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1
المؤلفون: Maximilian Zeyda, Chike B. Item, Susanne Greber-Platzer, Azadeh Hojreh, Andrea Schanzer, Charlotte de Gier, Ahmed Ba-Ssalamah, Isabella Valent, Julia Lischka
المصدر: International Journal of Obesity (2005)
مصطلحات موضوعية: Male, Pediatric Obesity, Adolescent, Endocrinology, Diabetes and Metabolism, Medicine (miscellaneous), Inflammation, Procalcitonin, Article, Impaired glucose tolerance, Nonalcoholic fatty liver disease, Medicine, Humans, Prediabetes, Obesity, Child, Metabolic Syndrome, Nutrition and Dietetics, business.industry, medicine.disease, MicroRNAs, Immunology, Female, Liver function, medicine.symptom, Metabolic syndrome, business, Dyslipidemia
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2
المؤلفون: Azadeh Hojreh, Andrea Schanzer, Chike B. Item, Maximilian Zeyda, Ahmed Ba Ssalamah, Julia Lischka, Susanne Greber-Platzer
المصدر: Adipositas-Kongress 2021 – 37. Jahrestagung der Deutschen Adipositas-Gesellschaft e.V..
مصطلحات موضوعية: business.industry, medicine, Inflammation, Epigenetics, medicine.symptom, Metabolic disease, Bioinformatics, business, medicine.disease, Obesity
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3
المؤلفون: Susanne Greber-Platzer, Charlotte de Gier, Chike B. Item, Nina-Katharina Walleczek, Ahmed Ba Ssalamah, Ivana Jakober, Thomas F. Metz, Maximilian Zeyda, Andrea Schanzer, Julia Lischka, Azadeh Hojreh
المصدر: Pediatric Obesity
مصطلحات موضوعية: Male, non‐alcoholic fatty liver disease, 0301 basic medicine, medicine.medical_specialty, Adolescent, medicine.medical_treatment, pediatric obesity, Population, Branched-chain amino acid, branched‐chain amino acids, 030209 endocrinology & metabolism, Gastroenterology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Non-alcoholic Fatty Liver Disease, Internal medicine, Biopsy, medicine, Humans, Child, education, Original Research, education.field_of_study, 030109 nutrition & dietetics, Nutrition and Dietetics, medicine.diagnostic_test, business.industry, Health Policy, Insulin, Fatty liver, Public Health, Environmental and Occupational Health, metabolic score, medicine.disease, Magnetic Resonance Imaging, Obesity, Obesity, Morbid, Liver, chemistry, Pediatrics, Perinatology and Child Health, biomarker, Biomarker (medicine), Female, Steatosis, business, Amino Acids, Branched-Chain
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4
المصدر: Clinical Biochemistry. 66:100-102
مصطلحات موضوعية: 030213 general clinical medicine, Propionic Acidemia, GPX3, Guanine, Clinical Biochemistry, 030204 cardiovascular system & hematology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Ammonia, medicine, Humans, Hyperammonemia, Binding site, Propionic acidemia, Allele, Promoter Regions, Genetic, Glutathione Peroxidase, Binding Sites, Infant, Newborn, General Medicine, DNA Methylation, medicine.disease, Molecular biology, Demethylation, chemistry, CpG site, DNA methylation, Cytosine
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المؤلفون: Andrea Schanzer, Somayeh Farhadi, Vassiliki Konstantopoulou, Chike B. Item, Maximilian Zeyda, Susanne Greber-Platzer, Sharmane Escueta, Dorothea Möslinger, Thomas F. Metz
المصدر: Clinical Biochemistry. 50:159-161
مصطلحات موضوعية: Male, 0301 basic medicine, GPX3, Phenylketonurias, Clinical Biochemistry, Response element, Phenylalanine, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Hyperphenylalaninemia, medicine, Humans, Promoter Regions, Genetic, chemistry.chemical_classification, Glutathione Peroxidase, Chemistry, Glutathione peroxidase, Infant, Newborn, General Medicine, DNA Methylation, medicine.disease, Molecular biology, 030104 developmental biology, DNA methylation, Female, 030217 neurology & neurosurgery, Oxidative stress
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المصدر: Clinical biochemistry. 50(12)
