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1
المؤلفون: H Korall, FK Trefz, Bernd Schwahn, Ute Spiekerkötter, Brage S. Andresen, Udo Wendel
المصدر: Acta Paediatrica. 89:492-495
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Biochemistry, business.industry, Carnitine/Acylcarnitine, Internal medicine, Pediatrics, Perinatology and Child Health, Medicine, Very long chain, General Medicine, business, Acyl-coenzyme A Dehydrogenase
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2
المؤلفون: AP Pöge, F. K. Trefz, F. Autschbach, Ertan Mayatepek, H. Korall
المصدر: Acta Paediatrica. 86:1144-1147
مصطلحات موضوعية: Male, Oxidoreductases Acting on CH-CH Group Donors, medicine.medical_specialty, Pathology, Nephrotic Syndrome, Choreoathetosis, Disease, Glutaric acid, Kidney, urologic and male genital diseases, chemistry.chemical_compound, Fatal Outcome, Internal medicine, medicine, Humans, Dystonia, Glutaryl-CoA Dehydrogenase, business.industry, Glutaric aciduria, Infant, Newborn, Glomerulonephritis, General Medicine, medicine.disease, Endocrinology, chemistry, Pediatrics, Perinatology and Child Health, medicine.symptom, Oxidoreductases, business, Nephrotic syndrome, Metabolism, Inborn Errors, Kidney disease
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3
المصدر: Monatsschrift Kinderheilkunde. 145:238-241
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Genetic inheritance, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Surgery, business
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4
المصدر: Klinische Neurophysiologie. 44
مصطلحات موضوعية: Physiology (medical), Neurology (clinical)
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5
المؤلفون: H Korall
المصدر: Neuropediatrics. 39
مصطلحات موضوعية: Chromatography, Hplc ms ms, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), General Medicine, business, Tandem mass spectrometry, medicine.disease, Pyridoxine-dependent epilepsy
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6
المؤلفون: H Korall
المصدر: Neuropediatrics. 39
مصطلحات موضوعية: business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), General Medicine, Metabolism, Bioinformatics, business
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7
المؤلفون: D. Lopes Videira, H. Korall, Friedrich K. Trefz, M. Henschen, Michael Hofbeck, C. Bender, E. Komini, D. Scheible, Johannes Häberle
المصدر: Zeitschrift für Geburtshilfe und Neonatologie. 212
مصطلحات موضوعية: Maternity and Midwifery, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology
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8
المؤلفون: H. Korall, Olaf Bodamer, Chike B. Item, Julia Vodopiutz, Martin Häusler
المصدر: Journal of child neurology. 22(6)
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Guanidinoacetate methyltransferase deficiency, Creatine, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Severe speech delay, 030225 pediatrics, Internal medicine, medicine, Humans, Language Development Disorders, Global developmental delay, Amino Acid Metabolism, Inborn Errors, Extrapyramidal signs, Muscular hypotonia, business.industry, medicine.disease, Endocrinology, Creatine synthesis, chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, Speech delay, Guanidinoacetate N-Methyltransferase, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
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9
المؤلفون: H. Korall
المصدر: Zeitschrift für Geburtshilfe und Neonatologie. 211
مصطلحات موضوعية: Maternity and Midwifery, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology
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10
المؤلفون: K. Lichte, C. Bender, F. K. Trefz, M. Henschen, H. Korall, E. Komini
المصدر: Zeitschrift für Geburtshilfe und Neonatologie. 211
مصطلحات موضوعية: Maternity and Midwifery, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology
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11
المؤلفون: H Korall
المصدر: Neuropediatrics. 37
مصطلحات موضوعية: Chromatography, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), General Medicine, Gas chromatography–mass spectrometry, business, Tandem mass spectrometry
