المؤلفون: E. Boltshauser, A. M. Kaindl, O. Ipsiroglu, I. Krägeloh-Mann, K. Rostásy, M. Schöning, S. Stöckler-Ipsiroglu, J. Krauß, T. Schweitzer

المصدر: Pädiatrie ISBN: 9783662572948

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2cd82f11d8ac1341614d2fe1480b5a95
https://doi.org/10.1007/978-3-662-57295-5_8

المؤلفون: Esther M. Maier, Andreas Holzinger, Adelbert A. Roscher, S Stöckler-Ipsiroglu, Attila Braun

المصدر: Clinical Genetics. 53:482-487

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, Nonsense mutation, Biology, ATP Binding Cassette Transporter, Subfamily D, Member 1, Exon, Genetics, medicine, Humans, Adrenoleukodystrophy, Gene, Cells, Cultured, Genetics (clinical), Messenger RNA, Membrane Proteins, nutritional and metabolic diseases, Translation (biology), Exons, Fibroblasts, medicine.disease, Cyclic nucleotide-binding domain, Mutation, Mutation (genetic algorithm), ATP-Binding Cassette Transporters

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::552430e925f07155f155ca4db43f5e79
https://doi.org/10.1111/j.1399-0004.1998.tb02600.x

المؤلفون: W Schima, E. Holme, W. D. Huber, S Stöckler Ipsiroglu, D. Möslinger, J. Crone, Olaf Bodamer

المصدر: Acta Paediatrica. 92:625-628

مصطلحات موضوعية: medicine.medical_specialty, Pathology, Cirrhosis, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, Nodule (medicine), Phenylalanine, General Medicine, medicine.disease, Gastroenterology, Tyrosinemia, Internal medicine, Hepatocellular carcinoma, Pediatrics, Perinatology and Child Health, Liver nodules, Hereditary tyrosinaemia type I, Medicine, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1b047a57e0b94282c68d71e1566f5494
https://doi.org/10.1111/j.1651-2227.2003.tb02518.x

المؤلفون: M. Holub, O. Bodamer, C. Item, A. Mühl, A. Pollak, S. Stöckler-ipsiroglu

المصدر: Acta Paediatrica. 94:48-52

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ea5bbd918b2e4cdb6c9039f560dba6c5
https://doi.org/10.1080/08035250410022486

المؤلفون: Olaf Bodamer, Jan P. Kraus, M. Orendáč, Sally P. Stabler, Viktor Kožich, J. Kvasnička, Jiří Zeman, Robert H. Allen, S. Stöckler-Ipsiroglu

المصدر: Journal of Inherited Metabolic Disease. 26:761-773

مصطلحات موضوعية: Adult, Male, S-Adenosylmethionine, medicine.medical_specialty, Adolescent, Homocystinuria, Creatine, chemistry.chemical_compound, Betaine, Internal medicine, Genetics, medicine, Humans, Child, Genetics (clinical), Methionine, biology, business.industry, Glutathione, medicine.disease, Pyridoxine, S-Adenosylhomocysteine, Cystathionine beta synthase, Endocrinology, chemistry, Child, Preschool, biology.protein, Female, business, medicine.drug, Cysteine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65dda3a6b4efe236af760f0512731a30
https://doi.org/10.1023/b:boli.0000009963.88420.c2

المؤلفون: I. Eichler, S. Stöckler-Ipsiroglu

المصدر: Monatsschrift Kinderheilkunde. 149:1311-1318

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Medical screening, Recien nacido, Pediatrics, Perinatology and Child Health, medicine, Surgery, Biomedical equipment, Mass campaign, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a4bbab365e09d07574e37fb58b472567
https://doi.org/10.1007/s001120170017

المؤلفون: B. Plecko, S. Stöckler-Ipsiroglu

المصدر: Monatsschrift Kinderheilkunde. 149:137-146

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Glutaric aciduria, Macrocephaly, Respiratory chain, Disease, medicine.disease, Asymptomatic, Canavan disease, Central nervous system disease, Endocrinology, Internal medicine, Pediatrics, Perinatology and Child Health, Etiology, Medicine, Surgery, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8960e587496e9e600080113e4936190d
https://doi.org/10.1007/s001120050739