مصطلحات موضوعية: 0301 basic medicine, Male, Phenylalanine hydroxylase, Phenylalanine, Clinical Biochemistry, Nucleic Acid Denaturation, Polymerase Chain Reaction, 03 medical and health sciences, chemistry.chemical_compound, Hyperphenylalaninemia, Phenylketonurias, medicine, Humans, Promoter Regions, Genetic, Alleles, biology, Infant, Newborn, Phenylalanine Hydroxylase, Promoter, General Medicine, Sequence Analysis, DNA, DNA Methylation, medicine.disease, Molecular biology, 030104 developmental biology, CpG site, chemistry, Biochemistry, Case-Control Studies, DNA methylation, biology.protein, CpG Islands, Female, 5' Untranslated Regions, Cytosine, DNA
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المؤلفون: Olaf Bodamer, Andreas Heitger, Chike B. Item, Markus G. Seidel, Edith Schober, Petra Zeitlhofer, Oskar A. Haas, Birgit Rami, Wolf Dietrich Huber
المصدر: European Journal of Endocrinology. 167:131-134
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, chemical and pharmacologic phenomena, Biology, medicine.disease_cause, Treg cell, Autoimmune Diseases, Autoimmunity, Endocrinology, X Chromosome Inactivation, Internal medicine, medicine, Genetic predisposition, Humans, CTLA-4 Antigen, Genetic Predisposition to Disease, Enteropathy, Skewed X-inactivation, Autoimmune disease, Genetics, FOXP3, Forkhead Transcription Factors, Genetic Diseases, X-Linked, General Medicine, Immune dysregulation, medicine.disease, Pedigree, Mutation, Immunology
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8
المؤلفون: Olaf Bodamer, Brian Fowler, Michael Freilinger, Adolf Mühl, Chike B. Item, Daniela Dunkler, Ines Lanator
المصدر: Journal of Developmental & Behavioral Pediatrics. 32:454-460
مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Methyl-CpG-Binding Protein 2, Population, Placebo-controlled study, Rett syndrome, Creatine, Placebo, Severity of Illness Index, law.invention, Young Adult, chemistry.chemical_compound, Double-Blind Method, Randomized controlled trial, Tandem Mass Spectrometry, law, Statistical significance, Internal medicine, Rett Syndrome, Developmental and Educational Psychology, Humans, Medicine, Child, education, education.field_of_study, Cross-Over Studies, business.industry, DNA Methylation, medicine.disease, Crossover study, Psychiatry and Mental health, chemistry, Child, Preschool, Dietary Supplements, Pediatrics, Perinatology and Child Health, Physical therapy, Female, business
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9
المؤلفون: Kurt R. Herkner, Arnold Pollak, Rene Ratschmann, Thomas F. Metz, Thomas P. Mechtler, Chike B. Item, Dorothea Möslinger, David C. Kasper, Vassiliki Konstantopoulou
المصدر: Wiener klinische Wochenschrift. 122:607-613
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Risk Assessment, Mass Spectrometry, Risk Factors, Epidemiology, Prevalence, medicine, Humans, Mass Screening, Congenital adrenal hyperplasia, Newborn screening, business.industry, Biotinidase deficiency, Galactosemia, Metabolic disorder, Infant, Newborn, General Medicine, medicine.disease, Congenital hypothyroidism, Dried blood spot, Government Programs, Austria, Female, business, Biomarkers, Metabolism, Inborn Errors
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المؤلفون: Gregor Heiduschka, Claudia Gedlicka, Chike B. Item, Markus Wögerbauer, Matthaeus Ch. Grasl, Boban M. Erovic, Dietmar Thurnher, Helga Martinek
المصدر: Journal of Surgical Oncology. 101:127-130
مصطلحات موضوعية: Mutation, Pathology, medicine.medical_specialty, endocrine system diseases, Adenoma, business.industry, General Medicine, medicine.disease, medicine.disease_cause, digestive system diseases, Malignant transformation, Parotid gland, Pleomorphic adenoma, stomatognathic diseases, Exon, Transformation (genetics), Carcinoma ex pleomorphic adenoma, medicine.anatomical_structure, Oncology, medicine, Surgery, business
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المؤلفون: Olaf Bodamer, Anil Jalan, Chike B. Item, Oliver Lichtarge, Ivana Mihalek, Julia Vodopiutz, Adolf Mühl
