora Angelicheva, R Gitzelmann, Danielle E. Dye
المصدر: The American Journal of Human Genetics. 65:1299-1307
مصطلحات موضوعية: Galactosemias, Male, Roma, Adolescent, Molecular Sequence Data, Population, Locus (genetics), Biology, Roma Gypsies, Polymerase Chain Reaction, Protein Structure, Secondary, Galactokinase, Neonatal Screening, Galactokinase deficiency, Gene mapping, Genetics, medicine, Humans, Genetics(clinical), Amino Acid Sequence, Genetic Testing, Bulgaria, education, Genetics (clinical), Mass screening, DNA Primers, education.field_of_study, Romania, Founder population, Haplotype, Infant, Newborn, Articles, Physical Chromosome Mapping, medicine.disease, Pedigree, Galactosemia, cataracts, Mutation, GK1 gene, Female, Lod Score, Chromosomes, Human, Pair 17, Founder effect
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4
المؤلفون: M. Rittmann, J. R. Bayerl, I. Steegmanns, R. Gitzelmann
المصدر: DMW - Deutsche Medizinische Wochenschrift. 115:539-541
مصطلحات موضوعية: business.industry, Medicine, General Medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f0b9d43048d5870d375c1f212810a6b0
https://doi.org/10.1055/s-2008-1065044 -
5
المؤلفون: R. Gitzelmann, Leif Groop, Albert Aynsley-Green, Frank Q. Nuttall, Nils U. Bosshard, Marju Orho, Peter Blümel, Neil R. M. Buist, Mary C. Gannon
المصدر: Journal of Clinical Investigation. 102:507-515
مصطلحات موضوعية: Male, medicine.medical_specialty, DNA, Complementary, Genetic Linkage, RNA Splicing, Blotting, Western, DNA Mutational Analysis, Hypoglycemia, Biology, Eating, chemistry.chemical_compound, Internal medicine, medicine, Animals, Humans, Point Mutation, Glycogen storage disease type 0, Glycogen storage disease, Missense mutation, Glycogen synthase, Polymorphism, Single-Stranded Conformational, Chromosomes, Human, Pair 12, Glycogen, Point mutation, Exons, General Medicine, Glycogen Storage Disease, medicine.disease, Ketotic hypoglycemia, Molecular biology, Introns, Pedigree, Glycogen Synthase, Phenotype, Endocrinology, Liver, chemistry, Child, Preschool, COS Cells, Mutagenesis, Site-Directed, biology.protein, Female, Polymorphism, Restriction Fragment Length, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::922f3e9fe0456e1af8a2d2ef282d5302
https://doi.org/10.1172/jci2890 -
6
المؤلفون: R. Gitzelmann, Nils U. Bosshard, H J Sommerlade, Max A. Spycher, K von Figura, J. Briner, M Hubler, S. Arnold
المصدر: Veterinary Pathology. 33:1-13
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, 040301 veterinary sciences, Transferases (Other Substituted Phosphate Groups), Abnormal facial features, Biology, Cat Diseases, Kidney, Bone and Bones, 0403 veterinary science, 03 medical and health sciences, Animal model, Mucolipidoses, Leukocytes, Lysosomal storage disease, medicine, Animals, Gait, Aorta, Glycosaminoglycans, Skin, Uridine Diphosphate N-Acetylglucosamine, CATS, General Veterinary, Mucolipidosis, Retinal Degeneration, 04 agricultural and veterinary sciences, Anatomy, medicine.disease, Sciatic Nerve, 3. Good health, Radiography, Disease Models, Animal, 030104 developmental biology, Liver, Cats, Body Constitution, Female, I-cell disease, Abnormality
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::018e8a969515fa6299e575cd61bdda87
https://doi.org/10.1177/030098589603300101 -
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المؤلفون: R. Gitzelmann
المصدر: European Journal of Pediatrics. 154:S45-S49
مصطلحات موضوعية: Galactosemias, medicine.medical_specialty, Biology, Dephosphorylation, Glycogen phosphorylase, chemistry.chemical_compound, Internal medicine, medicine, Humans, Phosphorylation, Lactose, chemistry.chemical_classification, Futile cycle, Galactosephosphates, Galactosemia, Infant, Newborn, Galactose, medicine.disease, Glucose, Endocrinology, Enzyme, Biochemistry, chemistry, Pediatrics, Perinatology and Child Health, Phosphoglucomutase
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8Defective neutrophil and monocyte functions in glycogen storage disease type Ib: A literature review
المؤلفون: Nils U. Bosshard, R. Gitzelmann
المصدر: European Journal of Pediatrics. 152:33-38
مصطلحات موضوعية: medicine.medical_specialty, Neutropenia, Phagocyte, Neutrophils, business.industry, Monocyte, Motility, Glycogen Storage Disease Type I, Lithium, Phagocytic dysfunction, Monocytes, Transport protein, medicine.anatomical_structure, Endocrinology, In vivo, Internal medicine, Pediatrics, Perinatology and Child Health, Immunology, Glycogen Storage Disease Type Ib, Glucose-6-Phosphatase, Humans, Medicine, Respiratory system, business, Respiratory Burst
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9
المؤلفون: U. V. Arbenz, U. Willi, R. Gitzelmann
المصدر: European Journal of Pediatrics. 151:564-568
مصطلحات موضوعية: Galactosemias, Umbilical Veins, medicine.medical_specialty, Encephalopathy, Vena Cava, Inferior, Internal medicine, medicine, Humans, Abnormalities, Multiple, Hepatic encephalopathy, Ultrasonography, Newborn screening, Vascular disease, business.industry, medicine.disease, Surgery, Portal System, Child, Preschool, Hepatic Encephalopathy, Pediatrics, Perinatology and Child Health, cardiovascular system, Cardiology, Female, Complication, Splanchnic, business, Ductus venosus, Venous return curve
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10
المؤلفون: A Petersen, B Steinmann, R Gitzelmann
المصدر: Enzyme. 46:319-323
مصطلحات موضوعية: Adult, medicine.medical_specialty, Erythrocytes, Fructose, Carbohydrate metabolism, Biochemistry, chemistry.chemical_compound, Essential fructosuria, Reference Values, Internal medicine, Diabetes mellitus, medicine, Humans, Glycated Hemoglobin, Fructosephosphates, medicine.disease, Red blood cell, Endocrinology, medicine.anatomical_structure, chemistry, Fructolysis, Sorbitol, Biomarkers, Carbohydrate Metabolism, Inborn Errors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9bf4e97b6945edffdfdd3d40812d867
https://doi.org/10.1159/000468811