المؤلفون: Rob C.A. Sengers, Jan Loeffen, Jan A.M. Smeitink, Rob J. E. M. Smeets, Hanna Mandel, Orly Elpeleg, van den Heuvel L, S Stöckler-Ipsiroglu, Frans J.M. Trijbels

المصدر: Annals of Neurology. 49:195-201

مصطلحات موضوعية: Genetics, Mitochondrial DNA, Mutation, Nuclear gene, NDUFS2, Nonsense mutation, Biology, medicine.disease_cause, DNA sequencing, Nuclear DNA, Neurology, medicine, Neurology (clinical), Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0b6bad2c89c67d2a1c433ebfc0b6e8f
https://doi.org/10.1002/1531-8249(20010201)49:2<195::aid-ana39>3.0.co;2-m

المؤلفون: S. Mercimek Mahmutoglu, S. Stoeckler Ipsiroglu, A. Adami, R. Appleton, H. C. Araujo, M. Duran, R. Ensenauer, E. Fernandez Alvarez, P. Garcia, C. Grolik, C. B. Item, I. Marquardt, A. Muhl, R. A. Saelke Kellermann, G. S. Salomons, A. Schulze, R. Surtees, M. S. Van Der Knaap, R. Vasconcelos, N. M. Verhoeven, L. Vilarinho, E. Wilichowski, C. Jakobs, LEUZZI, Vincenzo

المساهمون: S., Mercimek Mahmutoglu, S., Stoeckler Ipsiroglu, A., Adami, R., Appleton, H. C., Araujo, M., Duran, R., Ensenauer, E., Fernandez Alvarez, P., Garcia, C., Grolik, C. B., Item, Leuzzi, Vincenzo, I., Marquardt, A., Muhl, R. A., Saelke Kellermann, G. S., Salomon, A., Schulze, R., Surtee, M. S., Van Der Knaap, R., Vasconcelo, N. M., Verhoeven, L., Vilarinho, E., Wilichowski, C., Jakobs

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/16855203; info:eu-repo/semantics/altIdentifier/wos/WOS:000239603500022; volume:67; issue:3; firstpage:480; lastpage:484; journal:NEUROLOGY; http://hdl.handle.net/11573/120942; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33747075772; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000239603500022&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a; http://www.scopus.com/inward/record.url?eid=2-s2.0-33747075772&partnerID=65&md5=575341f49943e83ca5478c15c1415f10

الاتاحة: http://hdl.handle.net/11573/120942
https://doi.org/10.1212/01.wnl.0000234852.43688.bf
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000239603500022&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a
http://www.scopus.com/inward/record.url?eid=2-s2.0-33747075772&partnerID=65&md5=575341f49943e83ca5478c15c1415f10

المؤلفون: O. Ipsiroglu, I. Krägeloh-Mann, M. Schöning, S. Stöckler-Ipsiroglu

المصدر: Pädiatrie ISBN: 9783642342684

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7fb4b8fd843e96afd5c41f8be24c6ba4
https://doi.org/10.1007/978-3-642-34269-1_10

المؤلفون: D. Karall, B. Meisinger, G. Grissenauer, S. Scholl-Bürgi, P. Heinz-Erian, Florian Lagler, J. O. Sass, S. Grünert, E.-M. Nussbaumer, K. O. Schwab, E. Mönch, A. Hofer, E. Haberlandt, V. Oppl, W. Sperl, U. Spiekerkötter, S. Baumgartner Sigl, S. Stöckler-Ipsiroglu

المصدر: Klinische Ernährungsmedizin ISBN: 9783211888995

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::32d89eb55ec29e126e4a3ea848412574
https://doi.org/10.1007/978-3-211-88900-8_23

المؤلفون: O. S. Ipsiroglu, I. Krägeloh-Mann, M. Schöning, S. Stöckler-Ipsiroglu

المصدر: Pädiatrie ISBN: 9783540694793

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::67d5f4451574f0311e2a3ac15a70911c
https://doi.org/10.1007/978-3-540-69480-9_11

المؤلفون: O.S. Ipsiroglu, I. Krägeloh-Mann, M. Schöning, S. Stöckler-Ipsiroglu

المصدر: Pädiatrie ISBN: 3540207910

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4ae24e6674b6e9dcd824464f4733b1be
https://doi.org/10.1007/3-540-26527-9_11

المؤلفون: S. Stöckler-Ipsiroglu, Olaf Bodamer, Staci A. Gruber

المصدر: Journal of inherited metabolic disease. 27(6)