المصدر: Molecular Genetics and Metabolism. 91:379-383
مصطلحات موضوعية: Models, Molecular, Hawkinsinuria, Tyrosinemia, 5-Oxoproline, Protein Conformation, Endocrinology, Diabetes and Metabolism, Compound heterozygosity, 4-Hydroxyphenylpyruvate Dioxygenase, Polymerase Chain Reaction, Biochemistry, Endocrinology, Cyclohexenes, Genetics, medicine, Humans, Tyrosinemia type III, Allele, Molecular Biology, biology, Tyrosinemias, Chemistry, Genetic Carrier Screening, Infant, Active site, DNA, medicine.disease, Null allele, Amino Acids, Sulfur, Mutation (genetic algorithm), biology.protein
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المؤلفون: Klaus Sinko, Elisabeth Watzinger, Chike B. Item, Rolf Ewers, Guenter Lauer, Dritan Turhani, Franz Watzinger
المصدر: Journal of Cranio-Maxillofacial Surgery. 33:301-306
مصطلحات موضوعية: Male, Proline, Cleft Lip, Molecular Sequence Data, Nectins, Glycine, Glutamic Acid, Immunoglobulins, Biology, Gene mutation, medicine.disease_cause, Exon, Sex Factors, Sequence Analysis, Protein, Alveolar Process, medicine, Humans, Child, Gene, Genetics, Mutation, Alanine, Intron, Membrane Proteins, Exons, Introns, Cleft Palate, Otorhinolaryngology, Membrane protein, Child, Preschool, biology.protein, Mutation testing, Receptors, Virus, Female, Surgery, Oral Surgery, Antibody, Cell Adhesion Molecules
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المؤلفون: Olaf Bodamer, Adolf Mühl, Silvia Stöckler-Ipsiroglu, Chike B. Item, C. Willheim
المصدر: Molecular Genetics and Metabolism. 86:328-334
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Guanidinoacetate methyltransferase deficiency, Biology, Nucleic Acid Denaturation, Creatine, medicine.disease_cause, Polymerase Chain Reaction, Biochemistry, law.invention, chemistry.chemical_compound, Endocrinology, law, Genetics, medicine, Molecular Biology, Gene, Chromatography, High Pressure Liquid, Polymerase chain reaction, DNA Primers, Mutation, Base Sequence, Nucleic Acid Heteroduplexes, medicine.disease, Molecular biology, Guanidinoacetate N-methyltransferase, chemistry, Mutation testing, Guanidinoacetate N-Methyltransferase, Temperature gradient gel electrophoresis
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المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 1-2 (2015)مصطلحات موضوعية: lcsh:R5-920, Fabry disease, Calcitonin receptor, business.industry, Enzyme replacement therapy, medicine.disease, Endocrinology, Text mining, lcsh:Biology (General), DNA methylation, Genetics, Cancer research, Medicine, Aberrant DNA Methylation, lcsh:Medicine (General), DNA-methylation, business, lcsh:QH301-705.5, Letter to the Editor, Molecular Biology, Hypoxia inducing factor-1 alpha
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المؤلفون: David C. Kasper, Adele Bohn, Stefan M. Schulz, Kristina A Tendl, Susanne Greber-Platzer, Thomas P. Mechtler, Kurt R. Herkner, Chike B. Item, Thomas F. Metz
المصدر: Epigenetics. 8(12)
مصطلحات موضوعية: Calcitonin, Cancer Research, Calcitonin Gene-Related Peptide, Bacteremia, Infant, Premature, Diseases, Biology, Epigenesis, Genetic, Sepsis, medicine, Humans, Epigenetics, Allele, Protein Precursors, Promoter Regions, Genetic, Molecular Biology, Retrospective Studies, Brief Report, Infant, Newborn, Promoter, Methylation, DNA Methylation, medicine.disease, CpG site, DNA methylation, Immunology, Biomarker (medicine), CpG Islands, Biomarkers, Infant, Premature
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المؤلفون: Roberta Battini, Lisa Celati, Maria Grazia Alessandrì, Fulvia Baldinotti, Chike B. Item, Vincenzo Leuzzi, Giovanni Cioni
المصدر: Analytical Biochemistry. 331:189-191
مصطلحات موضوعية: Chromatography, Guanidinoacetate methyltransferase, Chemistry, Biophysics, Reproducibility of Results, Methyltransferases, Cell Biology, Sensitivity and Specificity, Biochemistry, Hplc assay, Creatinine, Humans, Guanidinoacetate N-Methyltransferase, Lymphocytes, Molecular Biology, Chromatography, High Pressure Liquid, Metabolism, Inborn Errors
