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المؤلفون: U. Langenbeck, Joerg Schmidtke, E. Nyoungui, A. Dierking, M. Stuhrmann, Kathrin Rommel
المصدر: Medizinische Genetik. 22:213-220
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Genetics, medicine, business, Genetics (clinical)
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2
المؤلفون: Johannes Zschocke, U. Langenbeck, Peter Burgard, Martin Lindner, Udo Wendel
المصدر: Journal of Inherited Metabolic Disease. 32:506-513
مصطلحات موضوعية: medicine.medical_specialty, Genotype, Phenylalanine, DNA Mutational Analysis, Blood phenylalanine, Biology, Models, Biological, Gene Frequency, Phenylketonurias, Internal medicine, Genetics, medicine, Humans, In patient, Diagnostic Techniques and Procedures, Genetics (clinical), Kinetic model, Infant, Phenylalanine Hydroxylase, Proteins, Metabolism, Phenotype, Intermediate type, Kinetics, Endocrinology, Protein loading, Half-Life
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3
المؤلفون: A. Schmidt, Albert Schinzel, H. Zankl, A. Wirtz, H. Veenema, R.-D. Wegner, Merve Zankl, E. Kab, Ursula Froster-Iskenius, Eberhard Schwinger, U. Langenbeck, A. Rodewald, Peter Steinbach
المساهمون: University of Zurich, Rodewald, A
المصدر: Clinical Genetics. 30:1-13
مصطلحات موضوعية: Adult, Male, 2716 Genetics (clinical), X Chromosome, Adolescent, 10039 Institute of Medical Genetics, Genetic Linkage, Dermatoglyphic patterns, 610 Medicine & health, Papillary ridges, Biology, 1311 Genetics, Intellectual Disability, Genetics, medicine, Humans, Dermatoglyphics, Child, Sex Chromosome Aberrations, Genetics (clinical), Genetic Carrier Screening, Chromosomal fragile site, Anatomy, medicine.disease, body regions, Fragile X syndrome, Male patient, Child, Preschool, Fragile X Syndrome, Clinical diagnosis, 570 Life sciences, biology, Female
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4
المؤلفون: U. Langenbeck
المصدر: Journal of Inherited Metabolic Disease. 31:67-72
مصطلحات موضوعية: medicine.medical_specialty, Time Factors, Phenylalanine hydroxylase, Normal diet, Phenylalanine, Biopterin, chemistry.chemical_compound, Hyperphenylalaninemia, Phenylketonurias, Internal medicine, Genetics, medicine, Humans, Diagnostic Techniques and Procedures, Genetics (clinical), chemistry.chemical_classification, biology, Maple syrup urine disease, Infant, Newborn, Phenylalanine Hydroxylase, Tetrahydrobiopterin, Models, Theoretical, medicine.disease, Endocrinology, Enzyme, chemistry, biology.protein, Half-Life, medicine.drug
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5
المؤلفون: S. Halvorsen, U. Langenbeck, Ragnhild Kiil, Brita Merton, D. Brackertz, Torgeir Rokkones, Walter Keller, H. W. Goedde
المصدر: Acta Paediatrica. 59:83-87
مصطلحات موضوعية: Male, Periodicity, Adolescent, Biochemical Phenomena, Biology, Intermittent branched-chain ketoaciduria, Biochemistry, Maple Syrup Urine Disease, Seizures, Valine, Genetic variation, Leukocytes, medicine, Humans, Amino Acids, Child, Genetics, Carbon Isotopes, Chromatography, Norway, Genetic heterogeneity, Maple syrup urine disease, Normal intelligence, Infant, Electroencephalography, General Medicine, medicine.disease, Keto Acids, Pedigree, Child, Preschool, Phenobarbital, Pediatrics, Perinatology and Child Health, Female, Isoleucine, Leucine
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6
المؤلفون: W. Fekl, S.A. Adibi, P. Schauder, U. Langenbeck
مصطلحات موضوعية: business.industry, Philosophy, Artificial intelligence, Title page, business, Classics
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::40eb7fc59fe5c04190351bb3cf7a8aa1
https://doi.org/10.1159/000410881 -
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8
المؤلفون: Peter Burgard, Johannes Zschocke, E. Mönch, Hyperphenylalaninaemia (Hpa), Udo Wendel, U. Langenbeck
المصدر: JIMD Reports ISBN: 9783662532775
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, business.industry, Internal medicine, medicine, Response type, Metabolic phenotype, Phenylalanine, business, Body weight, Article, Protein loading
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8f555f74281fab0c40c6c1621b48cf1
https://doi.org/10.1007/8904_2015_508 -
9
المؤلفون: N. Flaschker, Udo Wendel, U. Langenbeck, Peter Schadewaldt, Eva Simon
المصدر: Journal of Inherited Metabolic Disease. 29:716-724
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Adolescent, Biology, Asymptomatic, Genetic determinism, Maple Syrup Urine Disease, Genotype, Genetics, medicine, Humans, Child, Genetics (clinical), Retrospective Studies, Skin, Maple syrup urine disease, Brain dysfunction, nutritional and metabolic diseases, Social outcome, Fibroblasts, medicine.disease, Human genetics, Diet, Phenotype, Severe phenotype, Female, medicine.symptom
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10
المؤلفون: Angelika May, D. Wagner, U. Langenbeck, A. Weber
المصدر: HNO. 48:650-654
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Prostaglandin-Endoperoxide Synthase, Otorhinolaryngology, business.industry, Head and neck surgery, Medicine, business