مصطلحات موضوعية: Male, medicine.medical_specialty, Oxidoreductases Acting on CH-CH Group Donors, Adolescent, DNA Mutational Analysis, Creatine, Phosphocreatine, Choline, chemistry.chemical_compound, Myelin, In vivo, Internal medicine, Genetics, medicine, Humans, Neurotransmitter metabolism, Neurotransmitter, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), Brain Chemistry, Aspartic Acid, Glutaryl-CoA Dehydrogenase, Nuclear magnetic resonance spectroscopy, DNA, Magnetic Resonance Imaging, Endocrinology, medicine.anatomical_structure, chemistry, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8894556b5d538d53b78b6e7f46c0d334
https://pubmed.ncbi.nlm.nih.gov/15505395

المؤلفون: Olaf Bodamer, T Voigtländer, S. Stöckler-Ipsiroglu, Eduard Paschke, Rene Ratschmann

المصدر: Lancet (London, England). 363(9422)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Respiratory tract infections, Fever, Acroparaesthesia, business.industry, MEDLINE, General Medicine, Toes, medicine.disease, Fabry disease, Pedigree, Fingers, Recurrence, medicine, Fabry Disease, Humans, Female, Paresthesia, Intensive care medicine, business, Child, Respiratory Tract Infections

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aef907dd0c2d9064ca64c132fb85c733
https://pubmed.ncbi.nlm.nih.gov/15158631

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::13dc580d9cfbaeb9f1d125707974f5e0
https://pubmed.ncbi.nlm.nih.gov/15108290

المؤلفون: U Tacke, Jürgen Hennig, Regina Ensenauer, S Stöckler-Ipsiroglu, Thorsten Thiel, Karl Otfried Schwab, Willy Lehnert, Andreas Schulze

المصدر: Molecular genetics and metabolism. 82(3)

مصطلحات موضوعية: Male, Ornithine, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Phosphocreatine, Turkey, Endocrinology, Diabetes and Metabolism, Metabolite, Glycine, Guanidinoacetate methyltransferase deficiency, Creatine, Arginine, Biochemistry, Gas Chromatography-Mass Spectrometry, chemistry.chemical_compound, Endocrinology, Internal medicine, Genetics, medicine, Humans, Child, Muscle, Skeletal, Molecular Biology, biology, Skeletal muscle, Brain, Human brain, Methyltransferases, medicine.disease, Guanidinoacetate N-methyltransferase, medicine.anatomical_structure, chemistry, Creatinine, biology.protein, Creatine kinase, Guanidinoacetate N-Methyltransferase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d99253cd55d1898b3e41abccf856bb6
https://pubmed.ncbi.nlm.nih.gov/15234333

المؤلفون: J, Crone, D, Möslinger, O A, Bodamer, W, Schima, W D, Huber, E, Holme, S, Stöckler Ipsiroglu

المصدر: Acta paediatrica (Oslo, Norway : 1992). 92(5)

مصطلحات موضوعية: Liver Cirrhosis, Male, Cyclohexanones, Tyrosinemias, Nitrobenzoates, Remission Induction, Infant, Newborn, Humans, Infant, Enzyme Inhibitors, Liver Regeneration

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::de124640ac585b7d6aa17e7992dab6eb
https://pubmed.ncbi.nlm.nih.gov/12839296

المؤلفون: J, Loeffen, O, Elpeleg, J, Smeitink, R, Smeets, S, Stöckler-Ipsiroglu, H, Mandel, R, Sengers, F, Trijbels, L, van den Heuvel

المصدر: Annals of neurology. 49(2)

مصطلحات موضوعية: Electron Transport Complex I, Phenotype, Mitochondrial Encephalomyopathies, Molecular Sequence Data, Mutation, Infant, Newborn, Humans, Infant, NADH, NADPH Oxidoreductases, Amino Acid Sequence, Cardiomyopathies, DNA, Mitochondrial, Polymorphism, Restriction Fragment Length

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a5311382b560cb64a3a5275b12957e22
https://pubmed.ncbi.nlm.nih.gov/11220739

المؤلفون: S. Stöckler-Ipsiroglu

المصدر: Screening auf angeborene endokrine und metabole Störungen ISBN: 9783709172605

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0e2c6b2eb27011a906be30e92c340506
https://doi.org/10.1007/978-3-7091-6252-1_14