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المؤلفون: Zong Hong Zhang, Eva Morava, Silvia Lechner, Maciej Adamowicz, Dirk Lefeber, Julia Vodopiutz, Andreas R. Janecke, Sylvia Stockler, Ivana Mihalek, Wolfgang M. Schmidt, Olaf Bodamer, Ron A. Wevers, Chike B. Item, Jolanta Sykut-Cegielska, Jolanta Wierzba, Ludwig Lehle
المصدر: Pediatrics (Evanston), 130, e1034-9
Pediatrics (Evanston), 130, 4, pp. e1034-9مصطلحات موضوعية: Genetic Markers, Male, medicine.medical_specialty, Microcephaly, Hearing loss, Gene mutation, medicine.disease_cause, Gastroenterology, Mannosyltransferases, Genomic disorders and inherited multi-system disorders [IGMD 3], Epilepsy, Young Adult, Congenital Disorders of Glycosylation, Fatal Outcome, Internal medicine, medicine, Humans, Young adult, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Strabismus, Child, DCN NN - Brain networks and neuronal communication, Mutation, business.industry, Infant, β-1, 4 mannosyltransferase, CDG-Ik short chain, lipid-linked oligosaccharidesseizures, microcephaly, Glycostation disorders [IGMD 4], medicine.disease, Endocrinology, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Congenital disorder of glycosylation
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المؤلفون: Bori Shushan, Thomas P. Mechtler, David C. Kasper, Chike B. Item, Monica Martin, Joseph J. Orsini, Kurt R. Herkner, Berthold Streubel, Joseph L. Herman, Thomas F. Metz, Rene Ratschmann
المصدر: Clinical chemistry. 57(9)
مصطلحات موضوعية: Mucopolysaccharidosis I, Clinical Biochemistry, Pilot Projects, Sensitivity and Specificity, Mass Spectrometry, Neonatal Screening, Clinical Protocols, medicine, Humans, Sample preparation, Substrate reduction therapy, Chromatography, High Pressure Liquid, Newborn screening, Chromatography, Gaucher Disease, Chemistry, Glycogen Storage Disease Type II, Biochemistry (medical), Infant, Newborn, Substrate (chemistry), Niemann-Pick Disease, Type B, Niemann-Pick Disease, Type A, medicine.disease, Leukodystrophy, Globoid Cell, Transplantation, Lysosomal Storage Diseases, Krabbe disease, Fabry Disease, Niemann–Pick disease
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المؤلفون: Dietmar Thurnher, Sven Schneider, Gregor Heiduschka, Robert Loewe, Daniel Halbauer, Chike B. Item, Claudia Lill, Markus Brunner, Roland Houben
المصدر: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery. 268(11)
مصطلحات موضوعية: Male, Skin Neoplasms, Blotting, Western, Biology, Neuroendocrine tumors, medicine.disease_cause, Real-Time Polymerase Chain Reaction, Exon, Cell Line, Tumor, medicine, Missense mutation, Humans, Aged, Retrospective Studies, Aged, 80 and over, Mutation, Merkel cell carcinoma, food and beverages, Cancer, General Medicine, DNA, Neoplasm, Middle Aged, medicine.disease, Genes, p53, Prognosis, Immunohistochemistry, Reverse transcriptase, Carcinoma, Merkel Cell, Otorhinolaryngology, Cell culture, Head and Neck Neoplasms, Cancer research, Female, Follow-Up Studies
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المؤلفون: Joaquim Bosch, Adolf Mühl, Chike B. Item, Ana Duat, Jaume Campistol, Mercè Pineda, María L. Couce, Olaf Bodamer, Furhan Iqbal, Anil Jalan, Alberto Puche, Maria Antonia Vilaseca, Maria P. Delgado
المصدر: Molecular genetics and metabolism. 100(1)
مصطلحات موضوعية: Protein Denaturation, Endocrinology, Diabetes and Metabolism, Biology, medicine.disease_cause, Biochemistry, Sensitivity and Specificity, Frameshift mutation, chemistry.chemical_compound, Exon, Endocrinology, Biotin, Genetics, medicine, Humans, Molecular Biology, Chromatography, High Pressure Liquid, Mutation, Biotinidase, Biotinidase deficiency, Infant, Newborn, Infant, Amplicon, medicine.disease, Molecular biology, chemistry, Child, Preschool, Heteroduplex