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J-GLOBAL ID：201202208850181281   整理番号：12A1692851

S-アデノシルホモシステインヒドロラーゼ欠損症の臨床像はホスホマンノムターゼ2欠損症に類似する

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency

著者 (17件)： HONZIK Tomas (Inst. of Inherited Metabolic Disorders, First Fac. of Medicine, Charles Univ. in Prague and General Univ. Hospital ...) ,  HONZIK Tomas (Dep. of Pediatrics, First Fac. of Medicine, Charles Univ. in Prague and General Univ. Hospital in Prague, CZE) ,  MAGNER Martin (Dep. of Pediatrics, First Fac. of Medicine, Charles Univ. in Prague and General Univ. Hospital in Prague, CZE) ,  KRIJT Jakub (Inst. of Inherited Metabolic Disorders, First Fac. of Medicine, Charles Univ. in Prague and General Univ. Hospital ...) ,  SOKOLOVA Jitka (Inst. of Inherited Metabolic Disorders, First Fac. of Medicine, Charles Univ. in Prague and General Univ. Hospital ...) ,  VUGREK Oliver (Dep. of Molecular Medicine, Inst. “Ruder Boskovic”, Zagreb, HRV) ,  BELUZIC Robert (Dep. of Molecular Medicine, Inst. “Ruder Boskovic”, Zagreb, HRV) ,  BARIC Ivo (Dep. of Pediatrics, Univ. Hospital Center Zagreb and School of Medicine, Zagreb, HRV) ,  HANSIKOVA Hana (Dep. of Pediatrics, First Fac. of Medicine, Charles Univ. in Prague and General Univ. Hospital in Prague, CZE) ,  ELLEDER Milan (Inst. of Inherited Metabolic Disorders, First Fac. of Medicine, Charles Univ. in Prague and General Univ. Hospital ...) ,  VESELA Katerina (Dep. of Pediatrics, First Fac. of Medicine, Charles Univ. in Prague and General Univ. Hospital in Prague, CZE) ,  BAUEROVA Lenka (Inst. of Pathology, First Fac. of Medicine, Charles Univ. in Prague and General Univ. Hospital in Prague, CZE) ,  ONDRUSKOVA Nina (Dep. of Pediatrics, First Fac. of Medicine, Charles Univ. in Prague and General Univ. Hospital in Prague, CZE) ,  JESINA Pavel (Inst. of Inherited Metabolic Disorders, First Fac. of Medicine, Charles Univ. in Prague and General Univ. Hospital ...) ,  ZEMAN Jiri (Inst. of Inherited Metabolic Disorders, First Fac. of Medicine, Charles Univ. in Prague and General Univ. Hospital ...) ,  ZEMAN Jiri (Dep. of Pediatrics, First Fac. of Medicine, Charles Univ. in Prague and General Univ. Hospital in Prague, CZE) ,  KOZICH Viktor (Inst. of Inherited Metabolic Disorders, First Fac. of Medicine, Charles Univ. in Prague and General Univ. Hospital ...)
資料名： Molecular Genetics and Metabolism  (Molecular Genetics and Metabolism)
巻： 107  号： 3  ページ： 611-613  発行年： 2012年11月 
JST資料番号： E0820A  ISSN： 1096-7192  資料種別： 逐次刊行物 (A)
発行国： オランダ (NLD)  言語： 英語 (EN)

タイトルに関連する用語 (5件)： S-アデノシルホモシステインヒドロラーゼ ,  欠損 ,  臨床 ,  ホスホマンノムターゼ ,  類似