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1
المؤلفون: Yagmur Unsal, Murat Yurdakok, Sule Yigit, Hasan Tolga Celik, Ali Dursun, Hatice Serap Sivri, Aysegul Tokatli, Turgay Coskun
المصدر: Journal of pediatric endocrinologymetabolism : JPEMReferences. 35(11)
مصطلحات موضوعية: Endocrinology, Propionic Acidemia, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Infant, Newborn, Infant, Humans, Hyperammonemia, Acidosis, Amino Acid Metabolism, Inborn Errors, Referral and Consultation, Retrospective Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8788b534d16185352064d7a40f67e7b
https://pubmed.ncbi.nlm.nih.gov/36203204 -
2
المؤلفون: Hong-Zhi, Gao, Keiko, Kobayashi, Ayako, Tabata, Hideaki, Tsuge, Mikio, Iijima, Tomotsugu, Yasuda, H Serap, Kalkanoglu, Ali, Dursun, Aysegul, Tokatli, Turgay, Coskun, Friedrich K, Trefz, Daniela, Skladal, Hanna, Mandel, Joerg, Seidel, Soichi, Kodama, Seiko, Shirane, Takafumi, Ichida, Shigeru, Makino, Makoto, Yoshino, Jong-Hon, Kang, Masashi, Mizuguchi, Bruce A, Barshop, Shohei, Fuchinoue, Sara, Seneca, Susan, Zeesman, Ina, Knerr, Margarita, Rodés, Pornswan, Wasant, Ichiro, Yoshida, Linda, De Meirleir, Md, Abdul Jalil, Laila, Begum, Masahisa, Horiuchi, Nobuhiko, Katunuma, Shiro, Nakagawa, Takeyori, Saheki
المساهمون: Department of Embryology and Genetics, Pediatrics
مصطلحات موضوعية: Adult, Male, Citrullinemia, Adolescent, Child, preschool, Genotype, DNA Mutational Analysis, Molecular Sequence Data, Infant, Newborn, Mutation, Missense, Chromosome Mapping, Infant, Argininosuccinate Synthase, Middle Aged, Phenotype, Gene Frequency, Codon, Nonsense, Humans, Female, Amino Acid Sequence, mutation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::db2902a15cc66e4aff867d91d23cca0e
https://biblio.vub.ac.be/vubir/identification-of-16-novel-mutations-in-the-argininosuccinate-synthetase-gene-and-genotypephenotype-correlation-in-38-classical-citrullinemia-patients(42724c61-41cf-4fb8-8ba0-c3d70cfac97a).html -
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المؤلفون: Ira T. Lott, Robert J. Pomponio, Imran Ozalp, E.Regula Baumgartner, Turgay Coskun, Jeanne Hymes, Aysegul Tokatli, Barry Wolf, Karen J. Norrgard, Terttu Suormala, Vincent Ramaekers
المصدر: The Journal of pediatrics. 132(2)
مصطلحات موضوعية: Male, Weakness, Pediatrics, medicine.medical_specialty, Visual acuity, Adolescent, Neurological disorder, Amidohydrolases, medicine, Humans, Age of Onset, Child, business.industry, Biotinidase, Biotinidase deficiency, Delayed onset, medicine.disease, eye diseases, Surgery, El Niño, Pediatrics, Perinatology and Child Health, Mutation, Female, medicine.symptom, Age of onset, business, Acyltransferases, Metabolism, Inborn Errors
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4دورية أكاديمية
المؤلفون: Hong‐Zhi Gao, Keiko Kobayashi, Ayako Tabata, Hideaki Tsuge, Mikio Iijima, Tomotsugu Yasuda, H. Serap Kalkanoglu, Ali Dursun, Aysegul Tokatli, Turgay Coskun, Friedrich K. Trefz, Daniela Skladal, Hanna Mandel, Joerg Seidel, Soichi Kodama, Seiko Shirane, Takafumi Ichida, Shigeru Makino, Makoto Yoshino, Jong‐Hon Kang
المصدر: Human Mutation; Jul2003, Vol. 22 Issue 1, p24-34, 11p
مصطلحات موضوعية: GENETIC disorders, POLYCYSTIC kidney disease, GENETIC mutation, CHEMICAL synthesis, ENZYMES, PHENOTYPES, CHROMOSOMES, UREA
People: SHIMIZU, Nobuyoshi
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5دورية أكاديمية
المؤلفون: Klaus Gempel, Haluk Topaloglu, Beril Talim, Peter Schneiderat, Benedikt G. H. Schoser, Volkmar H. Hans, Beatrix Pálmafy, Gulsev Kale, Aysegul Tokatli, Catarina Quinzii, Michio Hirano, Ali Naini, Salvatore DiMauro, Holger Prokisch, Hanns Lochmüller, Rita Horvath
المصدر: Brain: A Journal of Neurology; Aug2007, Vol. 130 Issue 8, p2037-2037, 1p
مصطلحات موضوعية: MUSCLE diseases, COENZYMES, GENETIC mutation, FLAVOPROTEINS