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

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

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c75f83d44728b4a506de2f7fe05b643
https://pubmed.ncbi.nlm.nih.gov/9506660

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

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