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12
المؤلفون: H. Korall
المصدر: Neuropediatrics. 210
مصطلحات موضوعية: Maternity and Midwifery, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology, Neurology (clinical), General Medicine
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13
المؤلفون: H. Korall
المصدر: Neuropediatrics. 36
مصطلحات موضوعية: business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), General Medicine, business, Neuroscience
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14
المؤلفون: C B, Item, S, Mercimek-Mahmutoglu, R, Battini, C, Edlinger-Horvat, C, Stromberger, O, Bodamer, A, Mühl, M A, Vilaseca, H, Korall, S, Stöckler-Ipsiroglu
المصدر: Human mutation. 23(5)
مصطلحات موضوعية: Adult, Male, Adolescent, DNA Mutational Analysis, Exons, Methyltransferases, Introns, Child, Preschool, Mutation, Humans, Female, Guanidinoacetate N-Methyltransferase, Child, Deficiency Diseases
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15
المؤلفون: A Grolik, R. Ensenauer, Chike B. Item, E Fernandez, Carmen Stromberger, Saadet Mercimek-Mahmutoglu, R Sälke-Kellermann, Sylvia Stockler-Ipsiroglu, M.S. van der Knaap, A. Adami, C. Edlinger-Horvat, R. E. Appleton, Folker Hanefeld, T Polster, H. Korall
المصدر: Neuropediatrics. 35
مصطلحات موضوعية: Guanidinoacetate N-methyltransferase, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), General Medicine, business, Bioinformatics
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16
المؤلفون: U, Spiekerkötter, B, Schwahn, H, Korall, F K, Trefz, B S, Andresen, U, Wendel
المصدر: Acta paediatrica (Oslo, Norway : 1992). 89(4)
مصطلحات موضوعية: Fatty Acid Desaturases, Male, Carnitine, Humans, Infant, Sequence Analysis, DNA, Lipid Metabolism, Inborn Errors, Monitoring, Physiologic
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17
المؤلفون: Carmen Stromberger, Sylvia Stockler-Ipsiroglu, Roberta Battini, C Item, Maria Antonia Vilaseca, H. Korall, Saadet Mercimek-Mahmutoglu, C. Edlinger-Horvat, Olaf Bodamer, Adolf Mühl
المصدر: Human Mutation. 23:524-524
مصطلحات موضوعية: Guanidinoacetate N-methyltransferase, Genetics, Exon, Lymphoblast, Intron, Missense mutation, Allele, Creatine deficiency, Biology, Molecular biology, Genetics (clinical), Frameshift mutation
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18
المؤلفون: H, Korall, H M, Schmidt
المصدر: Gegenbaurs morphologisches Jahrbuch. 135(5)
مصطلحات موضوعية: Computer Graphics, Image Processing, Computer-Assisted, Humans, Acetabulum, Software
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19
المؤلفون: S. Streck, K. F. Trefz, K. Kauf, F. Zintl, Christina Bak Pedersen, M. Roskos, Christine Vianey-Saban, H. Korall, Adrian C. Sewell, Niels Gregersen, K. Bellstedt, Thomas Deufel, Jerry Vockley, J. Seidel, Willy Lehnert
المصدر: BASE-Bielefeld Academic Search Engine
Seidel, J, Streck, S, Bellstedt, K, Vianey-Saban, C, Pedersen, C B, Vockley, J, Korall, H, Roskos, M, Deufel, T, Trefz, K F, Sewell, A C, Kauf, E, Zintl, F, Lehnert, W & Gregersen, N 2003, ' Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene ', J. Inherit. Metab. Dis, vol. 26, no. 1, pp. 37-42 .مصطلحات موضوعية: Butyryl-CoA Dehydrogenase, Male, medicine.medical_specialty, DNA, Complementary, Vomiting, Biology, Compound heterozygosity, medicine.disease_cause, chemistry.chemical_compound, Recurrence, Internal medicine, Genetics, medicine, Humans, Ethylmalonic aciduria, Muscle, Skeletal, Gene, Genetics (clinical), Alleles, Cells, Cultured, Creatinine, Mutation, Infant, Newborn, Acyl CoA dehydrogenase, Fibroblasts, Malonates, Endocrinology, Phenotype, chemistry, biology.protein, medicine.symptom, Scad, Oxidation-Reduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c4173fb8ce2182973b5f87aae7b34f8
http://pure.au.dk/portal/da/publications/recurrent-vomiting-and-ethylmalonic-aciduria-associated-with-rare-mutations-of-the-shortchain-acylcoa-dehydrogenase-gene(97288e30-983f-11da-bee9-02004c4f4f50).html